Arq. Neuro-Psiquiatr. 2024;82(Suppl 2):S53-S176.

ID: 533

Area: Neuroinfections

Presentation method: Eletronic Poster

Schistosomiasis myeloradiculopathy: case report in the state of Sergipe

Rodrigo Santos de Araujo<fnref n="1" />*, Milena Melo de Castro<fnref n="1" />,
Daniel Oliveira Santos<fnref n="1" />, Francis Sharaym Melo de Carvalho<fnref n="1" />,
Suellen Rejane Lima Sa<fnref n="1" />, Gabriel Ribeiro Andrade Neto<fnref n="1" />,
Rene Vasconcelos Silva<fnref n="1" />

Abstract

Case Presentation: AGRB, male, 9 years old, 52kg, previously healthy, born and raised in Pirambu, Bebedouro village, Sergipe. Adtted on 10/09/2022 to the pediatrics sector of the Sergipe Emergency hospital, reporting headache, fever and vomiting for 7 days, with subsequent evolution with pain in the posterior region of the right thigh, in addition to low back pain. Physical examination showed normal breathing and heart rate. Decreased strength in lower limbs, being worse on the left side. No patellar reflex and left Achilles. Normal right reflexes. Strength preserved in upper limbs. Presence of Babinski's sign on the right. No signs of trunk involvement. During the medical evaluation, a magnetic resonance imaging (MRI) of the dorsal column was requested, with findings of multiple foci with heterogeneous gadolinium uptake affecting the central portion and anterior funiculi of the spinal cord from D8 to the medullary cone, with T2 hypersignal in the spinal cord parenchyma adjacent and extending to the D4 level, with mass effect, with partial erasure of the CSF column in correspondence. The vertebral bodies, joints and musculature had normal contours and structures. It was concluded, then, that the examination showed an inflammatory-type lesion with a focus on schistosomiasis with involvement of the spinal cord associated with epidemiological data and clinical suspicion. Collected CSF that showed total proteins in the amount of 128.6 mg/dL, 597 cells/mm3 (PNM: 14% and LMN: 86%) with positive IFI for schistosomiasis. Treatment with ivermectin 6 mg was started, administering 2 pills every 24 hours for 2 days. After ivermectin, pulse therapy was started with 1g/day of methylprednisolone for 5 days. After pulse therapy, a dose of praziquantel was started and prolonged corticosteroid therapy was maintained with prednisone 1 mg/kg/day for 6 months.

**Discussion:** Schistosomiasis is considered endemic in 19 districts, one of which is the state of Sergipe, and the S. mansoni species, in addition to being the most prevalent, is also the one most associated with myeloradiculopathy. Diagnosis is based on epidemiology, neurological symptoms, microscopic and serological techniques, and magnetic resonance imaging (MRI) evaluation. In addition, it is necessary to rule out other possible diagnoses. Symptomatology corroborates to determine the degree of involvement of the lesion.

**Final Comments:** Schistosomiasis is an important and endemic parasitic.

ID: 534

Area: Neuromuscular diseases

Presentation method: Eletronic Poster

Autism spectrum disorder as a warning sign for muscular dystrophy

Tainá Maia Cardoso<fnref n="1" />*, Sarah Falcão Brasileiro Henriques<fnref n="2" />

Abstract

Case Presentation: A 15-year-old patient has been presenting progressive weakness for about six months. He reports that he can no longer play football like he used to and that long walks are increasingly difficult to tolerate. Creatine phosphokinase (CPK) dosage was requested, which was 5200 U/L and phase deletion of exons three to 16 of the dystrophin gene. The mother's CPK dosage was also requested, within the normal range. Past history of Autistic Spectrum Disorder diagnosis at age five, without continuous medication use.

**Discussion:** Becker Muscular Dystrophy (BMD) is a rare disorder determined by gene mutation at locus 21 on the short arm of the X chromosome. It presents elevated CPK levels, in addition to a myopathic pattern on electroneuromyography (rapidly recruited motor unit potentials of short duration and low amplitude). The clinical presentation is variable, with tip toe walking or exercise-related cramps. Muscle weakness can lead to functional difficulties, being proximally symmetrical with lower limbs more affected than upper limbs. Joint contractures and dilated myocardiopathy may occur. BMD is allelic to Duchenne Muscular Dystrophy

<footnote n="1">¹Hospital Universitário de Sergipe, Aracaju SE, Brazil.</footnote>

<footnote>*Correspondence: rodrigosantos15051991@hotmail.com.</footnote>

<footnote n="1">¹Fundação Oswaldo Cruz, Instituto Fernandes Figueira, Rio de Janeiro RJ, Brazil.</footnote>

<footnote n="2">²Universidade Federal do Rio de Janeiro, Rio de Janeiro RJ, Brazil.</footnote>

<footnote>*Correspondence: tainamaiacardoso@gmail.com.</footnote>
(DMD) but has a milder phenotype and longer survival. Autism Spectrum Disorder (ASD) is a disorder characterized by impaired language, social interaction, repetitive behaviors and restricted interests. Although the occurrence of ASD in patients with DMD is rare (3-5%), the risk is 2 to 3 times higher than in the general population, probably due to mutations in the distal portion of the dystrophin gene, after exon 45. Since the signs and symptoms of ASD appear earlier than those of DMD, and one of the early symptoms is walking on tiptoe, it is not uncommon for patients to have a delayed diagnosis of dystrophy. The diagnosis can be confirmed from the genetic study of dystrophin or through immunohistochemical study of the protein in muscle tissue. The treatment consists of corticotherapy, which promotes increased walking time, associated with motor and respiratory physiotherapy. The preventive use of non-invasive ventilatory support and the use of myocardial fibrosis remodeling drugs have modified modified the survival of the disease.

*Final Comments:* The suspected causes of ASD are as diverse as the spectrum itself, and reflect the intrauterine environment, the child's early life, and genetic inheritance. Identifying early signs and symptoms and recognizing its correlation with muscular dystrophy is essential for a better prognosis.

ID: 536

Area: Neurogenetics

Presentation method: Eletronic Poster

**Williams-Beuren region duplication syndrome: case report**

Tainá Maia Cardoso¹*, Sarah Falcão Brasileiro Henriques²

¹Fundação Oswaldo Cruz, Instituto Fernandes Figueira, Rio de Janeiro RJ, Brazil.

²Universidade Federal do Rio de Janeiro, Rio de Janeiro RJ, Brazil.

*Correspondence: tainamaiacardoso@gmail.com.

**Abstract**

**Case Presentation:** Patient, 14 years old, with prenatal diagnosis of pulmonary valve stenosis, submitted to pulmonary valvuloplasty after birth. She presented delayed cervical support, sitting, talking, and walking. She has difficulty keeping up with her class at school, does not know how to handle money, does not know how to look at the time on the clock, and does not leave the house alone. No parental consanguinity. On examination, normal hair implantation, broad forehead, small nose, prominent lips. Quite smiling, inattentive to the surroundings, bradykinetic and bradypsy-chic, performs simple commands, reads single words, cannot read a complete text. Referred to the genetics outpatient clinic and fluorescence in situ hybridization (FISH) was performed with the presence of microduplication 7q11.23.

**Discussion:** Microduplications are duplications too small to be detected by light microscopy using conventional cytogenetic methods. The phenotype of microduplication syndromes is usually less clear and less well defined than for the corresponding microdeletion syndrome. The specific genes on 7q11.23 are extremely sensitive to dosage changes that originate from deletions or duplications and that can influence the development of human language and visuospatial ability. The microdeletion present in Williams-Beuren syndrome (WBS) is evaluated using the FISH technique, which detects the hemizygosis of the elastin gene from blood analysis. It has a pattern of autosomal dominant inheritance, but most cases occur only in a single family member, being of de novo origin with a low risk of familial recurrence. Isolated supravalvular aortic stenosis is associated with intragenic

mutations of the elastin gene, while WBS involves deletions of the elastin gene in its entirety; this suggests that supra-valvular aortic stenosis, may be caused by quantitative or qualitative defects of the elastin gene. WBS is a rare neuro-developmental disorder that affects connective tissue and the central nervous system. It presents typical facial dysmorphisms, congenital heart defects, growth deficits, and intellectual disability. It exhibits dissociation between verbal and nonverbal cognitive domains, with fluent speech and elevated empathetic and sociable behaviors standing out.

*Final Comments:* The phenotype of patients with WBS who have duplication or deletion is quite variable, and diagnosis is difficult during childhood, as this is a disease of progressive manifestation and features may not be present early in life.

ID: 537

Area: Neurological manifestations of systemic diseases

Presentation method: Eletronic Poster

**Wilson's disease as part of the Leigh-like syndrome: case report**

Tainá Maia Cardoso¹*, Sarah Falcão Brasileiro Henriques²

¹Fundação Oswaldo Cruz, Instituto Fernandes Figueira, Rio de Janeiro RJ, Brazil.

²Universidade Federal do Rio de Janeiro, Rio de Janeiro RJ, Brazil.

*Correspondence: tainamaiacardoso@gmail.com.

**Abstract**

**Case Presentation:** Patient, 12 years old, admitted complaining of sialorrhea, dysarthria, dysphagia and rigidity of movements that started about a year ago, when it had progressively worsened four months ago and more markedly a week ago, when the family sought the emergency for guidance from the primary attention. During hospitalization, computed tomography of the skull was performed, which showed hypodensity of caudate nuclei bilaterally and symmetrically arranged. Without reports of fever, he denies any history of infectious symptoms prior to the onset of the condition, trauma or epileptic phenomena. Consanguineous parents (first cousins). Laboratory tests were within normal limits, except for a slight increase in transaminases, a twofold increase in aspartate aminotransferase and a one and a half times increase in alanine aminotransferase. Before the diagnostic hypothesis of Leigh-like Syndrome, genetic panel was requested for treatable diseases, showing homozygosity in the ATP7B gene, corresponding to Wilson's disease (WD). Subsequently submitted to ophthalmological examination with a slit lamp and showing Keiser-Fleisher rings.

**Discussion:** Leigh syndrome is a neurodegenerative disorder characterized by almost identical brain changes, focal, bilaterally symmetric lesions, particularly in the basal ganglia, thalamus, and brainstem. Most frequently the central nervous system is affected, with psychomotor retardation, seizures, nystagmus, ophthalmoparesis, optic atrophy, ataxia, dystonia, or respiratory failure. Leigh syndrome and Leigh-like syndrome are the mitochondrial disorders with the largest genetic heterogeneity. WD is caused by a mutation in the ATP7B gene, and its neurological manifestations are variable. The central nervous system is affected by a motor condition with movement disorders, due to lesions in the basal ganglia or cerebellar connections: dystonia, tremor, rigidity, bradykinesia, chorea and ataxia are present. Cognitive changes are common. Treatment is with copper binders and liver transplantation is reserved for patients with severe liver failure. The patient in the reported case was not a classic
case: he had no significant liver lesions. In this manner, genetic screening became important to help in discriminating among the differential diagnoses.

**Final Comments:** In view of the treatability of WD in relation to the differential diagnoses, it is necessary to emphasize the importance of genetic screening of patients for early elucidation, treatment and better prognosis of patients

ID: 538

Area: Inborn errors of metabolism

Presentation method: Presentation Poster

**Hyperargininemia mimicking spastic cerebral palsy: case report**

Lenamaris Mendes Rocha Duarte¹*, Daniel R. Carvalho¹,
Pedro Jorge S. Nascimento¹, Alessandra D. L. R. Ferreira¹

¹Rede SARAH de Hospitais de Reabilitação, Brasília DF, Brazil.

*Correspondence: lenamaris@gmail.com.

**Abstract**

**Case Presentation:** A case of a metabolic disease of the urea cycle - hyperargininemia, which mimics spastic cerebral palsy, in addition to reviewing the medical literature. Female, six-year-old patient, with no risk factors for brain injury, presented with spastic paraparesis, compromising gait, associated with cognitive and language impairment. Brain MRI showed cerebral atrophy. The initial diagnosis of spastic diplegic cerebral palsy, GMFCS IV, was excluded 3 years later, considering the clinical evolution and the amino acid profile by mass spectrometry, which showed an increase in plasma arginine concentration, compatible with the diagnosis of hyperargininemia. Sequencing in the ARG1 gene confirmed 2 pathogenic variants.

**Discussion:** Hyperargininemia is a rare, autosomal recessive metabolic disorder caused by an inherited deficiency of hepatocyte arginase due to a defect in the ARG1 gene. Arginase is the final enzyme in the urea cycle that catalyzes the hydrolysis of arginine to ornithine and urea. This genetic disorder is caused by more than 40 mutations found throughout the ARG1 gene, resulting in partial or complete loss of enzyme function. With the application of liquid chromatography-tandem mass spectrometry in selective screening and neonatal screening for inborn errors of metabolism, an increasing number of patients with argininemia are detected in the asymptomatic or early stages. Early diagnosis and a protein-restricted diet with citrulline and benzoate supplements may contribute to improving the patient's prognosis.

**Final Comments:** Confirmation of a genetic diagnosis has relevant implications for the patient and family, and some specific metabolic conditions may improve symptoms and developmental outcome. Genetic counseling can prevent a recurrence of the disease in the family and provide information to other members at risk. Several genetic problems can have clinical features that mimic cerebral palsy. It is essential to insist on the search for an accurate etiological diagnosis, especially among patients who do not have risk factors that justify the neurological condition.

ID: 541

Area: Others

Presentation method: Eletronic Poster

**Neurodevelopmental delay characteristic of Pallister Killian syndrome**

Laura França Malaquias¹,²*, Daniel Paulo Fonseca Dornelas¹,²,
José Carlos Alves Neto¹,², Viviane Sandes de Barros¹,²,
Magno Martins Lobo¹,², Vanessa Loures Rossinol¹,², Ícaro Silva
Magalhães¹,², Fernanda de Carvalho Martins¹,²

¹Centro Universitário de Caratinga, Caratinga MG, Brazil.

²Faculdade de Medicina do Vale do Aço, Ipatinga MG, Brazil.

*Correspondence: francalaura783@gmail.com.

**Abstract**

**Case Presentation:** An 8-year-old patient, male, non-verbal with delayed development in neuropsychomotor and language. The alterations were noticed at the age of 6 months, when the pediatrician who accompanied the case noticed the delay in development and referred him to the child neurologist, to the physiotherapist and to the speech therapist. The physiotherapy treatment provided normal gait and stability in gross movements, although, the fine movements didn't develop. Even with the follow-up of speech therapy, the patient didn't speak due to a maxillary monotony, emitting only babbling, despite his understanding not having any alterations, allowing the use of the Brazilian sign language for expression. Anatomical findings still culminate in sialorrhea, difficulty to sputum and dysphagia. The diagnosis was due to the karyotype test and the cytogenetic test, the arm count of the chromosomes identifies supernumerary short arms on chromosome 12.

**Discussion:** The isochromosome 12 syndrome is a rare congenital anomaly, characterized by a mosaic chromosome 12 due to 2 extra numerals short arms. The principal symptoms presented are craniofacial dysmorphism, heart disease and delay in neurological development. Early detection of correlated symptoms as well as the follow-up with the multidisciplinary team improved the patient's quality of life, which showed increased neurological development in the last years.

**Final Comments:** Owing to the scarcity of available literature of chromosomal Pallister-Killian syndrome, this article aims to share information on the multidisciplinary follow-up of a case in Ipatinga-MG.

ID: 546

Area: Neuroinfections

Presentation method: Presentation Poster

**The decline in child vaccination after the COVID-19 pandemic: is meningitis back?**

Italo Barros Andrade¹

¹Faculdade de Saúde Santo Agostinho, Vitória da Conquista BA, Brazil.

*Correspondence: vc_italo@hotmail.com.

**Abstract**

**Background:** National vaccination coverage is one of the largest immunization programs in the world, which has helped Brazil to eradicate and control several vaccine-preventable diseases over the last 50 years. However, during the pandemic, the widespread dissemination of misinformation about vaccination against COVID-19 was one of the main causes for the change in this scenario. The WHO and other international organizations are concerned about the increase in patients with meningitis in Brazil from 2021 to 2022 due to the decrease in children's immunization rates; Increased cases have been reported across the country. Meningitis, a
disease that promotes inflammation of the meninges, with the main infectious etiology, has as risk factors: extremes of age, inadequate vaccination, exposures and chronic medical conditions. Thus, it is clear that there is a direct relationship between reluctance to vaccination and the growing number of this pathology.

**Objective:** Correlate the lack of greater childhood vaccination coverage and the increasing rate of compulsory notification of pediatric patients with meningitis in Brazil by region. To describe the immunization of patients between 2 months and 14 years and its association with the increase in confirmed cases of meningitis in this same age group in all regions of Brazil in the Sistema Único de Saúde (SUS) between the years 2019 to 2022.

**Methods:** This will occur through the collection of secondary data from the Department of Informatics of the SUS (DATA-SUS). Therefore, a quantitative study was carried out, analyzing and comparing the frequency of absolute immunizations and the number of confirmed cases notified in the Notifiable Diseases Information System (SINAN).

**Results:** According to DATA-SUS, the Brazilian regions had a vaccination rate for Meningococcus C, Pentavalent and Pneumococcal vaccines reduced by approximately 5% between 2019 and 2022. Thus, the number of pediatric patients with meningitis increased by 3,035 children from 2021 to 2022.

**Conclusion:** In addition, although it is a disease that has a seasonal behavior, the vaccination coverage of these children directly impacted a higher incidence of meningitis in recent years. Thus, it is necessary to observe and disseminate more news and research that influence the vaccination of children from birth. Reversing the drop in immune coverage of this population and increasing prevention against meningitis.

ID: 548

## Area: Neuropsychiatric disorders and learning disorders

### Presentation method: Presentation Poster

#### WISC for screening learning disabilities in children and teenagers: an integrative review

Bernardo de Lima¹, Kamila Castro Grokoski¹, Rudimar dos Santos Riesgo¹

¹Universidade Federal do Rio Grande Do Sul, Porto Alegre RS, Brazil.

*Correspondence: bernardo.arv@gmail.com.

### Abstract

**Background:** The Wechsler Intelligence Scale for Children (WISC) is used not only as an intelligence test but as a clinical tool. This scale has been frequently used, since 1949, for screening children for learning disabilities. Since then, there has been an evolution and improvement of the scale. Currently, in its fourth edition, this is a widely used scale that encompasses domains that assess intellectual, cognitive, and verbal ability.

**Objective:** Evaluate the use and its applicability of the WISC in screening for learning difficulties in school-aged children.

**Methods:** A systematic review was carried out to assess learning difficulties screening scales. One of the search strategies was carried out to analyze studies that used the WISC as a tool. Variables were collected, such sociodemographic characteristic of the participants, evaluation protocols, and main results.

**Results:** In total, 384 studies were found, from those, 19 studies completed the criteria to be included in the review. Most of the papers were conducted at United States (63%), they evaluated 3774 children (64% males and 36% females) between 5 and 16 years old, with learning disabilities.

**Conclusion:** In the analysis of studies, the WISC was used to assess the amount of intelligence to exclude subjects with performance below or above the cutoff point stipulated as normal performance and, in the most part of the studies, was not able to detect learning disabilities, which indicate that this tool must have a complementary assessment to perform a wide evaluation.

ID: 549

## Area: Neurogenetics

### Presentation method: Eletronic Poster

#### Case report: DIGFAN syndrome

Renata Yasmin Cardoso Sousa¹, Aline Da Costa Lourenço¹, Gabriel De Lellis Neto¹, Hugo Leonardo Justo Horácio¹, Olívia Sorato Bezerra¹, Danielle Dutra Araújo¹, Josiane Ranzan¹, Josemar Marchezan¹, Michele Michelin Becker¹

¹Hospital de Clínicas de Porto Alegre, Porto Alegre RS, Brazil.

*Correspondence: renatscsousa@gmail.com.

### Abstract

**Case Presentation:** A 6-year-old male patient with regression of motor development from 1 year of age, microcephaly, peripheral neuropathy, seizures and severe malnutrition at the time of evaluation. Pre and perinatal and past pathological history without intercurrences. Brain MRI showed significant diffuse volumetric reduction of the cerebellum and minimal dysgenetic changes in the corpus callosum and electroneuromyography with chronic findings of lower motor neuron dysfunction. Panel for lysosomal and neuromuscular diseases without alterations. Exome sequencing was performed, which showed heterozygous de novo pathogenic alterations in the MORC2 gene.

**Discussion:** The DIGFAN syndrome (Developmental delay, impaired growth, dysmorphic facies and axonal neuropathy) is characterized by delay or regression of neuropsychomotor development, hypotonia, growth deficit, usually associated with short stature, microcephaly, subtly dysmorphic facial features and neuroimaging changes such as cerebral or cerebellar atrophy, hypomyelination, and lesions in the basal ganglia or brainstem may also occur. Some pathogenic de novo variants in the MORC2 gene are associated with the phenotypic expression of this condition.

**Final Comments:** In addition to DIGFAN syndrome, pathogenic alterations in MORC2 are associated with a wide phenotypic variability that encompasses diseases such as Marie-Charcot-Tooth and Spinal muscular atrophy in adults, making the identification of this syndrome a diagnostic challenge. Despite being a rare condition, the analysis of this gene should be considered in genetic panels, such as neurodevelopmental disorders and neuromuscular diseases, for its recognition and early intervention.
ID: 551

Area: Others

Presentation method: Eletronic Poster

Case report: Parry-Romberg syndrome

Renata Yasmin Cardoso Sousa¹, Hugo Leonardo Justo Horácio¹,
Danielle Dutra Araújo; Olívia Sorato Bezerra¹, Aline Da Costa
Lourenço¹, Gabriel De Lellis Neto¹, Michele Michelin Becker¹,
Josiane Ranzan; Josemar Marchezan¹

¹Hospital de Clínicas de Porto Alegre, Porto Alegre RS, Brazil.

*Correspondence: renatscsousa@gmail.com.

Abstract

**Case Presentation:** A 6-year-old male patient with a history of neurodevelopmental delay, autism spectrum disorder and epilepsy. He had facial asymmetry with reduced subcutaneous tissue with erythematous macules on the left hemiface, without involvement of the cranial nerves. Brain MRI showed a global increase in CSF spaces due to a moderate reduction in brain volume, more evident on the left, with a slight diffuse reduction in the thickness of the white matter, associated with a reduction in hippocampal volume. The patient's mother had a similar dermatological alteration, with progressive atrophy in the left hemiface, without etiological definition and had no associated neurologic symptoms.

**Discussion:** Parry-Romberg Syndrome is a rare disease characterized by progressive facial hemiatrophy, which may be associated with other systemic alterations, mainly neurological. Neurologic symptoms include seizures, cerebral hemiatrophy, trigeminal neuralgia, hemiparesis ipsilateral to the facial lesion. There is still no etiology for this syndrome, but it is believed that it may be related to trauma, immunity and autoimmune disorders. It usually occurs in the first decade of life, with slow progression for 2 to 20 years, and after this period, a period of stabilization is reached. Diagnosis is based on clinical history and physical examination, as well as exclusion of other conditions.

**Final Comments:** Early identification is important for intervention and proper management of affected patients in order to reduce the comorbidities that accompany these individuals. Immunosuppressive drugs may be considered in some patients, especially in cases of brain involvement.

ID: 552

Area: Neuroinfections

Presentation method: Presentation Poster

Recommendation of lumbar puncture in infants under two
years old with febrile seizures

Luisa Carolina Vinhal Costa¹, Daniel Almeida Valle¹

¹Hospital Pequeno Príncipe, Curitiba PR, Brazil.

*Correspondence: luisavinhal@gmail.com.*

Abstract

**Background:** A febrile seizure (FS) is an epileptic event that occurs due to fever resulting from an infection, not from the nervous system, in children aged between six months and five years without metabolic disorders or previous history of afebrile seizures. Seizures in a febrile context may be related to meningitis or meningoencephalitis, however, it is uncommon for children with bacterial meningitis to have only

seizures, without other suggestive clinical signs. For this
reason, the decision to perform a lumbar puncture is a
challenge, especially in children younger than 12 months,
when clinical signs of meningitis are less specific. The emer-
gency care of a children's Hospital in Curitiba performs
lumbar puncture in all children under 18 months with fever
and seizures. However, guidance on recommendation for
lumbar puncture in children with seizures is scarce and
heterogeneous.

**Objective:** To assess the prevalence of meningitis in this context to assist in the assessment of indication for lumbar puncture in cases of infants with FS in the emergency room of a children's Hospital in Curitiba.

**Methods:** 236 medical records of children under the age of 24 months who were treated for febrile seizures from 2016 to 2018 were evaluated. Thus epidemiological, clinical and laboratory variables were analyzed, which were assessed considering a significance level of 0,05. Medical records of children with previous neurological disease and incomplete information were excluded.

**Results:** There were evaluated 208 medical records of children aged under 24 months with fever and seizures, of whom 1.4% had bacterial meningitis, 2.9% meningoencephalitis and 5.8% viral meningitis. The mean age was 11 months, 57.7% of these patients were male and 11.50% of the infants had previous febrile seizures. Among this sample, age, type of seizure and its specific characteristics, previous use of antimicrobials and analysis of blood count and blood culture did not prove to be effective characteristics for the diagnosis of meningitis. As well as the presence of meningism, which does not exclude meningitis, especially in younger children. However, drowsiness or irritability before the seizure, vomiting and the absence of well-defined disease seems to be significant risk factors for meningitis.

**Conclusion:** Therefore, in a vaccinated urban population, the prevalence of meningitis is low in children with only fever and seizures, which suggests a review of the indications for performing lumbar puncture in these infants.

ID: 553

Area: Cerebrovascular diseases and
intensive care in child neurology

Presentation method: Eletronic Poster

Recurrent stroke in a 5-year-old child with Moyamoya
disease: a case report

Jessica Ariane Silva Valverde¹, Luisa Ribeiro Dias Godoy¹*,
Heder Atsushi Yaguchi¹, Caio Augusto de Martha Santos¹,
Gustavo Belani Piolli¹, Julia Ribeiro Dias Godoy¹

¹Universidade do Vale do Sapucaí, Pouso Alegre MG, Brazil.

*Correspondence: luisardgodoy@gmail.com.*

Abstract

**Case Presentation:** This case is about a previously healthy 7-year-old girl who, at the age of 3 years and 5 months, presented with aphasia and motor deficit in her right upper limb, followed by gelastic seizures. Imaging tests, including a computadorized tomography, Magnetic Resonance Angiography and Angioresonance of the skull, revealed tapering of the supraclinoid portion of the internal carotid arteries, middle cerebral arteries, and initial segments of the anterior cerebral arteries, indicating Moyamoya disease and ischemic stroke. Two months later, the patient returned with sudden recurrent neurological deficits, dysphagia, sialorrhea, mental confusion, psychomotor agitation, and Broca's aphasia and
was treated with diazepam and valproate. After two years, she presented with flaccidity, grade IV strength, altered tactile and painful sensibility in the left upper limb and central facial paresis on the right. She experienced a focal convulsive crisis, sialorrhea and left hemiparesis, which recurred during hospitalization and were treated with diazepam. She was diagnosed with a new ischemic stroke and aspirin was initiated.

**Discussion:** Moyamoya is a Japanese term meaning "puff of smoke" - a neuroimaging description of the appearance of abnormal lenticulostriate collateral vessels that results from the progressive stenosis of the intracranial internal carotid circulation that characterizes the disease. Although it has no defined etiology, it has been associated with genetic conditions, exposure to radiation, vasculitis and infection. Moyamoya syndrome is the term used when it develops secondary to an underlying disease. The main clinical manifestations include transient ischemic attack or ischemic stroke, seizures, hemiparesis, altered level of consciousness, speech and sensory disturbances. Other symptoms may include hemorrhage of the vascular neoformation and headache. According to the Suzuki staging system, the circulatory pattern seen in the patient's angioresonance would be classified as stage 3, in which there is an increase in Moyamoya vessels and stenosis of the internal carotid artery. There is no specific treatment, and management is symptomatic. Interventional treatments include surgery, direct and indirect bypass, and encephaloduroarteriosynangiosis.

**Final Comments:** A greater understanding of pathophysiology and scientific advances in specific treatment are essential to achieve further medical outcomes. Specialized management is necessary for patients with Moyamoya disease.

ID: 555

## Area: Neuropsychiatric disorders and learning disorders

### Presentation method: Eletronic Poster

#### Fluoxetine X risperidone: the drug treatment of RRB in pediatric patients with ASD

Isabelle Araújo Luz¹, Ítalo Barros Andrade¹*, Caroline Mâcedo de Figueiredo Santos¹

¹Faculdade de Saúde Santo Agostinho, Vitória da Conquista BA, Brazil.

*Correspondence: vc_italo@hotmail.com.

#### Abstract

**Background:** Autism spectrum disorder (ASD) is the second of the most common neurodevelopmental disorders. This disorder is defined by persistent deficits in social functioning and the presence of restricted and repetitive behaviors (RRBs). Research on pediatric autistic patients who progress with worst symptoms of RRB and receive efficient drug therapy to improve their quality of life is scarce. Furthermore, these types of drug treatments are difficult adherence in children. In this hypothesis, the patient and the family's insertion is important for resolving the framework.

**Objective:** To differentiate the quality and effectiveness of drug treatment between risperidone and fluoxetine in ASD pediatric patients with RRB.

**Methods:** This is a systematic review, quantitative studies that examined RRB in autistic children birth age 0 through age 18. From the published literature, 52 journal articles were identified and included in this review only 14 with 16 duplicates and 22 excluded. Eligible studies were located through a

search of PubMed, Scopus, Cochrane, and LILACS using the following keywords and roots.

**Results:** After taking fluoxetine doses for varying lengths of time, the 568 patients experienced positive effects and side effects like disturbed sleep, diarrhea, vomiting, agitation and irritability, and activation symptoms. Soon, 2391 who used risperidone had good results and some of these children had adverse effects like weight gain, insomnia, and hypertension. During the long-term use of this medication, hyperprolactinemia and gynecomastia were noted. Furthermore, when compared with a placebo, risperidone improved social behaviors and non-verbal communication and decreased obsessive compulsion. Thus, patients using risperidone obtained better scores on assessment scales. Additionally, one of the studies involved 10 children, 3 of whom showed no changes when risperidone withdrawal was indicated, and 7 of whom showed no symptoms after stopping risperidone treatment. Researchers have not found that fluoxetine has completely remission patients' symptoms in studies.

**Conclusion:** Our synthesis of the literature suggests that differences in RRB treatment in ASD pediatric patients are evident. The findings of this study indicate that each individual requires a unique and personalized approach, emphasizing patient and family education, in order to achieve adherence and correct use of the first line of treatment, antipsychotics, preferable risperidone, for the shortest period of time and dose possible.

ID: 557

## Area: Neurogenetics

### Presentation method: Presentation Poster

#### Description of a new severe variant of Sotos syndrome

Eduardo Ferraz Troijo¹*, Raquel Monico Cavedo¹, Pedro Zambusi Naufel¹, Fernanda Sá Bohn Assis¹, Natália Josiele Cerqueira Checon¹, Hugo José de Carvalho Garcia Santos¹, Rafael Guerra Cintra¹

¹Santa Casa de Misericórdia de São Paulo, São Paulo SP, Brazil.

*Correspondence: eduardotroijo@hotmail.com.

#### Abstract

**Case Presentation:** Late preterm male newborn, delivered by cesarean section due to polyhydramnios and fetal macrosomia, was born with good vitality. The mother had gestational diabetes, with no other important antecedents during pregnancy. The baby had birth weight, length and head circumference above the 98th percentile. In the neonatal period, he presented hypoactivity, dysphagia and drowsiness, without other associated symptoms, being discharged on the 16th day after normal neonatal screenings, diet progression and symptom improvement. During follow-up, the patient had several hospitalizations due to respiratory conditions. In addition, he evolved with notable hypotonia and dysphagia, requiring gastrostomy. Beyond that, the patient had a head circumference and length maintained close to the P98%, with significant developmental delay (Head erect and steady at age 6 months, sits without support at age 9 months, patient still does not walk holding onto furniture, eats by mouth or vocalizes without crying at 1 year and 1 month old). Progressive facial dysmorphism and scoliosis become evident at age 1 year. On investigation, laboratory tests, cranial MR with spectroscopy, fundoscopy, expanded newborn screening and CGH ARRAY were normal. In Exome, a probably pathogenic heterozygous variant in the NSD1 gene (NM_172349.2):
c.3625del:p (Ala1209GinfsTer9) was identified. This variant not yet described in the literature is expected to cause loss of function of an allele, which leads to pathogenicity related to Sotos Syndrome and is not present in population databases. The diagnosis of Sotos syndrome was made by relating the variant to the clinical picture.

**Discussion:** Diagnosing Sotos syndrome at first glance can be challenging due to the broad spectrum of the initial clinical presentation. There are patients with multiple congenital anomalies and neonatal complications and there are patients with relatively normal physical examinations. Furthermore, confounding factors such as anthropometric proportionality at birth may be present. The learning disability ranges from mild (affected individuals live independently) to a severe learning disability. However, cardinal characteristics in the medium and long term become evident and should refer to the diagnosis.

**Final Comments:** This report describes a new variant with findings of severe symptoms such as dysphagia requiring gastrostomy, scoliosis before the first year of life, significant developmental delay and early impairment in socialization.

ID: 558

Area: Neurogenetics

Presentation method: Presentation
Poster

Pathogenic variant of the COL4A1 gene simulating
congenital infection with central nervous system
involvement

Olivia Sorato Bezerra<fnref n="1" />*, Hugo Leonardo Justo Horácio<fnref n="1" />, Aline da Costa Lourenço<fnref n="1" />, Gabriel de Lellis Neto<fnref n="1" />, Danielle Dutra Araújo<fnref n="1" />, Renata Yasmin Cardoso Sousa<fnref n="1" />, Josemar Marchezan<fnref n="1" />, Lygia Ohlweiler<fnref n="1" />, Rudimar dos Santos Riesgo<fnref n="1" />

Abstract

**Case Presentation:** A late preterm female patient with no gestational or perinatal complications is admitted for investigation of congenital STORCH-Z infection. She presented periventricular calcifications on cerebral ultrasound and abnormal ocular findings suggestive of chorioretinitis. An extensive investigation for CMV, toxoplasmosis, rubella and herpes resulted negative. The ophthalmologic evaluation identified bilateral retinal detachment not consistent with congenital infection. A brain MRI showed areas of encephalomalacia due to previous ischemic events in the basal ganglia, periventricular white matter and cerebellum, in addition to signs of recent hemorrhage in the lentiform nuclei and the presence of polymicrogyria. At 1 month old, she presented tonic seizures and an abnormal EEG. Later, she developed motor delay, spasms and displayed an EEG with hypsarrhythmia, when treatment for West Syndrome was instituted. After complete genome analysis the patient was diagnosed with a genetic disorder related to COL4A1 [c.4927A>C p.(Lys1643Gln)]. Currently, she has refractory epilepsy and severe neurodevelopmental delay.

**Discussion:** The COL4A1 gene decodes the alpha-1 subunit of collagen IV, which forms the basement membrane of vascular, epithelial and smooth muscle structures. The aberrant formation of this protein results in vessel wall fragility and greater susceptibility to hemorrhages in the central nervous system, in addition to ocular, renal and cardiac alterations. The COL4A1 gene mutation is associated with a spectrum of

neurologic phenotypes, from asymptomatic carriers to more severe clinical scenarios such as the reported case presenting intraparenchymal hemorrhages from intrauterine life, severe delay in neuropsychomotor development, cognitive impairment and drug-resistant epilepsy. The clinical features are associated with structural abnormalities in neuroimaging, such as porencephalic cysts, periventricular leukoencephalomalacia, periventricular calcifications, cortical alterations (schizencephaly, cortical dysplasias and polymicrogyria) and posterior fossa abnormalities. These findings are often attributed to perinatal hypoxic-ischemic insults or associated with congenital infections.

**Final Comments:** In newborns with neurological impairment and abnormalities suggestive of congenital infection and/or perinatal insult with an inconsistent history and negative investigation, a genetic disorder should be raised as a differential diagnosis.

ID: 559

Area: Neuroinfections

Presentation method: Eletronic Poster

Epstein-Barr encephalitis in immunocompetent adolescent

Samilla Cristine Lima Oliveira<fnref n="1" />*, Aléxia Alves Cabral<fnref n="1" />,
Natália Virginia de Oliveira Ambrósio<fnref n="1" />, Pâmella de Melo
Soares<fnref n="1" />, Ruth Fiszon Zagarodny<fnref n="1" />, Adriane Batista Fonseca
Poubel<fnref n="1" />, Carla Teixeira Nascimento<fnref n="1" />, Gabriela Rochedo Villela<fnref n="1" />,
Gustavo Adolfo Rodrigues Valle<fnref n="1" />

Abstract

**Case Presentation:** Female, 11 years old, previously healthy, started with fever and vomiting, progressing to generalized tonic-clonic seizures and lowered level of consciousness. She required mechanical ventilation and intensive care. In the suspicion of nervous system infection, empirical treatment for meningitis was initiated. In the cerebrospinal fluid (CSF), a positive test of polymerase chain reaction (PCR) for Epstein Barr virus (EBV) was obtained. Magnetic resonance imaging (MRI) of the skull showed hypersignal in the caudate nuclei and putamen on T2/FLAIR. Ophthalmologic examination revealed EBV macular retinopathy. She was treated with phenytoin, phenobarbital, carbamazepine, sodium valproate and levetiracetam. During the rehabilitation process, she presented new fever peaks, focal dysperceptive seizures and generalized tonic-clonic seizures, in addition to the appearance of erythematous papules on the trunk and limbs. In case of suspected pharmacodermia, all medications were suspended, remaining only with clobazam and then with levetiracetam. Skin biopsy showed Toxic Epidermal Necrolysis (TEN). After managing the condition and adequate control of the seizures, there was regression of the lesions and only facial myoclonus remained.

**Discussion:** The prevalence of EBV encephalitis amounts to 2-30%, being higher in children up to 4 years old or in those hospitalized for infectious mononucleosis (IM). The manifestations are, in general, nonspecific, and the diagnosis must be made with the presence of EBV antibodies and PCR in the blood or CSF. In this case, the patient was older than expected, without initial symptoms of MI, making the diagnosis challenging. Therefore, EBV should be considered as the cause of viral encephalitis in childhood, and PCR research for EBV is important. The neuroimaging (MRI) findings in the case described are similar to those reported in the literature.

<footnote n="1">¹Hospital de Clínicas de Porto Alegre, Porto Alegre RS, Brazil.</footnote>

<footnote>*Correspondence: olivia.sorato@gmail.com.</footnote>

<footnote n="1">¹Hospital Federal do Servidores do Estado, Rio de Janeiro RJ, Brazil.</footnote>

<footnote>*Correspondence: samillalima93@gmail.com.</footnote>
Currently, there is no standard protocol for the treatment of EBV encephalitis, with supportive measures being the mainstay of therapy, which was the approach followed in the reported case, in addition to treatment to control the seizures.

**Final Comments:** Therefore, EBV encephalitis is mainly found in immunocompromised individuals, and needs to be considered in children who have a suspected central nervous system infection, even in the absence of IM symptoms. Diagnosis is challenging and early recognition and adequate supportive treatment are crucial for a good prognosis.

ID: 561

## Area: Neuromuscular diseases

### Presentation method: Presentation Poster

**A real-world analysis of an XLMTM patient cohort from the MTM and CNM international patient registry**

Chiara Marini-Betolo<fnref n="1" />, Ana Buj Bello<fnref n="2" />,<fnref n="3" />, Faryn Solomon<fnref n="4" />, Jess Page<fnref n="1" />, Tmirah Haselkorn<fnref n="4" />, Joanna Pangou<fnref n="1" />, Julie Coats<fnref n="4" />, Joanne Bullivant<fnref n="1" />, James J. Dowlling<fnref n="5" />, Kennedy Kirk<fnref n="6" />

### Abstract

**Background:** X-linked myotubular myopathy (XLMTM) is a rare genetic neuromuscular disorder for which there is limited real-world data.

**Objective:** To describe demographic and clinical characteristics of male patients with XLMTM in the Myotubular Myopathy (MTM) and Centronuclear Myopathy (CNM) Patient Registry.

**Methods:** We performed a cross-sectional analysis of a genetically confirmed, living male patient cohort with XLMTM from the international MTM and CNM Patient Registry. As the data are patient-entered, some analyses had different denominators due to varying response rates for certain questions. Results were de-identified and reported at the aggregate level from patients' most recent data entry. Analyses were not performed for response rates ≤2 patients. Data lock was on July 22nd, 2022.

**Results:** A total of N=88 patients were included. Mean age was 11.7 years (range: 0 to 59 years). Mean age at genetic report was 4.1 years (range: 0 to 46 years) for n=73 responding patients. Fifty-four of 85 responding patients (63.5%) had received a muscle biopsy. The best motor milestone reported by patients (n=79) was 43.2% unable to sit or walk without support, 7.4% able to walk supported, 16.1% able to sit on their own, 21.0% able to walk on their own, and 12.4% unknown. Of 88 patients, most (73.9%) reported requiring ventilation at birth; approximately 45.5% reported currently utilizing ventilation ≥16 hours/day, 25.0% utilized <16 hours/day, including while sleeping and awake, 9.1% utilized ventilation <16 hours/day, but only while sleeping, and 10.2% did not utilize ventilation.

Of 82 responses, 58.5% reported feeding tube only, 30.5% reported no feeding tube, and 11% reported a gastric or nasal tube with some oral feeding. Of 81 responses, 55.6%, 4.9%, and 29.6% reported using a wheelchair all the time, some of the time, and never, respectively.

**Conclusion:** The MTM-CNM Patient Registry provides a unique opportunity to examine real-world data in patients with XLMTM with evidence of varying severity. Data suggests that the disease burden of XLMTM is substantial, with most patients experiencing limited motor function and requiring respiratory support at birth and in daily life. Use of assistive devices and gastric or nasal tubes was common. Limitations include varying response rates, missing data, and the cross-sectional nature of this analysis. These data contribute to the understanding of XLMTM and highlight the need for improved treatments for these patients.

ID: 563

## Area: Epilepsies

### Presentation method: Eletronic Poster

**Prevalence of electrographic changes in patients with initial presentation of complex febrile seizures at the pediatric emergency care: retrospective analysis**

Bruno Antunes Contrucci<fnref n="1" />, Eduardo Silveira Marques Branco<fnref n="1" />, Vanessa Limeira Pontes de Lucena<fnref n="1" />, Sarah Lima Ribeiro<fnref n="1" />, Laura Domingues Fuster Pinheiro<fnref n="1" />, Rodrigo Santana Arruda<fnref n="1" />, Maiave Micaelle Figueiredo de Matos<fnref n="1" />, Maria Avanise Yumi Minami<fnref n="1" />, Ana Paula Andrade Hamad<fnref n="1" />

¹Universidade de São Paulo, Faculdade de Medicina de Ribeirão Preto, Hospital das Clínicas, Ribeirão Preto SP, Brazil.

### Abstract

**Background:** Responsible for the most common neurological disorder in infants and young children, febrile seizures are defined as clinical expressions of abnormal neuronal discharges in the presence of fever. Age dependent, healthy children, without evidence of central nervous system infection, defined cause or previous non-febrile seizure, with a high incidence in young infants. Identified as simple when presents with generalized semiology, less than 15 minutes, non-recurrence in 24 hours, being considered as benign phenomena. However, when focal, prolonged episodes, early recurrence, are classified as complex, with increased risk of developing epilepsy in the future, especially when electroencephalographic (EEG) changes and family history are evidenced.

**Objective:** Evaluate the prevalence of electroencephalographic changes in children with complex febrile seizures at the Emergency Care.

**Methods:** Analysis of medical records, retrospectively, during the period from January 2021 to January 2023, of patients with complex febrile seizures who subsequently underwent EEG. Patients with previous history of seizures, evidence of central nervous system (CNS) infection, history of prematurity, genetic syndromes and other potential causes of symptomatic changes in CNS were excluded.

**Results:** 42 children with complex febrile seizures were included, 16 girls (38%) and 26 males (62%). 10 had a positive family history for febrile seizures and/or epilepsy (24%). 17% presented with less than 1 year old, 43% were between 1 and 2 years old and 40% more than 2 years old. EEG alterations were evidenced in 16 patients (38%), 11 showed focal abnormalities (26%), 4 were nonspecific findings (9%) and 1 with base

<footnote n="1">¹Newcastle University and Newcastle Hospitals NHS Foundation Trust, Translational and Clinical Research Institute, The John Walton Muscular Dystrophy Research Centre, Newcastle upon Tyne, United Kingdom.</footnote>

<footnote n="2">²Genethon, 91000, Evry, France</footnote>

<footnote n="3">³Université Paris-Saclay, Univ Evry, Inserm, Genethon, Integrare Research Unit UMR_S951, 91000, Evry, France.</footnote>

<footnote n="4">⁴Astellas Gene Therapies, San Francisco, California, United States.</footnote>

<footnote n="5">⁵The Hospital for Sick Children; Toronto, Canada.</footnote>

<footnote n="6">⁶Universidade do Estado do Rio de Janeiro, Faculdade de Ciências Médicas, Rio de Janeiro RJ, Brazil.</footnote>

<footnote>*Correspondence: jader.baima@astellas.com.</footnote>

<footnote>*Correspondence: bruno_acontrucci@hotmail.com.</footnote>
disorganization. Of the children who had a positive family history, 30% had a focal alteration. Neurophysiological alterations were evidenced in about 40% of the patients with complex febrile seizures, mainly with focal abnormalities, where about 30% of these had a positive family history and 80% with more than 2 years old.

**Conclusion:** Such data corroborate existing statistics that there is probably a greater risk of developing epilepsy in complex febrile seizures and with a positive family history, demonstrating focal electrographic alterations denote an anatomical substrate for this.

ID: 564

Area: Neurogenetics

Presentation method: Presentation
Poster

Microcephaly, epilepsy, sleep disorder and movement
disorder in the heterozygote variant in the NCAPH gene:
case report

Amanda Barbiero Grando<fnref n="1" />*, Marta Regina Clivati<fnref n="1" />, Isadora
Debona Oliveira<fnref n="1" />

¹Centro Universitário Fundação Assis Gurgacz, Cascavel PR, Brazil.

*Correspondence: abarbierogrando@gmail.com.

Abstract

**Case Presentation:** Patient M.C.R.Z.N, female, two years old, firstborn, medical history of maternal infection, caused by Covid-19, on the tenth gestational week. The patient was born at 36 weeks with microcephaly and throughout the neonatal screening infectious causes of microcephaly were discarded. The patient evolved with spastic cerebral palsy, neurodevelopment disorder, epilepsy and a movement disorder. Due to the proton magnetic resonance spectroscopy, it was observed microcephaly, without anomalous calcification, severe atrophy of the corpus callosum, existing septum pellucidum, discreet ventriculomegaly classified as atrophic, bilateral incomplete hippocampal inversion, mild cortical atrophy, mild and severe decrease of the volume of deep white matter. And the proton MR spectroscopy indicates the presence of an anomalous peak of lactate in the cerebral parenchyma and a reduction of the peak of Naa. It developed with epileptic spasms, which were treated with vigabatrin. The scenario was associated with a movement disorder exhibiting dystonia crises and persistent sleep disorder. Dystonia manifested a partial recovery with the administration of baclofen, after being exchanged for gabapentin, with a positive response. To the sleep disorder it was administered periciazine, levom promazine, melatonin and amitriptyline and cannabidiol, however the insomnia persists. Regarding epilepsy, its spasms were controlled with vigabatrin and in its development there were focus crises, which were controlled with oxcarbazepine, with great irritability as a result of the previous administration of levetiracetam. Along the investigation it was proven through the sequencing of the complete exome a variant in heterozygosis in the NCAPH gene, classified as a variant of uncertain meaning.

**Discussion:** The heterogeneous variant found is located in the NCAPH gene, in the chromosome region 2q112. This gene codifies proteins which take part in the stages of the cell cycle, resulting in a troubled line of the cleavage plan of the neural progenitors. Pathogenic variants in this gene are associated with primary microcephaly classified as type 23, autosomal recessive.

**Final Comments:** The case report is important due to the lack of literature about this genetic disorder, distinguishing this as the first Brazilian case which was diagnosed and reported.

ID: 565

Area: Neuropsychiatric disorders and
learning disorders

Presentation method: Eletronic Poster

Application of the Conners' scale in children with academic
underachievement

Hisadora Gemelli<fnref n="1" />, Natália Custódio Uggioni<fnref n="1" />, Amanda Fontana Gouveia<fnref n="1" />, Cássia Hellen Longhinotti<fnref n="2" />, Ana Carolina Decker da Silva<fnref n="2" />, João Vitor Pereira de Sousa<fnref n="2" />, Sthefanny Josephine Klein Ottoni Guedes<fnref n="2" />, Fernanda Bortolanza Fernandes<fnref n="1" />, Marcos Antonio Da Silva Cristovam<fnref n="1" />,<fnref n="2" />

*Correspondence: ma.cristovam@uol.com.br.

Abstract

**Background:** Attention-Deficit Hyperactivity Disorder (ADHD) is a disorder diagnosed in childhood and is characterized by inattention, impulsivity and excessive motor activity, which impairs the neurocognitive development of these children. Thus, it is a problem that requires attention and care. Screening by trained professionals is essential for early diagnosis and treatment. One of the forms of diagnostic screening is the use of the Conners' Scale filled by parents or guardians.

**Objective:** Application of the Conners' Scale–Brazilian Version by Rosa Neto for screening of ADHD in children with academic underachievement.

**Methods:** Conners' Scale-Rosa Neto's Brazilian Version was applied in students with low academic performance at a university hospital. For this research the following cutoff points of the scale were used: Hyperactivity/Impulsivity: 10; Attention Deficit: 10; Conduct Disorder: 11; Hyperactivity + Attention Deficit: 18; and global ADHD: 30.

**Results:** Eighty-one medical records were evaluated, of which, 63 had the Conners' Scale filled; 43 (68.2%) were male and 20 (31.7%) were female. Age ranged from 6 to 13 years old (average: 7.3). Concerning grades, it ranged from 1st to 8th grades of elementary school, with the 3rd grade being the most frequent. Regarding the diagnosis, 18 (28.5%) scored for Hyperactivity/Impulsivity, 15 (83%) boys and three (17%) girls. Thirty-six (57.1%) scored in Attention Deficit, being 23 (64%) male and 13 (36%) female. Twenty-two (34.9%) scored for Conduct Disorder, 16 (50%) boys and six (19%) girls. Thirty-one (49.2%) scored for Hyperactivity + Attention Deficit, 22 (71%) male and nine (29%) female. Twenty-three (36.5%) scored for overall ADHD, 17 (51%) boys and six (18%) girls. Furthermore, 10 (15.8%) scored only in one category, four girls and six boys. Seven (11.1%) scored only for Attention Deficit, three girls and four boys. Two (3.1%) scored only for Conduct Disorder, one boy and one girl, and one male (1.5%) scored only for Hyperactivity/Impulsivity. Among the students, 19 (30%) did not score for any disorder, 13 (20.6%) males and six (9.5%) females.

**Conclusion:** In this study, there was a predominance of Attention-Deficit Disorder followed by Hyperactivity + Attention Deficit. There was a predominance of males, externalizing problems such ADHD are most common in boys, as evidenced in the literature.

<footnote n="1">¹Hospital Universitário do Oeste do Paraná, Cascavel PR, Brazil.</footnote>

<footnote n="2">²Universidade Estadual do Oeste do Paraná, Cascavel PR, Brazil.</footnote>
ID: 566

Area: Neuroinfections

Presentation method: Eletronic Poster

Acute transverse myelitis secondary to schistosomiasis

Janaina Moraes Araujo¹, Lilian Aparecida Sansao¹, Emanuelle Bianchi da Silva Rocha¹, Renan Campi Gomes¹, Debora de Cassia Tomaz Fernandes¹, Felipe Pires Albuquerque¹, Livia Pires Albuquerque¹

¹Faculdade de Medicina de São José do Rio Preto, São José do Rio Preto SP, Brazil.

*Correspondence: janaina_ni@hotmail.com.

Abstract

**Case Presentation:** An 8-year-old boy started with severe lower limbs pain, worse on the left, associated with pares- thesia that after 15 days progressed to asymmetric para- paresis without sphincter involvement. Her parents denied recent vaccination or infections. On neurological examina- tion, the patient presented asymmetrical paraparesis (MRC grade 3 on the left and grade 4 on the right), bilaterally abolished patellar reflex and superficial anesthesia in the left leg with sensory level in the knee. Magnetic resonance imaging of the thoracic and lumbosacral spine showed ex- pensive lesions in the T12-L1 segments of the thoracic spinal cord and in the conus medullaris, with contrast enhance- ment. Cerebrospinal fluid evidenced lymphomononuclear pleocytosis (22 leukocytes and 5 eosinophils) and proteinor- rachia (90 mg/dL). Blood count showed significant absolute eosinophilia (780/µL). Electromyoneurography had no alter- ation. After the results, we reviewed clinical history, and the parents reported a trip to the inner of Bahia's state a year ago that included bathing in lagoons and waterfalls. Therefore, we elaborated the hypothesis of neuroschistosomiasis (NS) and instituted empirical treatment with corticosteroids and pra- ziquantel. The presumptive diagnosis was confirmed with the presence of antibodies against Schistosoma mansoni on cerebrospinal fluid.

**Discussion:** Acute transverse myelitis is a rare disorder with several etiologies, inflammatory post-infectious is the most common. Pathogens that typically affect the conus medullaris are cytomegalovirus, herpes simplex type II and S. mansoni. Clues for the diagnosis of neuroschistosomiasis are low medullary injury, history of exposure to problable schisto- some-infected water and eosinophils in the cerebrospinal fluid, as in our case. It is very important to exclude other causes, especially compressive and non-inflammatory. The definitive diagnosis requires the visualization of eggs or adult worms in the central nervous system; however, cerebrospinal fluid examination with search of antibodies against S. man- soni is an interesting alternative, as we reported here.

**Final Comments:** We emphasize that even today, schistosomal myelopathy have to be considered because this is one of the most severe forms of schistosomiasis and may lead to per- manent neurological damage.

ID: 567

Area: Headaches and other non-epileptic paroxysmal disorders

Presentation method: Eletronic Poster

Acute confusional migraine in a teenager: a rare entity

Janaina Moraes Araujo¹, Lilian Aparecida Sansao¹, Emanuelle Bianchi da Silva Rocha¹, Debora de Cassia Tomaz Fernandes¹, Renan Campi Gomes¹, Felipe Pires Albuquerque¹, Livia Pires Albuquerque¹

¹Faculdade de Medicina de São José do Rio Preto, São José do Rio Preto SP, Brazil.

*Correspondence: janaina_ni@hotmail.com.

Abstract

**Case Presentation:** JLL, male, 12-year-old, caucasian, with a presumed diagnosis of Attention-Deficit/Hyperactivity Dis- order admitted on the emergency room of a tertiary hospital presenting severe and pulsating left hemicranial headache associated with nausea and two vomiting episodes. Two hours after onset of the pain, he acutely developed mental confusion, temporal and spatial disorientation and psycho- motor agitation. Five hours later, these symptoms resolved spontaneously. We administered only analgesics and antie- metics to improve headache. Neurological examination was normal, before and after the attack. Complementary investi- gation including routine laboratory exams, magnetic reso- nance imaging of the brain and prolonged electroencephalogram had no alterations. Previously, four months ago, the patient had the same episode. At that time, it was attributed to the use of lisdexamfetamine and the medication was discontinued. Now, our diagnosis was Acute Confusional Migraine and because he had only two crises so far, we decided to adopt just an abortive treatment, without prophylaxis for migraine.

**Discussion:** The prevalence of migraine is high, including in pediatric population (11% in childhood and 23% in teenagers). However, Acute Confusional Migraine is a rare variant, most common in this age group, especially on males with a proportion of three boys for one girl. At 80% of the cases, headache occurs previous or after the acute confusional state. The duration of the cognitive symptoms range from two to 24 hours and rate of recurrence is estimated in 33%. Considering the association of headache and alteration of consciousness level, the diagnostic is by exclusion, therefore, complemen- tary investigation to exclude structural lesions, infections, metabolic disturbances, seizures, medications poisoning or drug abuse is essential. According to the literature, we report here a male teenager with two episodes of cognitive symp- toms started after the headache, with normal investigation and resolution within 24 hours.

**Final Comments:** Acute Confusional Migraine is one uncommon and poorly understood condition. Our purpose is to disseminate knowledge of this entity, which should be considered in patients with this presentation and normal investigation, especially in pediatric group.

ID: 569

Area: Neuropsychiatric disorders and learning disorders

Presentation method: Eletronic Poster

Application of a questionnaire for screening of attention deficit with hyperactivity disorder in children with academic underachievement

Eline da Ros Moro¹, Fernanda Bortolanza Hernandes², Mariana Defazio Zomerfeld², Giulia Gabriela de Melo Fritz², Maria Fernanda Munhak da Silva¹, Patricia Tsen¹, Maria Julia Todero¹, Sthefanny Josephine Klein Ottoni Guedes¹, Marcos Antonio da Silva Cristovam¹,²*
*Correspondence: ma.cristovam@uol.com.br.

**Abstract**

**Background:** Attention-Deficit with Hyperactivity Disorder (ADHD) is a common situation in childhood, and is characterized by inattention, impulsivity and excessive motor activity, which impairs the neurocognitive development of the children. Thus, it is a problem that requires attention and care. Screening by trained professionals is essential for early diagnosis and treatment. One of the forms of diagnostic screening is the use of the Swanson, Nolan, and Pelham (SNAP-IV) questionnaire, which is an effective tool that measures symptoms of inattention and impulsivity. This condition is related to academic underachievement and without diagnosis and treatment, compromises human development of child.

**Objective:** To screen for ADHD diagnosis in a sample of children with academic underachievement, by applying the SNAP-IV questionnaire.

**Methods:** Cross-sectional observational and epidemiological study, conducted through of the evaluation of medical records and their respective score on SNAP-IV questionnaire of school-aged children, evaluated in a university hospital's outpatient clinic of academic underachievement. The analyzed variables were age, gender, body mass index (BMI) and grade, and their correlation with the SNAP-IV score.

**Results:** 56 participants there were filled the SNAP-IV, 36 (66.1%) were male, the mean age was 8.7 years, and most was in 3rd and 4th grades. About 38 (67.9%) of the students had positive screening for ADHD diagnosis, with a high prevalence in boys. Overweight children had higher inattention values, while children with obesity had some ADHD diagnosis. Inattention remained relatively consistent, as well as hyperactivity declined over the school years, however there was no association between grade and ADHD.

**Conclusion:** ADHD was most common in males and with high frequency when compared with the literature. An association between ADHD diagnosis and overweight was identified, however there was no association with obesity, despite the high proportion of children with obesity in participants with ADHD disorder. This observation is a warning for early interventions since the treatment can decrease the impact of ADHD on weight gain.

**Background:** Chronic exposure to stressful stimuli can result in dysregulation of the hypothalamic-pituitary-adrenal (HPA) axis, leading to increased circulating cortisol levels. When this dysregulation occurs during early stages of life, including during pregnancy, it can affect cognitive development and increase the risk of depression and anxiety disorders throughout life. There is evidence that mothers who have experienced traumatic situations before conception, during pregnancy, or in the early months of their offspring's life exhibit alterations in salivary cortisol levels and so do their infants, even if they have not directly experienced the stressful stimuli.

**Objective:** To investigate whether there are effects of maternal cortisol levels and/or infant cortisol levels on total brain volume (TBV) and head circumference (HC) of infants (at birth and on the day of magnetic resonance imaging) in the first month of life.

**Methods:** A multivariate generalized linear model (GLM) was conducted to investigate the effects of maternal cortisol levels and infant cortisol levels on TBV obtained from magnetic resonance imaging and HC of infants from a cohort in São Paul, comprising mothers with and without a history of childhood maltreatment (case and control group). GLM analysis was conducted separately by sex and controlled for group and infant age in weeks on the day of MRI, referenced from the mother's last menstrual period before gestation (PMA). The statistical significance was set at 0.016 (i.e., 0.05/3; Bonferroni correction).

**Results:** Data from 126 dyads (F=57) were analyzed. The mean PMA of infants was 43.7 (±1,64) days. GLM showed a trend of maternal cortisol effect on HC obtained on the day of MRI only in female infants (F(1)=4.351; p=0.042; η<fnref n="2" />=0.077), suggesting that higher maternal cortisol levels were associated with smaller HC in female infants on the day of MRI (β=-0,78; t=-2,086).

**Conclusion:** The analyses showed lack of evidence for the impact of cortisol levels (maternal and infant) on TBV and HC at birth in the overall sample and in the group of male infants. However, a trend was observed for maternal cortisol to predict HC of female infants on the day of MRI (PMA=47.7-days), where higher maternal cortisol levels were associated with smaller HC, suggesting a negative impact of stressful events during pregnancy on neurodevelopment.

ID: 571

Area: Neuroimaging

Presentation method: Presentation Poster

The impact of maternal cortisol levels on neonatal total brain volume and head circumference

Larissa Melo Marques de Sousa<fnref n="1" />, Célia Maria de Araújo<fnref n="2" />,
Vinícius Oliveira Santana<fnref n="2" />, Lucas Pinto Ribeiro<fnref n="2" />, Gabriela Matos
Rodrigues<fnref n="2" />, Moira Valvassori<fnref n="2" />, Ivaldo da Silva<fnref n="2" />, Aline Camargo
Ramos, Andrea Parolin Jackowski<fnref n="2" />

*Correspondence: marq.lari@gmail.com.

**Abstract**

ID: 572

Area: Neuroinfections

Presentation method: Eletronic Poster

Neonatal meningitis and intracranial empyema due to Proteus mirabilis: a case report

Anna Jamylle Dias Borges Leal<fnref n="1" />*, Rebeca Montalverne Barreto de Paula Pessoa<fnref n="1" />, Kathiane Moreira de Freitas Martins<fnref n="1" />,
Gabrielle Gomes de Sousa<fnref n="1" />, Priscila Magalhães de Medeiros<fnref n="1" />,
Claudiane Cavalcanti Pessoa Pascoal<fnref n="1" />

*Correspondence: jamylle_dias@hotmail.com.

**Abstract**

**Case Presentation:** Term Newborn, male, small for gestational age, born by cesarean delivery because of acute fetal distress and gastrochisis, was submitted to surgery immediately after birth on 01/14/23. On 01/27/23 the newborn was presented with hyperthermia and apnea, resulting in investigation for sepsis. Blood and liquor cultures were positive for

<footnote n="1">¹Universidade Estadual do Oeste do Paraná, Cascavel PR, Brazil.</footnote>

<footnote n="2">²Hospital Universitário do Oeste do Paraná, Cascavel PR, Brazil.</footnote>

<footnote n="1">¹Pontifícia Universidade Católica de São Paulo, Faculdade de Ciências Médicas e da Saúde, Sorocaba SP, Brazil.</footnote>

<footnote n="2">²Universidade Federal de São Paulo, Escola Paulista de Medicina, São Paulo SP, Brazil.</footnote>

<footnote n="1">¹Universidade Federal do Ceará, Complexo Hospitalar, Fortaleza CE, Brazil.</footnote>
Proteus mirabilis and sensitive to fourth generation cephalosporins. The baby was submitted to transfontanellar ultrasound, that showed signs of supratentorial ependymitis with ventriculomegaly on 02/02/23, causing the neonatologists to change the therapy for carbapenem and aminoglycoside. The patient, however, evolved with seizures, hyperthermia and apnea. On 03/03/23 was submitted to magnetic resonance imaging that showed empyemas in the middle and posterior cranial fossa. Medical assistant decided to continue the antimicrobial therapy and to not submit the baby to a surgery intervention. The baby evolved with negative cultures and with improvement of symptoms, with hospital discharge on 04/12/23 (3 months old).

**Discussion:** Neonatal bacterial meningitis is a devastating infection, associated with many neurological complications, such as seizures, encephalopathy and intracranial empyema. The most common pathogens are Group B Streptococcus (GBS) and Escherichia coli, but the Proteus mirabilis is considered a pathogen with great morbidity and mortality. Proteus mirabilis is a Gram-negative bacterium, more commonly associated with urinary Tract infections, that corresponds to 4% of meningitis cases and it is associated with cerebral empyemas and complications.

**Final Comments:** Neonatal meningitis due to Proteus mirabilis is a potential life-threatening condition. This case report is relevant considering the presentation, the unusual pathogen and the outcomes. Patients with these findings should remain in follow-up considering the potential complications post-acute phase of the infection.

ID: 573

**Area: Neuroinfections**

**Presentation method: Eletronic Poster**

**Past, present and future of meningitis in Brazilian children and teenagers: a trend analysis from 2002 to 2022**

Alessandro Vidal de Oliveira<fnref n="1" />, Geovanna Barros Rocha<fnref n="1" />*, Ana Luiza Nepomuceno Sampaio<fnref n="1" />, Ana Lucy Peixoto Rabelo<fnref n="1" />, Laura Lino Gonçalves<fnref n="1" />

**Abstract**

**Background:** Meningitis is a serious disease that affects the membranes that cover the central nervous system, causing inflammation. Typically, children and teenagers are more affected due to the immaturity of the blood-brain barrier and the immune system, which may result in prolonged permanent side effects or death.

**Objective:** To analyze the trend of incidence and mortality of meningitis in children and teenagers aged 0 to 19 years in Brazilian macro-regions, from 2002 to 2022.

**Methods:** This is an ecological study of time series carried out in Brazilian macro-regions with data from the Notifiable Health Conditions Information System (SINAN), from 2002 to 2022. Statistical analyzes were performed with the Joinpoint software, using the Monte Carlo permutation method and the logarithm of the ratio to estimate the Average Annual Percent Change (AAPC) of incidence and mortality.

**Results:** There were 274,500 cases of meningitis during the analyzed period, in which 59.8% were male and 52.7% were between 0 to 4 years old. Furthermore, there were 17,162 deaths, in which 56.8% were male. Meningococccemia was the etiology that presented the highest lethality rates, mainly in 2020. Regarding the incidence, the highest numbers were in

the age group from 0 to 4 years in all macroregions, with the South having the highest average incidence and the North having the lowest values in all age groups. In mortality, the most affected age group was the same as the incidence and the Southeast Region presented the highest average rate. The trend of incidence (AAPC: -5.8, CI 95%: -7.2;-4.3) and mortality (AAPC: -8.5, CI 95%: -9.3;-7.6) are decreasing in Brazil as a result of the descending trends in all regions, with the incidence showing greater reductions of the AAPC in males, except in the Midwest Region, and, in terms of mortality, the North Region was the only one that showed greater reductions in the males. Finally, the projection of incidence and mortality rates were carried out over a period of 10 years, in which it is expected a reduction of 45% in the incidence and 62.3% in mortality rates in Brazil.

**Conclusion:** Meningitis has a decreasing trend in both incidence and mortality, but still has considerable values in Brazil, with younger and male children being more affected. Thus, improvements in disease prevention and control strategies are needed, especially in the most affected regions.

ID: 575

**Area: Inborn errors of metabolism**

**Presentation method: Eletronic Poster**

**Neurological features of late infantile Niemann Pick type C disease: case report**

Lorena Vilela Rezende<fnref n="1" />*, Daniel Almeida do Valle<fnref n="1" />, Mara Lúcia Schmitz Ferreira Santos<fnref n="1" />, Mariah Pereira de Andrade Vallim<fnref n="1" />, Giulia Vilela Silva<fnref n="1" />, Rui Carlos Silva Junior<fnref n="1" />, Lisandra Coneglian de Farias Rigoldi<fnref n="1" />, Andressa Taine Szczypkovski<fnref n="1" />, Michelle da Silva Zeny<fnref n="1" />

**Abstract**

**Case Presentation:** Female child at 2 months of age presented jaundice and transient hepatosplenomegaly. She underwent a liver biopsy with a diagnosis of neonatal hepatitis and an opportunistic cytomegalovirus infection was treated. Up to 2 years she had a normal neuropsychomotor development when she started a regression of the developmental milestone began, associated with progressive axial hypotonia and spastic tetraplegia, loss of speech, swallowing disorder, ptosis, and seizures. Physical examination showed a palpable spleen, vertical gaze supranuclear palsy and hyperreflexia. Abdominal ultrasound presented with homogeneous splenomegaly. Brain MRI had hypomyelinating leukodystrophy and diffuse thinning of the corpus callosum. At 3 years of age the diagnosis was identified 2 heterozygous pathogenic mutations in the gene NPC1 (c.3104C>T;p.A1035V and c.3689del; p.L1230fs). During clinical evolution 5 years, miglustat, levetiracetam and baclofen were started. Was performed gastrostomy and tracheostomy, evolved with refractory epilepsy and several hospitalizations due to infectious complications.

**Discussion:** Niemann Pick type C results from an autosomal recessive genetic alteration caused by pathogenic variants of the NPC1 and NPC2 genes that impair cholesterol transport course with lysosomal storage disorder. Presentations may be classified by age of onset, with overlapping phenotypes. Juvenile is the most common form, with onset in midchildhood after normal early development with ataxia, vertical supranuclear ophthalmoplegia, dystonia, dysarthria, dysphagia, and epilepsy. The late infantile often presents with

<footnote n="1">¹Universidade do Estado do Pará, Belém PA, Brazil.</footnote>

<footnote>*Correspondence: geovannaroccha@outlook.com.</footnote>

<footnote n="1">¹Hospital Pequeno Príncipe, Curitiba PR, Brazil.</footnote>

<footnote>*Correspondence: lorenavilelalvr@gmail.com.</footnote>
hypotonia and developmental delay. With time, vertical supranuclear saccadic palsy becomes apparent.

**Final Comments:** Abnormal NPC1 protein have demonstrated that this protein is indeed a necessary part of intracellular cholesterol trafficking that results in abnormal lipid metabolism, causing large amounts of nonesterified cholesterol and glucoside sphingolipids to deposit in lysosomes and consequent neurodegeneration. Once myelin sheath is the membrane that surrounds the axon of a nerve cell and has a high lipid content, mutations in the NPC1 gene could influence myelin formation. Leukodystrophy is more common in Severe early infantile and neurologic onset form, corroborating the hypothesis of overlap between disease phenotypes. So far there is no cure, only a possibility of stabilizing the neurological condition with Miglustat, a drug that inhibits the synthesis of glycolipids.

ID: 576

**Area: Neonatal neurology**

**Presentation method: Presentation Poster**

**Clinical-electromyographic diagnosis of Dejerine Sottas syndrome in a neonatal ICU: case report**

Lorena Vilela Rezende<fnref n="1" />, Adriana Banzatto Ortega<fnref n="1" />, Mariah Pereira de Andrade Vallim<fnref n="1" />, Giulia Vilela Silva<fnref n="1" />, Rui Carlos Silva Junior<fnref n="1" />, Mônica Alexandra de Conto<fnref n="1" />, Suelen dos Santos Henrique<fnref n="1" />, Elisabete Coelho Auersvald<fnref n="1" />, Daniel Almeida do Valle<fnref n="1" />

**Abstract**

**Case Presentation:** Patient son of consanguineous parents. Pregnancy with severe polyhydramnios. Born at 37 weeks. Required neonatal resuscitation in the delivery room with Apgar 1/4. During ICU stay, hypotonia was observed. On physical examination, the child had arthrogryposis, ophthalmoplegia, bifrontal narrowing, anteverted nostril and pseudomyopathic face. Global hypotonic with reduced distal limb strength. Reflexes preserved, except Achilles and Styloradius reduced by 1+/4. Research of cerebrospinal fluid with albutamin-cytosolic dissociation (leukocytes: 1.6, protein: 501). Expanded infectious investigation with signs of radiculopathy on neuraxial MRI, without positivity in serologies or viral and bacterial PCRs performed. Performed first dose of immunoglobulin without clinical improvement. Negative Anti-GQ-1b research. In parallel, genetic research was started with a panel of neuromuscular diseases, with no identified alterations. Electroneuromyography confirming the alteration pattern of Dejerine Sottas Syndrome. At 6 months, he was readmitted with epilepsy. It has an electroencephalogram with frequent irregular epileptiform discharges of multifocal projection. Where it was necessary to start anti-crisis drugs showing good control with the use of Levetiracetam and Carbamazepine. Genetic testing is ongoing.

**Discussion:** Dejerine-Sottas syndrome is a severe inherited demyelinating neuropathy that presents in early childhood with hypotonia. It may have autosomal dominant or recessive inheritance. The phenotype is characterized by delayed motor development, prominent, distal sensory loss followed by proximal weakness, absent reflexes, ataxia, and profound slowing of nerve conduction velocities to ≤ 10 m/sec.

**Final Comments:** The findings of cauda equina nerve root thickening and cranial nerve thickening identified on neuro-

imaging, as well as protein-cytosolic dissociation, are not pathognomonic for Dejerine-Sottas disease and may be seen in infectious and inflammatory conditions, including Guillain-Barre syndrome. However, the identification of these signs in the neonatal period should indicate the possibility of Dejerine Sottas Syndrome, and it is important to carry out an electroneuromyographic and genetic study.

ID: 577

**Area: Inborn errors of metabolism**

**Presentation method: Presentation Poster**

**To longitudinally monitor a child with glutaric acidemia type 1: a case report**

Lorena Vilela Rezende<fnref n="1" />,<fnref n="2" />,<fnref n="3" />*, Mara Lúcia Schmitz Ferreira Santos<fnref n="1" />,<fnref n="2" />,<fnref n="3" />, Michelle da Silva Zeny<fnref n="1" />,<fnref n="2" />,<fnref n="3" />, Daniel Almeida do Valle<fnref n="1" />,<fnref n="2" />,<fnref n="3" />, Tiago dos Santos Bara<fnref n="1" />,<fnref n="2" />,<fnref n="3" />, Mariah Pereira de Andrade Vallim<fnref n="1" />,<fnref n="2" />,<fnref n="3" />, Rui Carlos Silva Junior<fnref n="1" />,<fnref n="2" />,<fnref n="3" />, Anderson Nitsche<fnref n="1" />,<fnref n="2" />,<fnref n="3" />, Mara Lúcia Cordeiro<fnref n="1" />,<fnref n="2" />,<fnref n="3" />

**Abstract**

**Case Presentation:** This case report describes a genetic disease, Glutaric acidemia type 1, that can cause significant neurological impairment when left untreated. A female child with no previous complications experienced her first epileptic seizure at the age of 2 after receiving the influenza vaccine. After this, she experienced a regression in neuropsychomotor development. Magnetic resonance imaging (MRI) of the brain showed signs of cytotoxic edema, and a suspicion of Inborn Errors of Metabolism (IEM) was raised. Urine organic acid analysis revealed increased levels of 3-hydroxy-glutaric acid. Molecular testing confirmed the diagnosis of glutaric acidemia type 1 (GCDH; c.92+5 G>A in homozygosity). The patient started on a diet with lysine restriction and supplementation with L-Carnitine and Riboflavin. The patient discontinued dietary and medical treatment at the age of 3 but returned for follow-up at the age of 5, with complaints of learning difficulties. On clinical examination, she exhibited athetosis, spasticity, and Babinski extension on the left. MRI showed areas of altered signal in the white matter. Neuro-psychological evaluations performed at age 7 revealed a normal IQ and no impairment in attention or academic performance.

**Discussion:** Glutaric acidemia type 1 (GA1) is an autosomal recessive metabolic disorder that causes an increase in glutaric and 3-hydroxyglutaric acids. MRI typically shows frontotemporal atrophy and hypersignal in the dentate nucleus. Symptoms usually begin at 3 months of age with a progressive increase in head circumference, hypotonia, irritability, and feeding difficulties. Develop encephalopathy, developmental regression, movement disorders, with or without epileptic seizures.

**Final Comments:** In this case report, due to the COVID-19 pandemic, the patient's family was unable to continue her treatment. It would be expected that the patient would exhibit neurological decline after 2 years without treatment, but at age 7, she showed no neurocognitive decline. The principles of treatment aim to restrict lysine and supplement it with carnitine and riboflavin. The need for dietary interventions beyond early childhood is uncertain. Despite early

<footnote n="1">¹Hospital Pequeno Príncipe, Curitiba PR, Brazil.</footnote>

<footnote>*Correspondence: lorenavilelalvr@gmail.com.</footnote>

<footnote n="1">¹Faculdade Pequeno Príncipe, Curitiba PR, Brazil.</footnote>

<footnote n="2">²Hospital Pequeno Príncipe, Curitiba PR, Brazil.</footnote>

<footnote n="3">³Instituto de Pesquisa Pelé Pequeno Príncipe, Curitiba PR, Brazil.</footnote>

<footnote>*Correspondence: lorenavilelalvr@gmail.com.</footnote>
diagnosis and treatment, patients may exhibit reduced fine
motor skills and are at risk of developing speech and language
difficulties. Regardless of IQ scores, executive functioning,
attention, gross motor skills, and visual memory are usually
in the average or above-average range.

ID: 579

Area: Neuromuscular diseases

Presentation method: Presentation
Poster

Fatigue in patients with spinal muscular atrophy types 2 and 3

Ana Carolina Monteiro Lessa de Moura<fnref n="1" />, Clara Catharino Pinhati<fnref n="1" />*, Marina Belisário Carvalhais<fnref n="1" />, Sabrina Stephanie Lana Diniz<fnref n="1" />, Juliana Gurgel-Giannetti<fnref n="1" />

Abstract

**Background:** Fatigue is a frequent disabling primary symptom in Spinal Muscular Atrophy (SMA) patients. It results in low levels of physical activity, significantly impairing patients' quality of life.

**Objective:** To evaluate perceived and physiological fatigue in individuals with SMA type 2 and 3, and to establish its relationship with other important aspects, such as muscle strength, motor and respiratory function.

**Methods:** We evaluated fatigue in children and adults with a confirmed genetic diagnosis for SMA, in a cross-sectional observational study, using the Fatigue Severity Scale (FSS, Portuguese version) and Multidimensional Fatigue Scale (PedsQL MFS, Portuguese version) to assessment of perceived fatigue and repeated nine hole peg test (r9HPT) and Endurance Shuttle Walk Test (ESWT) to assess physiological fatigue. Factors associated with fatigue, including muscle strength, motor function and vital capacity (VC) were also evaluated.

**Results:** In total, 28 participants with SMA types 2 and 3 were included, with a mean age of 20.6 ± 11.8 years. Participants' reports of perceived fatigue through the PedsQL MFS were similar to those of caregivers. Perceived fatigue was similar for SMA type 2 and 3 participants (PedsQL MFS self-report: 75.9; 70.5). Perceived fatigue was common in adult participants with 58.4% reporting abnormal or several fatigue (FSS > 4). Perceived fatigue was not associated with motor function, respiratory function and physiological fatigue. All correlations showed alpha levels of p > 0.05. In the evaluation of physiological fatigue through the r9HPT, it was observed that SMA type 2 participants showed significantly worse performance than participants with type 3. The results of the r9HPT were shown to be correlated with the VC and muscle strength of elbow flexors, with a value of p < 0.05. In ambulatory patients who performed the ESWT, none were able to complete the maximum time of 1200 seconds. The median time the test was interrupted was 186.9 seconds, which represents 16% of the maximum time.

**Conclusion:** Fatigue is a frequent and relevant complaint in SMA patients. The relationship between perceived and physiological fatigue is complex and requires a multifactorial approach that encompasses the various mechanisms involved in fatigue in SMA.

ID: 580

Area: Neuromuscular diseases

Presentation method: Eletronic Poster

Good response to the use of Ataluren in Duchenne muscular dystrophy: case report

Amanda Regina Farias Teixeira<fnref n="1" />*, Maria Lina Giacomino de Almeida Passos e Azevedo<fnref n="1" />, Sofia Russi<fnref n="1" />, Jessica Kayene Souza Ferreira<fnref n="1" />, Fernanda dos Santos Ribeiro<fnref n="1" />, Ana Paula Bastos Nogueira de Luca<fnref n="1" />, Sara Falcão Brasileiro Henriques<fnref n="1" />, Maria Mariana Muniz Jorge de Melo<fnref n="1" />, Flávia Nardes dos Santos<fnref n="1" />

Abstract

**Case Presentation:** Adolescent, male, 12 years old, diagnosed with Duchenne Muscular Dystrophy (DMD), symptoms noticed by the family at the age of four (frequent falls, myopathic rising, pseudo-hypertrophy of calves), diagnosed and started on Ataluren (40mg/kg/day) and other supportive therapies at the age of seven through a clinical trial. The patient exhibited significant delay in disease progression compared to patients who did not receive the medication. Currently, at 12 years old, the patient still maintains ambulation, with no signs of imminent loss of walking ability, with muscle strength equal to or greater than 4/5 in most muscle groups, walking 10m in 14 seconds and running 10m in 8 seconds.

**Discussion:** DMD is a severe neuromuscular disease, inherited in an X-linked recessive manner, affecting 1 in every 3,500 to 5,000 live-born boys. It is characterized by progressive muscle weakness and loss of movement due to the absence of the dystrophin protein and permanent degeneration of muscle fibers. Patients typically experience proximal muscle weakness between the ages of 2 and 5, and there may be delays in neuropsychomotor development, intellectual disability, or associated autism spectrum disorders. In cases of suspected diagnosis, the creatine phosphokinase (CPK) enzyme should be measured, and if it is > 2,000 U/L, a confirmatory genetic test is recommended. Treatment involves the use of corticosteroids, motor and respiratory physiotherapy, medications for cardiac protection, and, in cases where the identified variant is a nonsense mutation causing a stop codon, Ataluren is beneficial. Attention should also be given to the patient's scoliosis, initiation of wheelchair use when walking is lost, and other necessary prophylactic and/or palliative measures.

**Final Comments:** Ataluren is used in the treatment of DMD, administered orally, and it acts on dystrophin protein transcription, reversing the nonsense mutation in the DNA. Ataluren enables ribosomal readthrough of the messenger RNA containing this premature termination codon, resulting in the production of a full-length protein. Research has already confirmed the effectiveness of Ataluren as a disease-modifying medication, delaying disease progression, postponing the loss of walking ability, respiratory weakness, and loss of upper limb movements. In this case, it is observed that the patient maintains preserved walking ability at the age of 12, which is uncommon in patients of this age without specific treatment.

ID: 581

Area: Neonatal neurology

Presentation method: Eletronic Poster

<footnote n="1">¹Universidade Federal de Minas Gerais, Departamento de Neuropediatria, Belo Horizonte MG, Brazil.</footnote>

<footnote>Correspondence: claracpinhati@hotmail.com.</footnote>

<footnote n="1">¹Universidade Federal do Rio de Janeiro, Rio de Janeiro RJ, Brazil.</footnote>

<footnote>Correspondence: afariasteixeira@yahoo.com.br.</footnote>
**Exposure to valproic acid during pregnancy: an important cause of fetal trigonocephaly**

Victor Alves Souza<fnref n="1" />,<fnref n="2" />*, Gabriela Klein Herwig<fnref n="1" />,<fnref n="2" />, Artur Vestena Rossato<fnref n="1" />,<fnref n="2" />, Lara Willers Lobato<fnref n="1" />,<fnref n="2" />, Gabriel de Moraes Deolindo<fnref n="1" />,<fnref n="2" />, Loyângela Lourenço Roman<fnref n="1" />,<fnref n="2" />, Caroline Petigrosso dos Santos<fnref n="1" />,<fnref n="2" />, Rafael Fabiano Machado Rosa<fnref n="1" />,<fnref n="2" />, Paulo Ricardo Gazzola Zen<fnref n="1" />,<fnref n="2" />

**Abstract**

**Case Presentation:** The patient is the third child of a mother with the diagnosis of epilepsy. Who used, during pregnancy, valproic acid until the third month and phenobarbital from there forward. The mother referred to having frequent convulsions during the first three months of pregnancy. The baby was born through vaginal delivery, premature of 35 weeks, weighting 2450 grams, and with Apgar score of 8/9. It presented cardiac insufficiency after birth. The echocardiography identified a broad perimembranous interventricular communication (IVC) of the outflow tract, discrete peripheral pulmonary stenosis, and superior left vena cava draining to the coronary sinus. In the evaluation, were also evidenced: growth retardation, sagittal keel, bilateral epicanthal folds, bilateral tear duct obstruction, well-marked infraorbital fold, anteverted nostrils, long nasal philtrum, thin upper lip, retroverted and low set ears, and right accessory nipple. The cranium computerized tomography confirmed the diagnosis of trigonocephaly. The karyotype was normal. The child was submitted to a surgical correction of the IVC at 8 months old.

**Discussion:** Valproic acid is a medication frequently used in epilepsy treatment. It is the anticonvulsant that presents a higher association with major malformations in the fetus, including trigonocephaly. All the findings presented, together, constitute the fetal valproate syndrome.

**Final Comments:** The history of exposure to valproic acid during pregnancy should be remembered in the evaluation of children with trigonocephaly. It represents an important and frequent cause of this type of craniostenosis.

ID: 582

**Area: Neuropsychiatric disorders and learning disorders**

**Presentation method: Presentation Poster**

**Mild autism with special skills and non-autistic gifted children with low social skills: differential diagnosis**

Helena Lamonica Monnerat de Carvalho<fnref n="1" />, Clara Gruber Telles<fnref n="2" />, Carla Gruber Gikovate<fnref n="1" />

**Abstract**

**Background:** Considering the increased demand for mild autism diagnosis it is very important to understand the subtle clinical conditions, where the borders are not well delimited. In this context, establishing the differential diagnosis between autism spectrum disorder (ASD) and children with high cognitive abilities (special gifted) with impairment in social skills is crucial. These conditions have significant

overlap since it is estimated that 10% of children in the autism spectrum have some type of special skill or savant characteristic (Rimland, 1988) and, in general, children with high cognitive abilities are also more likely to present social difficulties (Hoogeveen, 2008). Therefore, it is urgent that we understand how to distinguish autistic high functioning children from neurotypicals with high IQ, in order to promote better development and adequate stimulation.

**Objective:** To discuss the differential diagnosis between children with mild autism and special skills from non-autistic gifted children (with high IQ) with low social skills.

**Methods:** A search was performed in March 2023 on PubMed with the keyword combinations: Autism AND high abilities; Autism AND gifted; Autism AND prodigy; Autism AND savant.

**Results:** Data synthesis: 223 articles were found, and, after reading, only 7 of those were focused on the differential diagnosis between ASD and gifted children. From the review articles, data were found that points to different causes behind social difficulties in both groups: while children with autism present difficulties in understanding facial expressions and reading social situations, gifted children that don't have autism tend to look for symmetrical social relationships, with people that have similar cognitive ability and interests, which is not frequently found among pairs of the same age. Another relevant aspect for the differential diagnosis between the groups is the linguistic ability, especially pragmatics, which is revealed to be compromised in the autism group, but not in the high abilities group.

**Conclusion:** It is essential to evaluate the ability to read social situations and the competence in social use of language (pragmatics) in order to achieve a more precise differential diagnosis between children with mild autism and non-autistic gifted children with low social skills. Although both groups may present social difficulties, the causes are very distinct, as well as the interventions to be made.

ID: 583

**Area: Cerebrovascular diseases and in- tensive care in child neurology**

**Presentation method: Presentation Poster**

**Post-varicella arterial ischemic stroke in children: a case report**

Anna Jamylle Dias Borges Leal<fnref n="1" />*, Rebeca Montalverne Barreto de Paula Pessoa<fnref n="1" />, Kathiane Moreira de Freitas Martins<fnref n="1" />, Gabrielle Gomes de Sousa<fnref n="1" />, Fernanda Paiva Pereira Honório<fnref n="1" />

**Abstract**

**Case Presentation:** Male patient, one year and eight months old, healthy, with a history of varicella disease within 12 months, was admitted at the hospital on 08/29/2022 with abrupt left hemiparesis. It was solicited for a head computed tomography (CT), with a result showing a subacute ischemic event. The patient presented incomplete disproportionated hemiparesis with predominant left brachial deficit, altered gait, prominent reflexes and muscle strength grade 3 in proximal left hand. It was then started therapy with Acyclovir. A panel for meningitis and encephalitis was made, with negative results. Anticorps Anti-Herpes simplex virus was negative on blood and on liquor. However, the patient showed anticorps IGG anti-varicella positive with high levels in blood.

<footnote n="1">¹Santa Casa de Misericórdia de Porto Alegre, Porto Alegre RS, Brazil.</footnote>

<footnote n="2">²Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre RS, Brazil.</footnote>

<footnote>*Correspondence: victoralves15@outlook.com.br.</footnote>

<footnote n="1">¹Faculdade de Medicina de Petrópolis, Petrópolis RJ, Brazil.</footnote>

<footnote n="2">²Centro Universitário Arthur Sá Earp Neto, Petrópolis RJ, Brazil.</footnote>

<footnote>*Correspondence: gikovate@hotmail.com.</footnote>

<footnote n="1">¹Universidade Federal do Ceará, Complexo Hospitalar, Fortaleza CE, Brazil.</footnote>

<footnote>*Correspondence: jamylle_dias@hotmail.com.</footnote>
The patient was submitted to magnetic resonance imaging of the brain on 09/21/2022, that showed diffuse tapering and contour irregularity with luminal stenosis compromising the supraclinoid and communicant segments of right internal carotid artery, suggesting focal cerebral arteriopathy of childhood as etiology. The image showed subacute ischemic areas on the right middle cerebral artery. The pediatricians decided to start pulse corticosteroid therapy and Aspirin. The baby showed a slight improvement of gait. On 11/17/2022 was submitted to a new magnetic resonance Imaging, that showed a chronicity status of the lesions.

**Discussion:** It is fundamental to consider post-infectious arteriopathy as an etiology of ischemic stroke in the pediatric population. Many pathogens could be associated, but the Varicella-zoster should be considered as an important etiology, because this virus could remain latent in nerve roots for months after the acute infection. The post-varicella arteriopathy may compromise the middle cerebral artery or the internal carotid artery territory, manifesting as an arterial ischemic stroke.

**Final Comments:** Varicella is a prevalent viral infection in childhood and the varicella-zoster virus remains latent in nerve roots. Considering this and that focal arteriopathy may occur up to one year after the primo infection, we consider this case as relevant.

ID: 584

Area: Neurogenetics

Presentation method: Eletronic Poster

**Case report of a new variant and literature review of FOXG1-related syndrome: atypical Rett syndrome or a different entity?**

Eduardo Ferraz Troijo¹*, Loiane Dante Correia Rocha¹, Pedro Zambusi Naufel¹, Manoel Jacinto de Abreu Neto¹, Raquel Monico Cavedo¹, Rafael Guerra Cintra¹, Paulo Breinis¹, Laura Maria Viscardi Brighenti¹

¹Santa Casa de Misericórdia de São Paulo, Bauru SP, Brazil.

*Correspondence: eduardotroijo@hotmail.com.

**Abstract**

**Case Presentation:** A 13-month-old boy was evaluated at our institution for developmental delay. He was born to non-consanguineous parents as the first child. Birth weight was 3360g, length was 49 cm and head circumference 32.5 cm. Developmental delay were noticed at 6 months of age. He started to sit without support at 10 months. He couldn't crawl and was non-verbal. He has exotropia of the left eye and chronic constipation. There is no history of regression, epilepsy or loss of social interaction. The family history is unremarkable. In his segment, head circumference stagnation was noticed at 43 cm and at 19 months the patient had dyskinesia. MRI with delayed myelination of frontal lobe and corpus callosum. A next generation sequencing (NGS) panel detect a new variant caused by a deletion on FOXG1: chr14:28.768.689 ACTGT>A.

**Discussion:** The first case of FOXG1 mutation was reported in 2005, with some other reports appearing later. These patients were initially described as having the congenital variant of Rett syndrome. Currently, these individuals are considered to belong to a distinct entity called "FOXG1-related encephalopathy", mainly due to the lack of regression observed in Rett syndrome. Other symptoms of FOXG1 are lack of eye contact, ocular abnormalities, epilepsy, developmental delay, microcephaly, telencephalon malformations, gastrointestinal

symptoms (reflux or constipation), dyskinesia, stereotypies (hand wringing is rare, unlike in Rett syndrome) and sleep disturbances. Our patient had severe microcephaly and developmental delay, but the other symptoms were much more subtle. This patient is progressively making developmental gains and doing well, this clearly exposes the differences between Rett syndrome and the FOXG1 gene. On the other hand, there are case reports of FOXG1 showing different clinical features for different types of mutations or for different sites of mutations. For example, FOXG1 duplications usually cause early epilepsy, whereas intragenic mutations cause late epilepsy after 2 or 3 years of age. In the reported case, the FOXG1 mutation is a deletion in the C-terminal region and is associated with milder phenotypes, which perhaps explains the few changes on MRI, the patient's mild clinical picture and the absence of epilepsy so far.

**Final Comments:** This report seeks to describe a new genetic variant, expanding the description of FOXG1-related encephalopathy and reinforcing the tendency to define it as a specific disease.

ID: 585

Area: Epilepsies

Presentation method: Eletronic Poster

**Epilepsy and treatment challenges in children**

Clara Azevedo, Amandha Espavier Trés, Willa Daniela Souza Pereira Meireles

*Correspondence: clara-azevedo@outlook.com.

**Abstract**

**Background:** Epilepsy is characterized as a brain dysfunction with a predisposition to cause epileptic seizures. Most cases arise in childhood, and it is a challenge to achieve the best treatment for each child.

**Objective:** To analyze the proposed treatments for epilepsy in children in order to indicate the most likely to increase their quality of life.

**Methods:** This is a review of literature and articles from the Scielo and PubMed platforms, with descriptors "Epilepsy"; "Child"; "Treatment" connected by "and". They were selected by reading, with inclusion and exclusion criteria, excluding the repeated and unavailable ones, including works from the last 7 years, totaling 6 references.

**Results:** Treatments vary depending on the type of epilepsy of each child and the time of diagnosis. Treatment with antiepileptic drugs reduces recurrence in the first two years after the first seizure, however, the impasse is that in the long term it does not reduce the risk of epilepsy. In addition, the ketogenic diet proved to be beneficial for the prevention of epileptic events, as it reduces neuronal excitability, which improves the control of cirrhosis. In addition, surgical treatment can reduce the recurrence of seizures, with a better prognosis in children diagnosed less than 2 years ago.

**Conclusion:** Thus, the treatment of epilepsy in children is still full of challenges, since it must be based on a holistic approach, also considering its associated comorbidities. The ideal is to include a multidisciplinary team to control crises and ensure a better quality of life.
ID: 586

# Area: Neuroimmunology, multiple sclerosis and other demyelinating diseases

## Presentation method: Eletronic Poster

### Neuromyelitis optica in childhood: a case report

Francine de Paula Roberto Domingos<fnref n="1" />*, Rafael de Almeida<fnref n="1" />, Sayuri Aparecida Hirayama<fnref n="1" />, Lorena Dias Araujo<fnref n="1" />, Gustavo Carvalho Costa<fnref n="1" />

*Correspondence: francineneuro@gmail.com.

### Abstract

**Case Presentation:** F.A., 12 years old, female, started with asymmetrical ascending flaccid paraparesis, global arreflexia, ataxia, dysphagia and dysarthria 20 days after Pfizer vaccination for SARS-COV-2. On admission, after 2 months, was suggested acute polyradiculoneuritis hypothesis and immunoglobulin was administered without improvement of the symptoms. However, the patient evolved with signs of pyramidal release and methylprednisolone was administered with a good outcome. CSF: cytology: 0/mm³, glucose: 59/mm³, protein: 34/mm³. Electroneuromyography (ENMG): upper and lower limbs show signs of polyradiculoneuritis in the hyperacute phase, the nature cannot be classified as myelin or axonal; Cranial resonance Magnetic Imaging (MRI): signal alteration compromising supra and infratentorial structures, T2/FLAIR symmetrical hypersignal in the bulbopontine transition suspicious for a demyelinating process. Cervical/ thoracic spine MRI: no abnormalities. Anti AQP-4 IgG: reagent.

**Discussion:** Neuromyelitis optica (NMO) is a relatively rare inflammatory disease that primarily affects the spinal cord and optic nerves. Clinical features are frequently more diverse than just optic neuritis and transverse myelitis in children what makes the diagnosis challenging. The case series of pediatric NMO have shown a female preponderance and almost all NMO-IgG positive, which had relapsing course predicted by seropositivity. The median age of children diagnosed with NMO ranges from 10 to 14 years. Coexisting autoimmune disorders were reported in 42%. Longer term immunotherapy reduces the chance of further potentially disabling attacks.

**Final Comments:** Diagnosis of NMO is not easy, especially when patients are children. This case report intends to bring to discussion this condition once the disease is potentially severe - risk of irreversible focal neurological deficits - and need to be early diagnosed to promote better therapeutic strategies and prognosis.

ID: 587

# Area: Neuromuscular diseases

## Presentation method: Presentation Poster

### ACTN2 mutation in a patient with Charcot-Marie-Tooth disease and myopathy

Francine de Paula Roberto Domingos<fnref n="1" />*, Sayuri Aparecida Hirayama<fnref n="1" />, Rafael de Almeida<fnref n="1" />, Gustavo Carvalho Costa<fnref n="1" />

*Correspondence: francineneuro@gmail.com.

### Abstract

**Case Presentation:** R.V.M., 14 years old, male, reports that since early childhood there was a difficulty to walk because of non-progressive low strength in the lower limbs. The patient had a normal cognitive development, but he had his first steps, with support, at the age of 3 years old and without support at the age of 4 years old. He had non consanguineous parents and two members of the family had the same kind of symptoms - maternal aunt and uncle. In the neurological exam there was cavus foot, shoulder and pelvic girdle muscle weakness (MRC grade 3), distal weakness of lower and upper limbs (MRC grade 4), no sensitivity alterations, normal reflexes and cranial nerves evaluation. Electroneuromyography (ENMG) showed chronic sensorimotor polyneuropathy signs compatible with Charcot-Marie-Tooth (CMT) disease. There was also a genetic test which identified heterozygous autosomal dominant ACTN2 gene mutation; there were no other gene mutations identified.

**Discussion:** ACTN2 gene codes alpha-actinin-2 which is expressed in both skeletal and cardiac muscle. Genetic variants in ACTN2 are associated in the heterozygous state with common inherited cardiac diseases; this mutation is a rare condition, mainly when associated to congenital myopathy. This case report intends to describe a rare mutation in a patient which did not manifestated cardiomyopathy but had a history and neurological exam compatible with a myopathy besides an ENMG compatible with a genetic sensorimotor polyneuropathy as CMT. It is important to spread information about these genetic conditions and their phenotypes to make the diagnosis easier and also to stimulate therapeutic strategies.

**Final Comments:** ACTN2 genetic mutation is a rare condition that can be associated with cardiomyopathy, congenital myopathy and even polyneuropathy conditions. It is important that neurologists are able to suspect and recognize and disclose this mutation so more research can be stimulated to find therapeutic methods.

ID: 588

# Area: Malformations of the central nervous system

## Presentation method: Presentation Poster

### Gomez Lopez Hernadez syndrome: case report

Nicholas dos Santos Barros<fnref n="1" />*, Fernando Kok<fnref n="1" />, Clarissa Bueno<fnref n="1" />, Maria Luiza Giraldez de Manreza<fnref n="1" />, Marco Antônio Veloso de Albuquerque<fnref n="1" />, Clarice Semião Coimbra<fnref n="1" />, Roberta Diniz de Almeida<fnref n="1" />, Rafaela Fernandes Dantas<fnref n="1" />, Ana Cristina Azevedo Leão<fnref n="1" />

*Correspondence: nicksantosb@gmail.com.

### Abstract

**Case Presentation:** Female patient, 8 years old, with a previous context of hypotonic infant syndrome, repetitive head nodding movements, convergent strabismus, alopecia, low implantation of the ears and short stature. On evaluation, she was alert, without language alterations, low threshold for fructation, difficulty concentrating, hyperactivity, but without evidence of intellectual disability. Alopecia on the left forehead, low ear implantation, global grade 5 muscle strength, normoactive osteotendinous reflexes, no clonus,

<footnote n="1">¹Hospital Municipal Dr José de Carvalho Florence, São José dos Campos SP, Brazil.</footnote>

<footnote n="1">¹Hospital Municipal Dr José de Carvalho Florence, São José dos Campos SP, Brazil.</footnote>

<footnote n="1">¹Universidade de São Paulo, Faculdade de Medicina, Hospital das Clínicas, São Paulo SP, Brazil.</footnote>
no fasciculations, adequate tone and trophism. Abnormal "no-no" head movements, with inhibition by eye fixation for up to two seconds, mild dysmetria and intention tremor. Broad-based gait, imbalance and fall without a preferred side to the tandem, with trunk instability. She assumed the nine gaze positions without diplopia, had limited saccades with cervical correction. Hypoesthesia on the left face, absent left palpebral corneal reflex, with balaclava pattern, normal jaw movement. Cranial MRI showed partial rhomboencephalosynapse and hypoplasia of the left trigeminal nerve.

**Discussion:** The clinical picture allowed the clinical diagnosis of Gomez Lopez Hernadez syndrome, also known as Cerebelotrigeminal Dermal Dysplasia, characterized by the triad rhombencephalosynapse, trigeminal anesthesia and alopecia, in addition to other heterogeneous clinical features that vary from case to case, such as midface hypoplasia, turricephaly, prognathism, hypertelorism, low implantation of the ears, short stature, corneal opacity, ataxia, intellectual disability and delayed neuropsychomotor development. The pathophysiology involved is still not fully understood, the most accepted theory is the failure of migration of ectoderm cells around the 4th month of gestation, with no confirmed evidence of genetic influence. Differential diagnosis must be considered between CEBALID (autosomal dominant mutation in the MN1 protooncogene) and VACTERL syndromes. Treatment involves a multidisciplinary team for rehabilitation, important to emphasize the risk of corneal injuries.

**Final Comments:** In conclusion, despite being rare, the condition described must be known and differentiated from the others, to ensure correct management and better quality of life for patients.

ID: 591

## Area: Neuroimmunology, multiple sclerosis and other demyelinating diseases

### Presentation method: Presentation Poster

#### Pediatric multiple sclerosis: challenges in diagnosis and pharmacologic therapeutics

Ludimila Marins Moura<fnref n="1" />, Tiago Dazzi Rigoni<fnref n="1" />, Tania Regina Saad Salles<fnref n="1" />, Julia Rossi Bazzanella<fnref n="1" />, Carollyne Bessa Chacar<fnref n="1" />, Aline Fonseca Lima<fnref n="1" />, Sicilia da Rocha Colli<fnref n="1" />, Bruna Torres Fonseca<fnref n="1" />, Alessandra Augusta Penna e Costa<fnref n="1" />*

### Abstract

**Case Presentation:** AL, 9 years old, female, black, from RJ, hypothesis of stroke in childhood manifested by acute left faciobrachiocrural hemiparesis with spontaneous remission in 05/2014. The clinical evolution, brain and neuroaxis MRI led to the differential diagnosis of Multiple Sclerosis in its relapsing-remitting form due to the appearance of new lesions on MRI in 05/2016, according to MC Donald's criteria of dissemination in time and space, EDSS=1.5. Treatment with Interferon β, first-line medication in childhood, was started until 07/2017. Through a new MRI, therapeutic failure was characterized, opting for Glatiramer Acetate until 06/2018. After menarche, optic neuritis was diagnosed (EDSS 3) and MRI with increased lesion burden, lead to indication of

Natalizumab. However, it was not feasible by the Brazilian guideline for MS treatment at the time, due to the age range. Fingolimod also did not meet the guideline criteria, but it was possible only by donations. Since then, adequate cognitive and motor development was achieved with EDSS=1.5. In 2019, Natalizumab was released in the new Brazilian MS guideline treatment.

**Discussion:** The early diagnosis and the knowledge of the different clinical presentations in children are ways to optimize differential diagnosis and clinical management in order to improve the quality of life of the future adult. To this end, access to MRI favors this study is not always feasible in the Brazilian health public system services. Since repeated exposure to gadolinium may generate future burdens, one should consider replacing it with Evoked Potentials for follow-up. Finally, the creation of reference centers to assist the pediatric population may favor the systematization of scientific information and the development of protocols aimed at more assertive assistance based on clinical experience, contributing to multicenter research.

**Final Comments:** For pediatric MS, the need for early and scientific broad differential diagnosis and precise nosological definition is essential, even if it takes time. Access to tests such as MRI under sedation and follow-up in outpatient clinics specialized in MS are necessary, although costly and scarce. In addition, the pediatric therapeutic options are restricted by the Brazilian MS guideline due to the lack of scientific validation that proves the effectiveness of drugs and the absence of side effects in this population.

ID: 592

## Area: Neurogenetics

### Presentation method: Eletronic Poster

#### Case report: diagnostic challenges of Tay-Sachs disease

Anita Dias Guimarães<fnref n="1" />, Maria Regina Marques Magalhães<fnref n="1" />, Ana Lucia Dias Guimarães

### Abstract

**Case Presentation:** A.A.M.S, female, was born on 12/05/2017 in interior of Rio de Janeiro, diagnosed at age 4 with Tay-Sachs Disease (TSD). She began follow-up at the neuropediatrics service in Rio das Ostras, due to a complaint of behavior regression by family members at 1 year and 5 months, including social introspection, stereotypies, speech interruption, in addition to swallowing disorders, gait changes and an episode of generalized tonic-clonic seizure. The patient was born at 37 weeks and 6 days of gestational age with cesarean delivery. Mother without comorbidities with uneventful prenatal care. The patient was hospitalized with 15 days of life due to Upper Airway Infection. A.A.M.S was initially diagnosed with Autistic Spectrum Disorder (ASD) at the age of 2, with Brainstem Audiometry and imaging tests initially unchanged. She was referred to the genetics service in Rio de Janeiro, the karyotype and CGH-array were requested, with normal results. The exome sequence was subsequently ordered and confirmed the presence in homozygosis of the variant NM_000520.6(Hexosaminidase): c.533G>A;p.(Arg178His), related to TSD variant B1.

**Discussion:** Tay-Sachs is a hereditary autosomal recessive and progressive disease. In most cases it has no manifestations at

<footnote n="1">¹Fundação Oswaldo Cruz, Instituto Fernandes Figueira, Rio de Janeiro RJ, Brazil.</footnote>

<footnote>*Correspondence: aapennaecosta@gmail.com.</footnote>

<footnote n="1">¹Universidade do Grande Rio, Duque de Caxias RJ, Brazil.</footnote>

<footnote n="2">²Faculdade de Medicina de Campos, Campos dos Goytacazes RJ, Brazil.</footnote>

<footnote>TT'Correspondence: anitaguimaraes482@gmail.com.</footnote>
birth, it presents adult, juvenile and infantile forms, whose initial symptoms appear at 3 to 6 months and may present with myoclonus or loss of motor function at 10 months with loss of contact eyesight, irritability, and apathy. It is caused by mutation in the alpha subunit of the gene HEXA, identified on chromosome 15q23-q244, which generates a lysosomal accumulation of ganglioside GM2 in neuronal cells. The diagnosis can be suspected through amniocentesis or chorionic villus sampling and confirmed by molecular tests. Its differential diagnosis is ASD in the initial manifestations. Treatment of TSD consists of supporting clinical manifestations and managing intercurrences and infectious diseases with proper maintenance of nutrition, in addition to seizure control and multidisciplinary follow-up. Patients with infantile form usually die by the age of 4 to 5 years. Death usually results from recurrent infections.

**Final Comments:** The present case emphasizes the discussion of the diagnostic difficulty of a rare, serious, and hereditary disease due to the technology used for its discovery being available only in large centers, in addition to the nonspecific initial manifestations corroborating the lack of suspicion of the disease.

ID: 594

## Area: Malformations of the central nervous system

### Presentation method: Eletronic Poster

#### Hemimegalencephaly as differential diagnosis of Rasmussen encephalitis

Carollyne Bessa Chacar<fnref n="1" />, Lara Brandão<fnref n="1" />, Sicilia da Rocha Colli<fnref n="1" />, Aline Fonseca Lima<fnref n="1" />, Tania Regina Saad Salles<fnref n="1" />, Tiago Dazzi Rigoni<fnref n="1" />, Ludimila Marins Moura<fnref n="1" />, Bruna Torres Fonseca<fnref n="1" />, Alessandra Augusta Penna e Costa<fnref n="1" />

*Correspondence: aapennaecosta@gmail.com.

#### Abstract

**Case Presentation:** KV, female, 5 years old, born in good vital conditions, presented about 4 generalized tonic-clonic seizures (GTC) per day after her 1st year of life and progressive global delay of neuropsychomotor development, especially in regard to her language. As she initially presented multifocal spikes on electroencephalogram (EEG). Phenobarbital and sodium valproate were prescribed but both with no response and with side effects. Valproic acid was changed later to Levetiracetam. KV evolved with progressive left hemiparesis, maintaining her language delay, besides periods of good and bad control of the seizures. Currently at 8 years old, she is on Phenobarbital, Clobazam, and Levetiracetam with partial control of the epilepsy and relative autonomy for daily life activity. EEG on 09/2021 with marked signs of dysfunction located in the right hemisphere. Brain Magnetic Resonance Imaging (MRI) performed on 01/2023 showed hemimegalencephaly of the right hemisphere and thinning of the corpus callosum with altered pattern of sulcus and gyration, and diffuse cortical thickening, especially in the frontal, parietal and temporal regions, with polymicrogyria, findings consistent with a diagnosis of Hemimegalencephaly (HME). The investigation will be complemented with exome sequencing.

**Discussion:** The HME is a rare congenital brain malformation characterized by hamartomatous overgrowth of a cerebral hemisphere. It occurs in isolation or as part of Hypomelanosis of Ito, Tuberous Sclerosis, Epidermal Nevus Syndrome or

Klippel-Trenaunay Syndrome. It has a prevalence of 1 to 3 cases per 1,000 epileptic children, occurring in up to 14% of cortical developmental abnormalities. Clinically, HME is manifested by the triad composed of refractory epilepsy, cognitive decline, and progressive contralateral hemiparesis. Therefore, the possibility of Rasmussen's Encephalitis diagnosis was raised during the investigation.

**Final Comments:** Both diagnoses are based on clinical and imaging findings. The definitive diagnosis was only possible through MRI, a highly complex exam that is difficult to perform in the public health system. HME shows neither familial component nor gender preference. Somatic genetic variants in the PI3K-Akt-mTOR signaling pathway, such as AKT3, PIK3CA, MTOR and TSC2, have been reported.

ID: 598

## Area: Neonatal neurology

### Presentation method: Presentation Poster

#### Extrapyramidal syndrome in a newborn exposed to quetiapine in utero

Gabriel De Lellis Neto<fnref n="1" />*, Michele Michelin Becker<fnref n="1" />, Andrea Lucia Corso<fnref n="1" />, Aline da Costa Lourenço<fnref n="1" />, Danielle Dutra Araújo<fnref n="1" />, Hugo Leonardo Justo Horácio<fnref n="1" />, Olivia Sorato Bezerra<fnref n="1" />, Renata Yasmin Cardoso Sousa<fnref n="1" />, Josemar Marchezan<fnref n="1" />

*Correspondence: gabrieldln@hotmail.com.

#### Abstract

The use of atypical antipsychotics is increasingly common, including in the population of childbearing age. In this study, the authors intend to report changes in the neurological examination of newborns exposed to quetiapine in utero.

**Case Presentation:** A full-term male patient presented with sensory decrease and hypotonia at birth, requiring neonatal resuscitation maneuvers. Mother had a complete prenatal care, negative STORCHZ serology and no reports of intercurrences during pregnancy, except for a depressive episode treated with quetiapine, 300mg/day, throughout pregnancy. The patient was born with an Apgar score of 1/3/6, cord blood gas analysis within the normal range. Shortly after birth, he evolved with the need for admission to the neonatal ICU and subsequent orotracheal intubation due to sensory decrease. He remained hemodynamically stable, without the need for vasoactive drugs. The neurological examination showed extrapyramidal signs, such as plastic hypertonia, cogwheel rigidity and trismus. Cerebrospinal fluid was collected, and a tomography of the skull was performed, both normal. EEG presented with focal alterations in the right temporal region. He did not present seizures. The patient evolved with improvement of extrapyramidal symptoms from the fourth day of life, but these remained until the seventh day. Cranial magnetic resonance imaging showed no alterations. He was discharged from the hospital with 14 days of life, asymptomatic.

**Discussion:** The use of atypical antipsychotics by pregnant women may increase the risk of respiratory dysfunction, extrapyramidal syndrome and withdrawal syndrome in the newborn. Symptoms in the newborn may include agitation, eating disorder, hypotonia or hypotonia, respiratory distress, drowsiness, and tremor, and these effects may be self-limiting or require hospitalization. Evidence regarding fetal risk is limited and, so far, it is not possible to state whether maternal

<footnote n="1">¹Fundação Oswaldo Cruz, Instituto Fernandes Figueira, Rio de Janeiro RJ, Brazil.</footnote>

<footnote n="1">¹Hospital de Clínicas de Porto Alegre, Porto Alegre RS, Brazil.</footnote>
use of antipsychotics increases the risk of fetal malformations. There is no description of the duration of neurological symptoms secondary to the use of maternal quetiapine in newborns.

**Final Comments:** More studies are needed on the maternal use of atypical antipsychotics and its effect in fetuses and newborns, since the available studies are still unable to define the safety of using these medications during pregnancy. Treatment and choice of medication should be individualized, weighing the maternal-fetal risk-benefit.

ID: 599

Area: Neoplasms

Presentation method: Presentation
Poster

Frequency and factors associated with the duration of
treatment for malignant neoplasm of the brain in children
in Brazil between 2021 and 2022

Laura Lino Gonçalves<fnref n="1" />,<fnref n="2" />*, Lucas Alencar Queiroz<fnref n="1" />,<fnref n="2" />, Isadora Rocha Rosa<fnref n="1" />,<fnref n="2" />, Sofia Lorenzoni Vale<fnref n="1" />,<fnref n="2" />, Luan Nascimento Pereira de Amorim<fnref n="1" />,<fnref n="2" />, Hemengella Karyne Alves<fnref n="1" />,<fnref n="2" />, Edynando Di Tomaso Santos Pereira<fnref n="1" />,<fnref n="2" />, Rodrigo Hideki Sousa Omoto<fnref n="1" />,<fnref n="2" />, Milton Cesar Vasconcelos Machado Junior<fnref n="1" />,<fnref n="2" />

Abstract

**Background:** Malignant neoplasm of the brain is categorized as a brain tumor, in which there is an abnormal proliferation of cells in the nervous tissue. In Brazil, according to Law No. 12,732/2012, every patient with malignant neoplasm is entitled to the first treatment in the Unified Health System within 60 days, counted from the day the diagnosis is made in the pathological report.

**Objective:** To analyze the frequency and factors associated with the time for the treatment of malignant neoplasms of the brain in children aged 0 to 12 years, between 2021 and 2022.

**Methods:** Observational, cross-sectional, descriptive, and qualitative study, evaluated secondary data available in the Panel-Oncology, considering the variables: macro-region, federal diagnostic unit, the federative unit of treatment, sex, age, and therapeutic modality. The time elapsed between the diagnosis and the beginning of cancer treatment was weighted. ≤ 60 days was considered an adequate time and > 60 days as delayed and inadequate. The Grubbs statistical test was used for data comparison and analysis.

**Results:** 825 cases of neoplasia were identified. A total of 619 cases were included, as 206 (25%) had no information about the duration of treatment. The Southeast was the macro-region with the highest number of diagnoses (46.5%), with São Paulo being the federative unit with the highest number of cases. Analyzing the gender variable, there were 325 (52.5%) male patients and 294 (47.5%) female patients. Regarding treatment time, 92 (14.9%) cases were delayed in starting treatment, with the Southeast as the macro-region with the highest proportion of delays. Considering the therapeutic modality, surgery was the most chosen option, with 272 cases (44%), however, concerning treatment time, radiotherapy - with 160 (26%) - was the modality with the most delays. When using the G test to compare therapeutic modalities and treatment time, p<0.0001 was obtained. Com-

paring gender and treatment time, p=0.4022 was reached. Regarding age and treatment time, p=0.6336 was obtained. There was a significant number of cases without information about the treatment.

**Conclusion:** Among those included, there was a significant delay in starting treatment. Regarding sex, age, and treatment time, the differences were not significant. Regarding the macro-region, there was a predominance of the Southeast, probably due to the demographic density.

ID: 601

Area: Neurogenetics

Presentation method: Eletronic Poster

Life-threatening metabolic crises in early childhood: a rare case report

Bruna Torres Homem Fonseca<fnref n="1" />*, Aline Fonseca Lima<fnref n="1" />, Tiago Dazzi Rigoni<fnref n="1" />, Marcela Rodriguez de Freitas<fnref n="1" />, Fernanda Veiga de Góes<fnref n="1" />, Carollyne Bessa Guedes Chacar<fnref n="1" />, Sicilia da Rocha Colli<fnref n="1" />, Ludimila Marins de Almeida Moura<fnref n="1" />, Tainá Maia Cardoso<fnref n="1" />

¹Fundação Oswaldo Cruz, Instituto Fernandes Figueira, Rio de Janeiro
RJ, Brazil.

Abstract

**Case Presentation:** V.O., female, 4 months old, admitted with chronic malnutrition, anemia, edema, hypoalbuminemia and anuria. Presented with great irritability, decreased level of consciousness and seizures. Developed multiple organ dysfunction, including renal (anuria), hepatic (hepatomegaly, steatosis, enzymatic alteration), hematologic (blood dyscrasia), cardiac (severe cardiac dysfunction), neurologic (coma, seizures), and metabolic (metabolic acidosis, hyperlactatemia, hyperammonemia) impairments. Research for congenital/acquired infections, immunodeficiencies and screening for inborn errors were performed, revealing elevated serum ammonia. Expanded investigation with molecular panel of treatable diseases revealed the presence of two variants of uncertain significance in heterozygosity in the CA5A gene, responsible for encoding the 5A carbonic anhydrase.

**Discussion:** The carbonic anhydrase VA (CA-VA) is responsible for the generation of bicarbonate that will be available as a substrate for the urea and Krebs cycles. CA-VA deficiency is a newly described disease of early onset and should be suspected in newborns or infants with hyperammonemic metabolic encephalopathy, lethargy, diet intolerance, weight loss, tachypnea, seizures and coma. Patients usually present with normal neuropsychomotor development, with an initial metabolic crisis and subsequent stability. In acute metabolic decompensations, laboratory findings include elevated plasma ammonia, lactate, and ketones, combined with hypoglycemia in some cases. Theoretically, neonatal screening by tandem mass spectrometry may detect these changes, however the increase in these metabolites can be subtle, compared to primary enzyme defects, and present only in acute metabolic decompensation, making a false negative result. Definitive diagnosis is determined by the identification of pathogenic biallelic variants in the CA5A gene.

**Final Comments:** CA-VA deficiency should be considered in cases of encephalopathy with hyperammonemia and early onset hyperlactatemia, as a differential diagnosis from urea cycle defects, organic aciduria and pyruvate carboxylase deficiency. The dosage of biochemical markers may present limitations, and therefore molecular analysis of the gene should be considered in patients with suggestive clinical

<footnote n="1">¹Liga Académica de Neurologia e Neurocirurgia do Estado do Pará, Belém PA, Brazil.</footnote>

<footnote n="2">²Universidade do Estado do Pará, Belém PA, Brazil.</footnote>

<footnote>*Correspondence: lauralinog@gmail.com.</footnote>

<footnote>*Correspondence: brunathfonseca@gmail.com.</footnote>
and biochemical findings, since the disease may be consid-
ered a partially treatable inborn error

ID: 602

Area: Movement disorders

Presentation method: Eletronic Poster

ATP1A3-related disorders: case series from a referral center
in São Paulo, Brazil

Mayara Tiemi Ayres Sakuma<fnref n="1" />, Andreia Braga Mota Azzoni<fnref n="1" />,
Claudio Melo de Gusmão<fnref n="1" />

*Correspondence: mayara.neuropediatria@gmail.com.

Abstract

**Case Presentation:** Case 1 A girl with a history of refractory seizures, motor delay and ataxic gait developed sudden dysarthria and dysphagia with 10 years old, followed by oromandibular and hand dystonia, worsening of gait and aggressive behavior. When she was 14 years old, during a febrile illness, she was admitted to the hospital with sudden tetraparesis with progressive spontaneous improvement. MRI showed discrete cerebellar atrophy and right mesial temporal sclerosis. Whole exome sequencing (WES) revealed a heterozygous missense pathogenic variant in the ATP1A3 gene (c.2155G>A; p.[Gly719Arg]). At present, the patient has daily episodes of ocular, oromandibular, trunk and limb dystonia. Case 2 A 1-month-old boy presented episodes of focal seizures. A few months later, he started to show monocular horizontal nystagmus and paroxysmal episodes of alternating hemiparesis and quadriparesis. Neurologic examination with 1 year old showed global developmental delay and hypotonia. Brain MRI was normal. WES was performed and found a heterozygous missense pathogenic variant in the ATP1A3 gene (c.2443G>A; p.[Glu815Lys]). Case 3 A 5-month-old girl started episodes of dystonic postures of the limbs. She also showed global developmental delay and ataxia. Brain MRI was normal. WES showed a heterozygous missense pathogenic variant in the ATP1A3 gene (c.2839G>A; p.[Gly947Arg]). At present, she is 19 years old and has mild cognitive impairment and occasional episodes of sudden hemidystonia. Case 4 A 2-year-old girl with a history of seizures presented episodes of choreoathetosis. 1 year later, she started episodes of convergent strabismus and exotropia of the right eye. 7 months later, she had a sudden episode of hemiparesis with spontaneous improvement. At the age of 5 years old, she was hospitalized with worsening seizures during a febrile illness, developmental regression, choreoathetosis and dystonic postures of hands and feet. Brain MRI showed global cerebral atrophy. WES demonstrated a heterozygous missense likely pathogenic variant in the ATP1A3 gene (c.2225A>T; p.Asp742Val).

**Discussion:** ATP1A3-related disorders represent an expanding spectrum of clinical manifestations with 3 classical phenotypes: rapid-onset dystonia-parkinsonism, alternating hemiplegia of childhood (AHC) and CAPOS syndrome.

**Final Comments:** Here we described 2 typical cases of AHC (cases 2 and 3), 1 case of AHC with prominent chorea and important developmental regression (case 4) and 1 atypical case showing overlapping phenotype (case 1).

ID: 603

Area: Cerebrovascular diseases and in-
tensive care in child neurology

Presentation method: Presentation
Poster

Non-aneurysmal perimesencephalic subarachnoid
hemorrhage in a pediatric patient: case report

Ana Clara Bernardi<fnref n="1" />, Gabriel De Lellis Neto<fnref n="1" />, Hugo Leonardo
Justo Horácio<fnref n="1" />, Renata Yasmin Cardoso Sousa<fnref n="1" />, Michele
Michelin Becker<fnref n="1" />, Lygia Ohlweiler<fnref n="1" />, Josemar Marchezan<fnref n="1" />,
Josiane Ranzan<fnref n="1" />

*Correspondence: acbsaul@gmail.com.

Abstract

**Case Presentation:** Male, 6-years-old, previously healthy, with no recent history of head trauma, presented with acute intense headache in the occipital area while doing physical activity, associated with vomit and back pain. He was mediated for pain at home and evolved with partial improvement of the symptoms. 10 hours later, he had a new episode of headache with the same characteristics, this time waking him up at night. In the emergency room, he presented with cervical hyperextension and nuchal rigidity. Lumbar puncture came back with numerous erythrocytes and computed tomography of the head showed subarachnoid hemorrhage in the prebulbar, prepontine and interpeduncular areas, and in the supraselar cystern, with blood in the fourth ventricle. The patient was then transferred to the Intensive Care Unit and further investigated with an arterial angiotomography of the head, that didn't show any additional alterations. The neurosurgery team suggested conservative care, and child neurology was then consulted. Nimodipine 0,5mg/kg every 4 hours was initiated to prevent vasoespasm. He evolved with progressive improvement of the symptoms and after a week of the initial event a magnetic ressonance was performed, that showed regression of the hemorrhage. Laboratory results, including coagulation tests, came back normal. Due to the benign evolution of this case, non-aneurysmal perimesencephalic subarahacnoid hemorrhage (PMSAH) was suspected, and venous angioressonance confirmed the presence of a primitive variant of the basal vein of Rosenthal draining into the left transverse sinus, which is commonly seen in this diagnosis. Since the risk of vasoespasm reduces drastically after a week of the event and is close to zero after 15 days, nimodipine was discontinued and the patient was discharged after 17 days of the event, completely asymptomatic.

**Discussion:** PMSAH is a rare condition in adults and has not been previously described in pediatric patients. The treatment of this patient was, therefore, conducted according to adult guidelines. Still, the prognosis is usually excellent, with full recuperation in most cases and extremely low chances of reoccurrence. Once the presence of a primitive variant of the basal vein of Rosenthal is confirmed, no further and more invasive exams are needed.

**Final Comments:** PMSAH should be remembered as an un-
common presentation of subarachnoid hemorrhage, but oth-
er etiologies of hemorrhagic stroke must always be
investigated.

<footnote n="1">¹Universidade de São Paulo, Faculdade de Medicina, Hospital das Clínicas, São Paulo SP, Brazil.</footnote>

<footnote n="1">¹Hospital de Clínicas de Porto Alegre, Porto Alegre RS, Brazil.</footnote>
ID: 604

Area: Epilepsies

Presentation method: Eletronic Poster

Developmental and epileptic encephalopathy related to
AARS1 (DEE29): a case report

Laura Maria Viscardi Brighenti<fnref n="1" />*, Pedro Zambusi Naufel<fnref n="1" />,
Marcilia Lima Martyn<fnref n="1" />, Eduardo Ferraz Troijo<fnref n="1" />, Loiane Dante
Correia Rocha<fnref n="1" />, Debora Carinhato Thomaz<fnref n="1" />, Manoel Jacinto
Abreu Neto<fnref n="1" />

¹Santa Casa de Misericórdia de São Paulo, São Paulo SP, Brazil.

*Correspondence: lauramvbrigh@gmail.com.

Abstract

**Case Presentation:** Female patient, the first child of a non-consanguineous couple, without relevant gestational history, presented her first epileptic seizure at 2 months of age, characterized as a focal seizure evolving into bilateral tonic clonic seizures. There were no alterations in the neurological examination nor delays in neuropsychomotor development (NPMD). In the following 2 months, he presented sporadic crises, with the same characteristics, and opted for the introduction of Phenobarbital. At 5 months, however, she evolved with infantile spasm-type crises, hypsarrhythmia on the electroencephalogram, regression of NPMD landmarks, and the head circumference growth arrest. From the medication point of view an attempt was made to control the crisis with Vigabatrin, Prednisolone, Pyridoxal Phosphate and ACTH, and the control of the spasms and resolution of the Hypsarrhythmia happened only 45 days later. Despite the spasms control, the focal seizures persisted for another 10 days, controlled later with the use of Levetiracetam. During the diagnostic investigation an epilepsy Panel identified, in heterozygosis, a pathogenic variant in the AARS1 gene (alanyl-tRNA synthetase 1, OMIM*601065).

**Discussion:** Variations in Homozygosity or Compound Het-
erozygosity in the AARS1 gene have been recently described
in the literature and related to Epileptic and Developmental
Encephalopathy 29 (DEE29). It is a rare neurological disease,
characterized by refractory epilepsy beginning in early child-
hood associated with global delay of NPMD. Peripheral
neuropathy, areflexia, spasticity, in addition to progressive
cerebral atrophy and cerebral hypomyelination on imaging
examination may also accompany the condition.

**Final Comments:** Epileptic and developmental encephalopa-
thy related to AARS1 gene alterations is a rare condition with
few reports in literature. With the genetics evolution and
increasing discoveries in possibly pathogenic genes, being
able to characterize a phenotype and relate it to these
alterations is very important, both for managing cases as
for family counseling.

ID: 605

Area: Neuropsychiatric disorders and
learning disorders

Presentation method: Presentation
Poster

Analysis of two questionnaires for ADHD screening in schoolchildren

Sthefanny Josephine Klein Ottoni Guedes<fnref n="1" />, Larissa Lavarias Gessner<fnref n="2" />, Rafaela Sorpile Araújo<fnref n="2" />, Ana Cláudia Araújo de

Argentino<fnref n="2" />, Júlia Gabriela Franck<fnref n="2" />, Mariana Vesco Diniz<fnref n="2" />, João Victor Pereira de Sousa<fnref n="2" />, Andressa Naomy Tamura<fnref n="2" />, Marcos Antonio da Silva Cristovam<fnref n="1" />,<fnref n="2" />

*Correspondence: ma.cristovam@uol.com.br.

Abstract

**Background:** Attention deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder common in early childhood, characterized by generalized and harmful symptoms of inattention, hyperactivity, and impulsivity. Assessment scales are screening tools for ADHD commonly applied to parents and/or teachers for symptoms analysis, because their use is simpler and presents high efficiency for screening, aid in the diagnosis and follow-up of children with ADHD and academic underachievement.

**Objective:** To apply two questionnaires to screening of attention deficit hyperactivity disorder and its subtypes in students with academic underachievement and to evaluate the agreement between them for screening for ADHD.

**Methods:** Application of the questionnaires SNAP-IV scale and Conner's Scale Francisco Rosa Neto's Brazilian version in students attended in publics schools in Cascavel City, PR, Brazil. Another analyzed variable were gender, age, grade, and body mass index. The Kappa Index was used as an indicator of agreement, being classified as: below 0.40 = low agreement; values between 0.40 and 0.75 = moderate to good agreement; and values above 0.75 = excellent agreement.

**Results:** The mean age was 8.9 years, 69.2% of the participants were male, most had normal weight and were concentrated between the 3rd and 5th grades. Both instruments identified the same prevalence of hyperactivity and a difference of 11.5 percentage points for the estimate of attention deficit. Association was observed in the relationship between age and attention deficit by the Conners' Scale, with higher prevalence in older children (9 to 12 years). The agreement between the Conners' Scale and the SNAP-IV questionnaire for the diagnosis of hyperactivity and attention deficit disorder was low, with a Kappa Index of 0.114 and 0, respectively.

**Conclusion:** There was low agreement between the Conners' and SNAP-IV's scales. Nevertheless, the use of these tools is a feasible option, but clinical evaluation through objective criteria is the most important diagnostic resource

ID: 606

Area: Neoplasms

Presentation method: Eletronic Poster

Hypoglossal nerve schwannoma: a case report in a pediatric patient

Victor Alves Souza 1,2*, André Bedin 1,2, Jorge Wladimir Junqueira
Bizzi 1,2, Octávio Ruschel Karam 1,2, Ana Clara Medeiros de Souza
Thibes 1,2, Samir Cezimbra dos Santos 1,2, Gabriel Bolner 1,2,
Manuella Giusti Fin 1,2, Morghana Machado da Rosa 1,2

*Correspondence: victoralves15@outlook.com.br.

Abstract

Case Presentation: An 8-year-old previously healthy male patient sought medical attention for a four-month history of gait disturbance, associated with dysarthria and headache

<footnote n="1">¹Universidade Estadual do Oeste do Paraná, Cascavel PR, Brazil.</footnote>

<footnote n="2">²Hospital Universitário do Oeste do Paraná, Cascavel PR, Brazil.</footnote>

<footnote n="1">¹Santa Casa de Misericórdia de Porto Alegre, Porto Alegre RS, Brazil.</footnote>

<footnote n="2">²Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre RS, Brazil.</footnote>
with progressive worsening. Upon examination, a MRI identified a heterogeneous mass with cystic components and magnetic susceptibility artifacts in between, suggestive of hemoglobin degradation/calcifications, measuring approximately 5.6 x 4.0 x 4.5 cm in the right ponto-cerebellar cistern. The mentioned expansive lesion determines extrinsic compressive effect on the right cerebellar hemisphere and brainstem, with obliteration of the IV ventricle, reduction of the amplitude of the mesencephalic aqueduct, contact with the sigmoid sinus laterally, and cranial displacement of the right trigeminal nerve. Surgery: A right-sided retrosigmoid craniotomy was performed, with gross total resection, and two anchoring points were visualized next to the right cerebellar hemisphere. Postoperative: The patient had a good postoperative outcome, except for persistent dysphagia, which led the medical team to contraindicate oral intake. Diagnosis: Histopathological examination classified the tumor fragments as astrocytomas, however, immunohistochemistry showed that it was actually a Ki 67 1% schwannoma, indicating that the tumor is benign and has a low cellular growth rate, which is a good prognosis for the patient.

**Discussion:** Schwannoma of the Hypoglossal nerve is a benign tumor developed from the Schwann cells that involve that nerve. This type of tumor accounts for only 5% of non-vestibular schwannomas. In addition, this disease rarely occurs in pediatric patients, turning the described case relevant to the scientific community. Common symptoms include dysphagia, hoarseness, cervical pain and tongue paresis. These symptoms may vary depending on the location of the tumor - usually intracranial. With slow growth, the schwannomas usually cause clinical manifestations when they are approximately 2 cm in diameter. Complete surgical resection is the treatment of choice, but it can be hard because of the important neurovascular structures that surround it. In pediatric patients, prognosis is usually favorable.

**Final Comments:** The report presents a rare case of hypoglossal schwannoma, with an unusual patient age and tumor characteristic, which may be useful for the medical community dealing with similar cases.

## ID: 608

### Area: Neurogenetics

#### Presentation method: Presentation Poster

**Behr syndrome secondary to compound heterozygosis mutation of the OPA1 gene: rare disease reported in a neuropediatric patient with early presentation**

Mônica Alexandra de Conto<fnref n="1" />*, Daniel Almeida Valle<fnref n="1" />, Mara

Lucia Schmitz Ferreira Santos<fnref n="1" />, Lisandra Coneglian Farias

Rigoldi<fnref n="1" />, Suelen Santos Henrique<fnref n="1" />, Andressa Taine

Szczypkovski<fnref n="1" />, Lorena Vilela Rezende<fnref n="1" />, Rui Carlos Silva Junior<fnref n="1" />,

Giulia Vilela Silva<fnref n="1" />

#### Abstract

**Case Presentation:** Female child, 13 years old, born at term, childbirth without intercurrences. Daughter of non-consanguineous and healthy parents. With onset of symptoms in early childhood, with neuropsychomotor development delay progressive optic nerve atrophy, Ophthalmoplegia and ataxia. Evolves with epilepsy, stroke at age 5, hypothyroidism and demyelinating sensorimotor polyneuropathy. Brain MRI with hypoplasia of the inferior vermis, volumetric reduction of the

visualized portions of the bulbomedullary junction, atrophy of the nerves and optic chiasm. In genomic sequencing, a pathogenic variant c.1146A>G, p.(Ile382Met), was found in exon 12 of the OPA1 gene and a variant of uncertain significance, c.2614-6T>G, was found in the intronic region that precedes exon 26 of the OPA1 gene, both heterozygosis.

**Discussion:** The OPA1 gene provides instructions for making a protein called mitofusin-1, which is found in cells and tissues throughout the body. It is located in the inner mitochondrial membrane and is involved in mitochondrial dynamics and mtDNA maintenance. Retinal ganglion cells appear to be particularly sensitive to the effects of OPA1 gene mutations, and consequent changes in mitochondrial function and decreases in energy production. However, some patients have multisystem manifestations with varying levels of severity. Behr syndrome is a clinical term, caused by homozygous or compound heterozygous mutations in the OPA1 gene on chromosome 3q29, that refers to the constellation of early-onset optic atrophy accompanied by neurologic features, including ataxia, pyramidal signs, spasticity, and mental retardation. In the case of the patient in question, two mutations were found in the OPA 1 gene, one known to be pathogenic and the other variant of uncertain significance, affecting the intronic region of that gene. Furthermore, this patient evolved with comorbidities little reported in the literature associated with Behr syndrome, with epilepsy and ischemic stroke.

**Final Comments:** Behr syndrome is a rare disease, but one that can have a significant impact on the quality of life of affected patients. Our report confirms the broad in the phenotypic spectrum associated with recessive OPA1 mutations and it reinforces the questioning of the role of mutations in intronic regions in the severity of the clinical presentation.

## ID: 609

### Area: Movement disorders

#### Presentation method: Eletronic Poster

**Differential diagnosis between stereotypic movement disorder and autistic spectrum disorder: a case study of a boy with pervasive developmental delay**

Ana Paula Espínola de Almeida, Heloisa de Freitas Pacifico, Antonio Luiz da Silva, Meire Glaucia Medeiros Ferreira

#### Abstract

**Case Presentation:** A 4-year-old male child was evaluated at a health service, considering the suspected diagnosis of Autism Spectrum Disorder (ASD). The respective child had a prior diagnosis of F84.8 (Other Pervasive Developmental Disorders).

**Discussion:** The child was evaluated by a psychologist and a neurologist. The mother's main complaint was that the child had speech delays and performed motor stereotypies. No past illnesses were reported. Regarding development, the child walked at 2 years and 3 months, started babbling the first words at 4 years old and was wearing diapers. In the evaluations, it was clinically observed that the child intended to carry out social interaction, as he directed attention when called by name and maintained eye contact (shared attention), demonstrated social reciprocity in the evaluative context, tried to interact through non-verbal communication with the professionals. In verbal and non-verbal communication, it was observed that the subject had significant delays in expressive language, understood simple commands

<footnote n="1">¹Hospital Infantil Pequeno Príncipe, Curitiba PR, Brazil.</footnote>

<footnote>*Correspondence: mony.alexandra@hotmail.com.</footnote>

<footnote>*Correspondence: aninha_espinola@hotmail.com.</footnote>
(receptive language), pointed to objects of interest, did not speak simple words, but intended to communicate non-verbally and performed motor stereotypies (flapping), but did not perform other repetitive behaviors.

**Final Comments:** In view of the clinical behaviors, in which the child had functional preservation of communicative intention and social reciprocity, the infant did not meet diagnostic criteria for ASD, but met criteria for a child with Global Developmental Delay associated with Stereotypical Movement Disorder. Stereotypic Movement Disorder (F98.4) according to the DSM-5 is repetitive motor behavior, apparently directed and without purpose, interferes with social, academic or other activities, the onset is early in the developmental period and the behavior Repetitive motor is not attributable to the physiological effects of a substance or the neurological condition. Thus, in child diagnostic evaluations, health professionals need to be aware of the diagnostic criteria of each disorder, and that in the anamnesis they investigate the history of development, observe the child's behavior in the evaluation and evaluate possible comorbidities associated with the main disorder.

ID: 610

**Area: Neurogenetics**

Presentation method: Eletronic Poster

**Clinical symptoms of a child with rare Dravet syndrome associated with autistic spectrum disorder and intellectual disability: a case study**

Ana Paula Espínola de Almeida, Heloisa de Freitas Pacifico, Ana Maria Andrade de Meneses, Antonio Luiz da Silva, Liana Clébia de Morais Pordeus

*Correspondence: aninha_espinola@hotmail.com.

**Abstract**

**Case Presentation:** A 6-year-old male child was evaluated by a team composed of a psychologist and a neurologist to assess symptoms of Autism Spectrum Disorder (ASD). The child had a genetic diagnosis of Dravet Syndrome. Regarding neuro-psychomotor development, the child walked at 8 months, started babbling the first words at 8 months, but presented speech regression and was still wearing diapers. In view of the personal background, the child had paralysis in the body, several episodes of seizures, cardiac alterations and gait imbalances.

**Discussion:** Through the anamnesis and the child's behavior in the assessments, it was observed that the infant had impairments in social reciprocity, did not direct attention when called by name, had fragmented eye contact. He had impairments in expressive and receptive language. He spoke simple words, but without communicative intention, had cognitive impediments to form dialogues, had immediate echolalia. He took the adult's hand to direct it to the object of interest. During the evaluations, he performed motor stereotypies with his hands and verbal stereotypy, looked at objects in a peculiar way, lined up toys and had an idiopathic equine gait. Regarding adaptive skills/activities of daily living, the child was totally dependent on the mother to perform them.

**Final Comments:** In view of impairments in socialization, communication and the presence of stereotyped behaviors, the child met diagnostic criteria for ASD and scored 36 points (mild/moderate autism) on the Childhood Autism Rating Scale, but also met diagnostic criteria for Intellectual Disability that compromises intellective functions and adaptive abilities. Dravet syndrome or severe childhood myoclonic

epilepsy is a severe and chronic encephalopathy that causes irreversible neurological damage and has a high mortality rate in childhood. In short, the child had a rare genetic disorder associated with cognitive impairments, recurrent seizures and ASD symptoms. In the diagnostic evaluation, it was crucial to observe the child's other comorbidities, as referrals were given due to the need for the infant to be continuously monitored by a multidisciplinary team, given the progressive and neurodegenerative impairments observed in the respective child.

ID: 611

**Area: Neurogenetics**

Presentation method: Presentation Poster

**Dystonia related to the KMT2B gene: case report**

Lisandra Coneglian Farias Rigoldi<fnref n="1" />, Daniel Almeida Valle<fnref n="1" />, Mônica Alexandra Conto<fnref n="1" />, Andressa Taine Szczypkovski<fnref n="1" />, Suelen Santos Henrique<fnref n="1" />, Lorena Vilela Rezende<fnref n="1" />, Giulia Vilela Silva<fnref n="1" />, Rui Carlos Silva Junior<fnref n="1" />, Mariah Pereira Andrade Vallim<fnref n="1" />

*Correspondence: lisandra.coneglian@gmail.com.

**Abstract**

**Case Presentation:** LEN, 4 years old, previously healthy, perinatal history without abnormalities, started with symptoms of encephalitis-typical behavioral and laboratory changes, started corticosteroid therapy and immunomodulation, with improvement of symptoms. At 5 years of age, the disease flared up and received pulsetherapy and human immunoglobulin, this time with little therapeutic response. Protocolly indicated to use of rituximab with improvement. It remained stable until age 7. After that age, the condition began to regress, with dystonia of the face and limbs, making it impossible to walk, change in behavior-aggressiveness. Complementary and genetic investigations were carried out, the neuroimaging was normal, and the exome showed a condition associated with the KMT2B gene. The patient faces persistent facetrism dystonia and dysphagia, using anticholinergics, benzodiazepines, atypical antipsychotics and cannabidiol with partial control of symptoms.

**Discussion:** Dystonia is the most common hyperkinetic movement disorder in pediatrics, characterized by sustained or intermittent muscle contractions, causing abnormal and repetitive movements and postures. Dystonia related to the KMT2B gene is a complex movement disorder with onset in childhood whose prevalence is not established, so far it has been reported to occur in 39 individuals. Inherited in an autosomal dominant manner, the disease has a progressive course, evolving from focal dystonia of the lower limbs to generalized dystonia with cervical, cranial and laryngeal involvement. Regarding reported related psychiatric comorbidities, cognitive impairment with neurodevelopmental retraction, attention-deficit/hyperactivity disorder and obsessive-compulsive disorder were described. Although KMT2B-related disease is emerging as one of the most common causes of early-onset genetic dystonia, much remains to be understood about the disease as well as its pharmacological management, the use of high-dose anticholinergics in conjunction with benzodiazepines is described as an effective combination, still in discussion about the benefits in deep brain stimulation. Regarding the accurate investigative genetic examination, the complete exomic sequence is suggested as a first-line option in cases of complex or

<footnote n="1">¹Hospital Pequeno Príncipe, Curitiba PR, Brazil.</footnote>
combined dystonia due to its good performance and effec-
tiveness in detecting associated variants.

Final Comments: KMT2B gene mutation is an etiological entity of severe and early dystonia whose diagnosis requires genetic study and strategic treatment.

with rapid obesity, hypothalamic dysfunction accompanied
by personality changes and developmental regression.
Prompt recognition and timely application of respiratory
support may prevent grave complications leading to unpre-
pared mortality.

ID: 612

Area: Neurological manifestations of
systemic diseases

Presentation method: Presentation
Poster

ROHHADNET (rapid-onset obesity with hypoventilation, hypothalamic dysfunction, autonomic dysregulation and a neuroendocrine tumor) as a rare cause of child obesity presenting with behavioral change

Felipe Arthur Jorge<fnref n="1" />, Louise Scridelli Tavares<fnref n="1" />*, Bryan da Silva Marques Cajado<fnref n="1" />, Vinicius Alves Lima<fnref n="1" />, Pedro Barbosa Oliveira<fnref n="1" />, Mateus de Oliveira Torres<fnref n="1" />, Alulin Tácio Quadros Santos Monteiro Fonseca<fnref n="1" />, Marcelo de Melo Aragão<fnref n="1" />, Ricardo da Silva Pinho<fnref n="1" />

*Correspondence: louise.tavares@hotmail.com.

Abstract

**Case Presentation:** A previously healthy child developed hyperphagia and rapid weight gain at the age of 3 years. By the age of 4, she met criteria for infantile obesity and started to present social withdrawal, poor school performance and a flat affect. By the age of 6, during investigation for secondary causes of obesity, paravertebral ganglioneuroblastoma was found. She was submitted to surgical resection with no complications, but later developed severe hypoventilation episodes aiding intubation until a tracheostomy was performed. Polysomnography studies revealed a central apnea pattern and BiPAP was installed. She also developed multiple episodes of hyponatremia due to insipidus diabetes and also frequent episodes of hypothermia, meeting the clinical criteria for ROHHADNET (Rapid-onset Obesity with Hypoventilation, Hypothalamic Dysfunction, Autonomic Dysregulation neuroendocrine tumor). Due to these findings, new generation sequencing of PHOX2B gene that encodes paired-like homeobox protein 2B was performed, but no pathogenic variants were found. Treatment with modafinil, bupropion and desmopressin acetate were initiated and behaviour and endocrinological symptoms improved.

**Discussion:** Rapid onset obesity with hypoventilation, hypothalamic dysfunction and autonomic dysregulation (ROHHAD) syndrome is a rare disease and less than 200 cases are described in literature. In approximately 40-56% of cases there is an association with tumors with neural crest origin, and this has included the termination NET into the acronym ROHHADNET. The etiopathogeny includes genetic, epigenetic, and autoimmune factors. Several candidate genes for this study are being studied, and the main candidate gene is PHOX2B. The autoimmune theory is based on concurring neural crest origin tumors, given that they are usually associated with other autoimmune-mediated paraneoplastic syndromes. Treatment is based on multidisciplinary care for obesity, respiratory assessment, hypothalamic dysfunctions, dysautonomia and behavior symptoms.

Final Comments: We recommend that screening for neural crest tumors should always be performed early in patients

ID: 613

Area: Neuroimmunology, multiple scle-
rosis and other demyelinating diseases

Presentation method: Presentation
Poster

Familial multiple sclerosis in a pediatric patient: case report

Mônica Alexandra Conto<fnref n="1" />*, Suelen Santos Henrique<fnref n="1" />, Andressa Taine Szczypkovski<fnref n="1" />, Lisandra Coneglian Farias Rigoldi<fnref n="1" />, Mara Lúcia Schmitz Ferreira Santos<fnref n="1" />, Michelle Silva Zeny<fnref n="1" />, Anderson Nitsche<fnref n="1" />, Elisabete Coelho Auersvald<fnref n="1" />, Daniel Almeida Valle<fnref n="1" />

*Correspondence: mony.alexandra@hotmail.com.

Abstract

**Case Presentation:** Female patient, 11 years old, with paresthesia in fingers. Maternal aunt with multiple sclerosis (MS). A neuraxial magnetic resonance imaging (MRI) showed demyelinating lesions in different evolutionary stages with signs of activity in the bilateral central parietal white matter. After 2 months, she had a new episode of paresthesia in the left C7 region. New MRI showed focal lesions in the peripheral and central portions, mainly at C1, C7, T1, T10; demyelinating plaques, in addition to lesions in the subtentorial white matter and signs of an active inflammatory process in the left periventricular region. Cerebrospinal fluid (CSF) tests results showed: positive oligoclonal bands, negative anti-MOG and negative anti-AQP4. Pediatric MS was confirmed, both by the presence of more than 2 non-encephalopathic clinical events of presumed inflammatory origin, with relapses more than 30 days apart, MRI findings consistent with McDonald's 2010 revised criteria for spread in space with an exam showing at least one new lesion. Treatment with methylprednisolone was performed and fingolimoid was prescribed.

**Discussion:** Multiple sclerosis is a disease of young adults. Pediatric MS is when the disease starts before the age of 18 and its prevalence is 1.35-2.5 per 100,000 children. When compared to adults, children tend to have a more aggressive onset with a mul-tifocal presentation and a greater outbreak frequency. But also tend to have a slower pro-gression of the disease with less development of irreversible physical disabilities. It is caused by dysregulation of the peripheral immune system, leading to damage to the central nervous system. Its pathogenesis requires a genetically susceptible individual and an environmental trigger. The 2001 and 2005 McDonald criteria stated that a positive CSF associated with the development of new lesions on serial MRI can be diagnostic, even in a single clinical attack. However, CSF findings were not incorporated into the 2010 criteria for space spread, except for the diagnosis of primary progressive MS. Studies in adult suggest benefit from early institution of disease-modifying drugs. Available efficacy data for pediatric patients with MS are sparse.

Final Comments: This report emphasizes the importance of investigations on the role of genetic and environmental factors in the pathogenesis and inheritance of MS, in addition to the alert for early investigation and diagnosis, especially in the presence of family history.

<footnote n="1">¹Universidade Federal de São Paulo, Escola Paulista de Medicina, São Paulo SP, Brazil.</footnote>

<footnote n="1">¹Hospital Infantil Pequeno Príncipe, Curitiba PR, Brazil.</footnote>
ID: 615

Area: Neurogenetics

Presentation method: Presentation
Poster

**Case report: Perching syndrome**

Juliana Greghi Hernandez¹, Bárbara Maini Carvalho¹, Daniele Ferreira Rocha¹, Amanda Sousa Ribeiro¹, Allana Kristina Borges Costa¹, Hana Brito¹, Rafael Guerra Cintra¹, Paulo Breinis¹, Rubens Wajnsztejn¹

¹Faculdade de Medicina do ABC, Santo André SP, Brazil.

*Correspondence: jugreghi@hotmail.com.

Abstract

**Case Presentation:** Female patient, 3 years old, diagnosed with Perching syndrome. The patient is the daughter of non-consanguineous parents who had 2 previous abortions. During prenatal care, the patient received diagnosis of cardiac rhabdomyoma and thinning of the corpus callosum. After birth, she developed suction difficulties, neuropsychomotor developmental delay and axial hypotonia; in addition, the patient developed stridor after feedings and repeated pulmonary infections, requiring tracheostomy and gastrostomy in the age of 2 months old. In the evaluation, the patient presented facial dysmorphisms such as hypertelorism and retrognathia, in addition to deformity of the limbs with joint contractures and camptodactyly. At 12 months of age, next-generation sequencing was collected and two heterozygous pathogenic variants were identified in the KLHL7 gene: a) TCTGA>T, at position chr7:23,140,920, a stop codon, and b) G>C, in position chr7:23,144,030 classified as probably pathogenic, which is related with altered mRNA processing and can be correlated with the clinical findings of the patient.

**Discussion:** Perching syndrome is an autosomal recessive multisystem disorder caused by homozygous or compound heterozygous variants (truncating and missense) in Kelch Like Family Member 7 gene (KLHL7), located on chromosome 7p15. It is characterized by global developmental delay, axial hypotonia, facial dysmorphisms, joint contractures, in addition to impairment in growth, feeding and nutrition. Patients may also have retinitis pigmentosa, cardiac abnormalities, genitourinary tract abnormalities, and excessive sweating. There are few cases reported in the world- since the first report of the syndrome in 2016, 18 patients have been reported- however, knowledge about this rare differential diagnosis is important in the face of an encephalopathy with phenotypic changes.

**Final Comments:** Constant training in the area of genetics and dysmorphology is important to prevent these cases from remaining undiagnosed.

ID: 616

Area: Neuroimmunology, multiple scle-
rosis and other demyelinating diseases

Presentation method: Presentation
Poster

Clinical, diagnostic and therapeutic aspects of autoimmune
encephalitis in pediatrics: a systematic review regarding
treatment with immunobiologicals

Lorena Fernanda Costa de Oliveira¹, Claudia Ambrosio Polloni¹,
Lucas de Brito Costa¹, Maria Carolina Viana Brito¹

¹Universidade Santo Amaro, São Paulo SP, Brazil.

*Correspondence: lucasbritocosta07@gmail.com.

Abstract

**Background:** Autoimmune Encephalitis (AE) is a group of treatable inflammatory diseases of the CNS that affect people of all ages most of the time previously healthy. This condition occurs more frequently in immunocompetent than immuno-compromised individuals and is characterized by prominent neuropsychiatric symptoms. Anti-NMDAR receptor encephalitis is one of the most common causes of AE. Patients with AE may present a variety of movement disorders, such as ataxia, dystonia, myoclonus, and orofacial dyskinesia. Seizures are the most common symptom, and different types can be observed, from focal to generalized, including refractory status epilepticus.

Objective: To list the main aspects of autoimmune encephali-
tis in pediatrics.

**Methods:** A systematic review was performed based on the PRISMA recommendations. In addition, the MEDLINE, LILACS and SciELO databases were used, as well as consultations with recent editions of relevant journals on the subject, such as the Neuropsychiatry Archives. Articles with full texts from the last 7 years, in English, Spanish and Portuguese and dealing with the issue in the pediatric age group were included.

**Results:** The discovery of the class of autoimmune encephalitis has changed the diagnostic and therapeutic approach to many neurological or psychiatric syndromes previously considered idiopathic. Physicians should be aware of the different laboratory evaluation methods available, as well as the proper interpretation of results. Encephalitis should be considered in the face of the sudden onset of neuropsychiatric symptoms with a variable spectrum, as early diagnosis and therapy are key factors. The treatment scheme is based on observational studies and clinical experience with anti-NMDAR encephalitis, as it is the most prevalent and most studied type. Therefore, the conduct must be individualized for each patient, considering age, whether there is a tumor and the severity of manifestations.

Conclusion: Cases that do not require intensive care and do not have an underlying tumor are also associated with a better prognosis.

ID: 621

Area: Epilepsies

Presentation method: Presentation
Poster

Spatio-temporal analysis of epilepsy hospitalizations in
children

Luiz Carlos Figueiredo Filho ¹,², Isadora Rocha Rosa ¹,², Laura Lino Gonçalves ¹,²*

¹Liga Acadêmica de Neurologia e Neurocirurgia do Estado do Pará,
Belém PA, Brazil.

²Universidade do Estado do Pará, Belém PA, Brazil.

*Correspondence: lauralinog@gmail.com.

Abstract

Background: Epilepsy is the most prevalent chronic neuro-
logical disease in the world, with clinical features of recurrent
seizures due to excessive and abnormal discharges, resulting
in sensory, motor, and behavioral agitation. In childhood,
many of its causes have genetic, metabolic, or structural
etiology, being secondary to encephalopathies, infections of
the nervous system, and traumatic brain injury.
**Objective:** To carry out an analysis of temporal and spatial variation in the number of hospitalizations due to epilepsy in pediatric patients.

**Methods:** This is a quantitative ecological study, with a temporal analysis between the years 2018 to 2022 on cases of hospitalization for epilepsy in children in Brazil. Secondary data was used from the Hospital Morbidity database of the SUS (SIH/SUS). The following variables were collected: the number of hospitalizations, sex, age group, region of notification, and color/race. Descriptive and statistical analyzes were performed. To assess the association between exposure and variables, relative risk (RR) values with a 95% confidence interval (CI) were calculated.

**Results:** A total of 110,219 cases of hospitalization for epilepsy among children between the years 2018 and 2022 were analyzed. In terms of regions, the Southeast region had the highest occurrence of hospitalizations (N=37487/34.01%) and presented a risk of 1.56 (95%CI: 1.54-1.59), followed by the Northeast region (N=32729/29.69%) with a relative risk of 1.41 (95%CI: 1.39-1.43). As for the age groups of children, the highest hospitalization rates in pediatric patients are present between 1 and 4 years old (46803/42.46%) with an exposure risk of 1.90 (95%CI: 1.88-1.93) and in patients between 5 and 9 years old (N=25754/23.36%) with risk of 1.21 (95%CI: 1.19-1.23). As for the gender of the patients, it was noticeable that males obtained higher values (N=60985/55.33%) compared to females (N=49234/44.66%), with a risk of male exposure of 1.15 (95%CI: 1.14-1.16). Regarding color/race, a greater number of brown pediatric patients was observed compared to the others (N=51775/46.97%). However, many cases were not reported (N=22759/20.64%). Given this, it is possible to state that the profile of pediatric epilepsy patients predominantly is in the preschool age group, male, mixed race, and residents of the Southeast region.

**Conclusion:** In this scenario, the analysis of exposure factors in this population is necessary, in addition to better information on reported cases.

ID: 622

**Area: Neuropsychiatric disorders and learning disorders**

**Presentation method: Presentation Poster**

**The effects of screen time in ASD symptoms or ASD-like symptoms in children**

Sofia Lorenzoni Vale<fnref n="1" />*, Gustavo Câmara Vale<fnref n="1" />, Hariffe Vale Piedade<fnref n="1" />, João Guilherme Salomão Silva<fnref n="1" />, Laura Lino Gonçalves<fnref n="1" />, Larissa Lina Takehana<fnref n="1" />, Marcos Vinícius da Costa Gonçalves<fnref n="1" />, Murillo Vale Pires<fnref n="1" />

**Abstract**

**Background:** Autism Spectrum Disorder (ASD) has historically been linked to congenital variables such as genetics and brain morphophysiological abnormalities. However, postnatal environmental influences, particularly screen time, have been linked to the development of symptoms suggestive of autism.

**Objective:** To investigate the influence of screen time in ASD symptoms or ASD-like symptoms in children.

**Methods:** In March 2023, a systematic review was carried in PubMed and VHL using the descriptors "screen time", "child", and "autism spectrum disorder". Articles published more than 5 years ago or that did not fit the chosen thematic

were excluded. To avoid selection biases among writers, the Rayyan software's "Blind On" option was used.

**Results:** The results were separated into two categories. The first category is composed of research that describe excessive screen time as a contributing factor to symptoms severity in children with ASD. According to the reviewed literature, stereotyped motions, intolerance to social engagement, aberrant sensory responses and linguistic delays are some of the symptoms that can be intensified. It has also been demonstrated that the COVID-19-imposed social isolation and reliance on technology have worsened the vulnerability of children with ASD, as they have a larger proclivity to use screens. However, encouraging results were obtained: reducing exposure to social media and promoting communication between caregivers and children with ASD can improve the quality of life for these patients, resulting in symptom reduction, improvements in social communication skills, improvements in sleep quality and in a lower vulnerability to bullying. Furthermore, some experts argue that controlled and targeted use of screen time may benefit the neurodevelopment of children with ASD. The second category of studies presents screen time as a potential trigger of ASD-like symptoms in non-autistic youngsters. A Japanese study found that 1-year-old toddlers who were exposed to excessive screen usage had a greater risk of ASD diagnosis at age 3.

**Conclusion:** According to recent scientific literature, excessive screen time may have an impact on ASD-related symptoms. The research, however, is limited to numerical data that corroborate their theories, lacking in-depth exploration of the biological mechanisms occurring in the nervous system. The combination of these factors emphasize the importance of additional research on this topic.

ID: 623

**Area: Neuromuscular diseases**

**Presentation method: Eletronic Poster**

**Rapidly progressive Charcot-Marie-Tooth type 2 syndrome in a young child: a case report**

Claudia Ambrosio Polloni<fnref n="1" />, Lucas Brito Costa<fnref n="1" />, Lorena Fernanda Costa Oliveira<fnref n="1" />, Maria Carolina Viana Brito<fnref n="1" />

**Abstract**

**Case Presentation:** M.S.D, a female child, firstborn of non-consanguineous parents, had normal development until the age of four when she started to develop progressive foot deformities, decreased sensitivity, gait alteration, and frequent falls. On examination, she had cavus feet with toes retraction, greater plantar arch cavitation, steppage gait pattern, abolished osteotendinous reflexes in the lower limbs with reduced strength, calf hypotrophy, and reduced thermal and painful sensitivity distally in lower limbs. She progressed rapidly, requiring orthotics and surgical correction of deformities. After three years, she developed reduced strength and hand deformities. Molecular study with new-generation sequencing identified a pathogenic heterozygous alteration in the MFN2 gene. Father and mother were asymptomatic on examination.

**Discussion:** Charcot-Marie-Tooth (CMT) syndrome is not a single disease but rather a group of neuropathies, is the most frequent hereditary neuropathy, affecting 1 in every 2,500 people. It refers to a group of disorders characterized by chronic hereditary sensory and motor polyneuropathy.

<footnote n="1">¹Universidade do Estado do Pará, Belém PA, Brazil.</footnote>

<footnote>*Correspondence: slorenzonivale@gmail.com.</footnote>

<footnote n="1">¹Universidade Santo Amaro, São Paulo SP, Brazil.</footnote>

<footnote>*Correspondence: claupolloni@gmail.com.</footnote>
Individuals with CMT present with symmetric and slowly progressive distal motor neuropathy, usually beginning in the first to third decade and resulting in weakness and muscle atrophy often associated with sensory loss. More than 80 different genes are associated with CMT. The diagnosis is based on characteristic findings, family history, electromyography, and molecular genetic testing. The absence of a family history does not eliminate the possibility of the disease. Mitofusin-2 is a protein encoded by the MFN2 gene. Mutations in MFN2 (most commonly autosomal dominant) cause CMT type 2A, the most common axonal form of CMT, which is clinically heterogeneous. Symptoms begin on average at age 7 or 8. Childhood onset of CMT2A is the most predictive marker of significant disease severity. Unfortunately, there is currently no specific treatment. The goal of this study is to report the case of a patient with CMT who presented symptoms early in childhood with rapid progression, and to review the literature.

**Final Comments:** Charcot-Marie-Tooth disease is rare but unfortunately, among neuropathies, it is one of the most common. The case report underscores the importance of recognizing and managing patients with CMT syndrome and conducting genetic investigations to achieve early diagnosis, which can significantly improve patients' quality of life.

ID: 625

Area: Neuromuscular diseases

Presentation method: Eletronic Poster

**Bethlem myopathy: case report in a 7-year-old patient**

Ana Elisa Ribeiro de Faria<fnref n="1" />, Debora Carinhato Thomaz<fnref n="1" />,
Fernanda Sá Bohn Assis<fnref n="1" />, Paulo Breinis<fnref n="1" />, Loiane Dante Correia
Rocha<fnref n="1" />, Raquel Monico Cavedo<fnref n="1" />, Natalia Josiele Cerqueira
Checon<fnref n="1" />, Hugo José de Carvalho Garcia dos Santos<fnref n="1" />

*Correspondence: decarinhato15@gmail.com.

Eduardo Ferraz Troijo,<fnref n="1" /> Pedro Zambusi Naufel,<fnref n="1" /> Rafael Guerra Cintra<fnref n="1" />

**Abstract**

**Case Presentation:** ELS, 7 years old, third child of a non-consanguineous couple, with no relevant gestational or neonatal history, with difficulty walking since walking, with worsening in the last year. Relevant family history of great-uncle with similar condition, without diagnosis. Evaluated by our team, at 7 years of age. At the neurological examination in the first consultation, she presented contracture in the distal portion of the lower limbs, affecting both feet, being more evident on the right. Proximal and distal muscle weakness, with distal predominance and difficulty in performing fine movements with both hands, due to interphalangeal muscle contracture. Positive Gowers maneuver. The patient had laboratory tests with elevated CPK (973- VR:190). During the clinical evolution, muscular atrophy of the limbs and the presence of keloids on both knees were noticed. A diagnostic hypothesis of myopathy was suggested, and genetic investigation was carried out resulting in Muscular Dystrophy associated with the COL6A2 gene - position chr 21:46,125,776, variation G>A.

**Discussion:** Given the clinical picture presented, the patient has dystrophy related to collagen IV, with genotypes associated with alterations molecular changes in the COL6A1, COL6A2 and COL6A3 genes. These mutations are responsible for varied phenotypes, including Ullrich congenital muscular dystrophy (CUDM) and Bethlem myopathy (MB). Bethlem

myopathy tends to have a benign course, with the main characteristic being early contractures of the interphalangeal joints and elbows, joint hypermobility, muscle weakness and formation of keloid scars. However, some reports reveal that Bethlem myopathy can evolve progressively to stop walking. Histopathological findings are usually compatible with dystrophic changes and creatine kinase levels may be normal or mildly elevated, like the patient in question. Ullrich's congenital muscular dystrophy is described as disabling and potentially lethal dystrophy, leading to death mainly due to respiratory complications. Within the phenotype of dystrophies with changes in collagen IV, the patient fits Bethlem's dystrophy, due to its more benign progression and the phenotype presented.

**Final Comments:** The case presented above demonstrates phenotypic changes compatible with the disease described and due to the population prevalence and early onset of the condition, this case report was chosen

ID: 626

Area: Epilepsies

Presentation method: Eletronic Poster

**Epilepsy of migrating focal seizures and ketogenic diet: a
hopeful association**

Janaina Moraes Araujo<fnref n="1" />, Lilian Aparecida Sansao<fnref n="1" />, Emanuelle Bianchi da Silva Rocha<fnref n="1" />, Debora de Cassia Tomaz Fernandes<fnref n="1" />, Renan Campi Gomes<fnref n="1" />, Felipe Pires Albuquerque<fnref n="1" />, Livia Pires Albuquerque<fnref n="1" />

*Correspondence: janaina_ni@hotmail.com.

**Abstract**

**Case Presentation:** A healthy male infant, at one month old, started episodes described as ocular eversion and migrating focal involuntary movements, which occurs in cluster without complete recovery of the consciousness between the attacks and with many events per day. Parents denied complications during pregnancy and childbirth, as well as similar cases in the family. Magnetic resonance imaging of the brain and screening for inborn error of metabolism were normal. All several electroencephalogram performed demonstrated asymmetrical and severely disorganization of the base activity and abundant, multifocal and independent epileptiform discharges with predominance at frontal, temporal and occipital regions. The genetic panel for epilepsy evidenced one pathogenic variant in heterozygous in the KCNT1 gene. For treatment, we tried many antiepileptic drugs (valproate, clobazam and phenobarbital), without adequate response and in December of 2022 and January of 2023, he evolved to status epilepticus. After genetic tests evidenced alteration in the coding of potassium channels, we performed a therapeutic test with quinidine 5 mg/kg/day associated with ketogenic diet, with satisfactory response. However, due to significant weight loss, it was necessary to suspend the diet, and then crises returned. In March of 2023, we restarted ketogenic diet in the form of industrialized supplement associated with quinidine, valproate, clobazam and phenobarbital with resolution of the crises.

**Discussion:** Epilepsy of migrating focal seizures is a rare epileptic encephalopathy (so far, there is only 200 cases described on the literature), caused by a pathogenic variant in the KCNT1 gene. This disorder is characterized by seizures with poor response to various antiepileptic drugs and

<footnote n="1">¹Santa Casa de Misericórdia de São Paulo, São Paulo SP, Brazil.</footnote>

<footnote n="1">¹Faculdade de Medicina de São José do Rio Preto, São José do Rio Preto SP, Brazil.</footnote>
neurodevelopmental impairment. In our case, we tried many
drugs and even quinidine had a poor control of the crises. The
adequate control was obtained only with the association of
ketoogenic diet.

*Final Comments:* The ketogenic diet is an important option in patients with refractory epilepsy and impossibility to undergo surgery, with reduction or control of the seizures up to one-third of the patients. Epilepsy with migrating focal seizures can cause severe developmental delay and with this case report, we aim to share this treatment option.

ID: 627

Area: Malformations of the central
nervous system

Presentation method: Eletronic Poster

Severe Hydranencephaly due to chorioamnionitis: case report

Rita de Cássia Silva <fnref n="1" />,<fnref n="2" />*, Amanda Rodrigues Cavalcante <fnref n="1" />,<fnref n="2" />, Arthur Henrique Abreu Rocha <fnref n="1" />,<fnref n="2" />, Arthur Henrique Carvalho Costa <fnref n="1" />,<fnref n="2" />, Geovana Soares Barbosa <fnref n="1" />,<fnref n="2" />, Júlia Daiana Esteves Reis <fnref n="1" />,<fnref n="2" />, Laura Samora Braga <fnref n="1" />,<fnref n="2" />, Amanda Melissa Moreira <fnref n="1" />,<fnref n="2" />

Abstract

**Case Presentation:** Newborn by cesarean at 37 weeks, with healthy and nonconsanguineous parents. Prenatal care with 8 consultations without intercurrences. Maternal serology non-reactive for Venereal Disease Research Laboratory (VDRL), Hepatitis B Surface Antigen (HBsAg) and Human Immunodeficiency Virus (HIV). At birth, he was a body length of 46cm, head circumference measured 33cm, a weight of 2455g, Apgar (Appearance, Pulse, Grimace, Activity and Respiration) 7/9, good muscle tone, presence of cleft lip, nasal hypoplasia, no crying, requiring room air resuscitation. During the placenta and amniotic fluid inspection, was noted an odor and color indicative of chorioamnionitis. Nine hours after childbirth, the baby had seizures with chewing and eye movements, in addition to upper and lower limb twitching. An attack dose of Phenobarbital - 20mg/kg was performed and Ampicillin 100mg/kg + Gentamicin 4mg/kg/day was started for 10 days for treatment of presumed neonatal sepsis. In addition, laboratory and imaging tests were requested (Hemoglobin: 15.6; Hematocrit: 44.1; Leukocyte Count: 19200; Platelet Count: 215000; Ca: 8.4; Mg: 1.58; K: 3.7; Na: 127; Capillary Blood Glucose: 120mg/dl; Chest X-ray: Cardiomegaly; Echocardiogram: Bulging of the interatrial septum towards the left ventricle, suggestive of interatrial septal aneurysm; Transfontanel USG: Hydranencephaly; Head CT: Hydranencephaly; USG abdomen: no changes). With these results, the patient was diagnosed with severe Hydranencephaly due to chorioamnionitis and a ventriculo-peritoneal shunt was placed. At the 2nd month, he was discharged from the hospital on continuous use of Phenobarbital - 5mg/kg /day, orogastric tube and proposed palliative care.

**Discussion:** Hydranencephaly is a central nervous system disorder that affects 1 in 10,000 children worldwide, characterized by complete or partial absence of the cerebral cortex and basal ganglia, with thalamus and brainstem preservation. The disease pathophysiology is unknown, however, it is

believed to be related to the presence of infectious processes,
such as chorioamnionitis, which generated an intrauterine
occlusion of the bilateral supraclinoidal internal carotid
arteries. In this sense, the brain tissue supplied by the anterior
circulation is reabsorbed.

*Final Comments:* This case reflects the importance of more detailed studies about Hydranencephaly, since it is a condition that is difficult to diagnose, with a high mortality rate and that requires specialized clinical and surgical treatments.

ID: 628

Area: Neurogenetics

Presentation method: Presentation
Poster

Marinesco-Sjögren syndrome: a case report

Rafaela Fernandes Dantas<fnref n="1" />⁺, Raquel Diógenes Alencar
Sindeaux<fnref n="1" />, Eric Oneda Sakai<fnref n="1" />, Clarice Semiao Coimbra<fnref n="1" />,
Nicholas dos Santos Barros<fnref n="1" />, Roberta Diniz de Almeida<fnref n="1" />, Ana
Cristina Azevedo Leão<fnref n="1" />, Clarissa Bueno<fnref n="1" />, Marco Antônio Veloso
de Albuquerque<fnref n="1" />

Abstract

**Case Presentation:** We describe a 9-year-old female child, referred to a tertiary medical center to investigate delay in neuropsychomotor development. Child born from a consanguineous couple, without any report of complications during the gestational and perinatal period. Since her first months of life, strabismus and nystagmus were observed. At 4 months of age, no cephalic support was observed, and presented delay in all posterior milestones, being able to walk with support at 2 years and since then, she did not develop independent gait so far. Neurological examination revealed microcephaly, dysmorphisms such as synophrys, small nose, high palate, flat feet, multidirectional nystagmus, bilateral convergent strabismus and dysarthria. Cerebellar gait, trunk-limb dyssenergy were part of global ataxia observed. During the first years of life, she presented global hypotonia but improved this symptom. Cataract was detected at 4 years of age. She also has learning difficulties, without acquiring the ability to read and write. Complementary exams showed an increase in CPK of 370 and magnetic resonance demonstrated volumetric reduction of cerebellar parenchyma, atrophic vermis, diffuse enlargement of the CSF spaces and posterior cranial fossa, as of fourth ventricle, and coexistence of T2-weighted and FLAIR signal of the cerebellar cortex. Initial investigation for recessive ataxias did not present additional information. New generation sequencing identified pathogenic variant in the SIL1 gene, in homozygosity.

**Discussion:** We aimed to describe a case report of Marinesco-Sjögren Syndrome. It is a rare autosomal recessive disease, included in ataxia recessive group. A few cases described in the literature, prevalence estimated is less than 1 per million people. The syndrome is characterized by cerebellar ataxia with cerebellar atrophy, dysarthria, nystagmus, early onset of cataracts, myopathy and muscle weakness, in addition to hypotonia. Additional findings also include delay in neuropsychomotor development, hypergonadotropic hypogonadism, short stature and skeletal abnormalities. Cataracts can develop quickly and usually require surgery in the first decade of life.

<footnote n="1">¹Faculdade Atenas, Sete Lagoas MG, Brazil.</footnote>

<footnote n="2">²Faculdade Santo Agostinho de Vitória da Conquista, Vitória da Conquista BA, Brazil.</footnote>

<footnote>*Correspondence: rita.cassia1410@hotmail.com.</footnote>

<footnote n="1">¹Universidade de São Paulo, Faculdade de Medicina, Hospital das Clínicas, São Paulo SP, Brazil.</footnote>

<footnote>*Correspondence: fernandesdantas.r@gmail.com.</footnote>
*Final Comments:* Diagnosis is concluded with detection of pathogenic variants in the SIL1 gene detected by molecular tests in homozygosity. Therapeutic management is primarily supportive and rehabilitative for neurological symptoms. Surgery may be required for cataracts, and hormone replacement therapy for hypothalamic-pituitary axis disorders.

ID: 631

Area: Neurogenetics

Presentation method: Eletronic Poster

De novo mutation in KMT2C and SETD1A manifesting as Kleefstra syndrome 2: case report and literature review

Nathaly Anne Gomes Vieira<fnref n="1" />,<fnref n="2" />, Eva Carolina Rocha Ramos<fnref n="1" />,<fnref n="2" />

Abstract

**Case Presentation:** We report a case of a White male child born in 2005, in São Paulo - Brazil. He was seen as an outpatient for the first time in 2020 due to recurrent seizures, self-injurious behavior and agitation. He is the first child of an uneventful pregnancy of healthy parents. Born at 9 months with Apgar score of 10. After birth, he had bouts of cyanosis and cow's milk protein allergy. At 1 year and 4 months old, he acquired a pulmonary infection and developed hives due to an allergic reaction to amoxicillin. He was hospitalized due to anaphylactic shock, bronchoaspiration and severe septicemia. He had been in a coma for 48 hours and when he woke-up he already had a squint and stopped talking. Diagnosis of hypoxic-ischemic encephalopathy was questioned. At age 3, he underwent inguinal hernia surgery. At the age of 11, generalized tonic-clonic seizures began, triggered every 2 or 3 months, with a frequency of 3 crises per month. Seizures were controlled with levetiracetam and valproic acid. At the same time, he developed self-injurious behavior, agitation, headache and insomnia. Behavioral symptoms were partially controlled with levomepromazine and did not respond to olanzapine, quetiapine, risperidone, aripiprazole or clonazepam. He had a past medical history of stomach ulcer, intestinal ulcerative colitis and inguinal hernia surgery. Family history was negative for neurologic disease, he has a healthy younger sister. An MRI of the head showed discrete signs of incomplete inversion, left hippocampal malrotation. CSF and lab tests were unremarkable. An exoma was performed that showed de novo mutations in the genes SETD1A and KMT2C, responsible for developmental delay, epilepsy and Kleefstra syndrome-2.

**Discussion:** Kleefstra syndrome (SF) is an autosomal dominant disease caused by EHMT1 haploinsufficiency, characterized by delay in neuropsychomotor development, intellectual disability and dysmorphic features. Although cases of KLEFS1 have been reported, the number of cases of KLEFS2 are rare in the literature. This study reports a case of KLEFS2, providing a narrative of clinical features, genetic test results, pharmacologic treatment, and long-term follow-up. Kleefstra 2 syndrome is a rare condition, and its diagnosis is difficult mainly due to the high clinical phenotypic heterogeneity.

*Final Comments:* We report a rare case of a young child with developmental delay, seizures and self-injurious behavior that was diagnosed with mutations in genes SETD1A and KMT2C genes compatible with Kleefstra 2 syndrome.

ID: 634

Area: Neurogenetics

Presentation method: Eletronic Poster

Walker-Warburg syndrome caused by mutations in POMT1 gene

Larissa de Carvalho Oliveira<fnref n="1" />*, Juliana Gurgel Giannetti<fnref n="1" />, Camila Cristiane Silva Camelo<fnref n="1" />, Lívia Uliana Jácome<fnref n="1" />, Fernanda Luz Teixeira<fnref n="1" />, Letícia Sauma Ferreira<fnref n="1" />, Mariana Braga Valadão<fnref n="1" />, Yuri Barcelos<fnref n="1" />

Abstract

**Case Presentation:** This case report refers to a male newborn at 39 weeks of gestational age, born from a non-consanguineous couple. The physical exam showed macrocrania, with occipital protuberance, wide anterior fontanel, diastasis of sutures, occipital encephalocele and buphthalmos. Ophthalmological evaluation confirmed congenital glaucoma and cataracts. At the neurological exam we observed reduced spontaneous movement associated with truncal hypotonia, appendicular hypertonia and abolished osteotendinous reflexes. Cranial tomography showed significant lissencephaly and hydrocephalus, probable corpus callosum agenesis, Dandy-Walker variant. Ventriculoperitoneal shunt was implanted on the third day of life due to symptomatic hydrocephalus. The patient presented refractory neonatal seizures related to brain malformation. He received a 20 mg/kg phenobarbital attack followed by maintenance of 5 mg/kg. The Levetiracetam was started due to poor seizure control and abnormalities in neonatal polygraphy. Karyotype by amniocentesis 46, XY and CK 4164 U/L. NGS panel neuromuscular diseases was performed and showed two heterozygous pathogenic mutations in the POMT1 gene.

**Discussion:** The POMT1 and POMT2 gene are part of the enzymatic complex of the protein O-mannosyltransferase (POMT), present in several tissues, especially in the skeletal striated muscles, brain and testes, where they act in the glycosylation of α-dystroglycan proteins, whose function is to stabilize and protect muscle fibers and direct neuron migration during early development. Mutations in the POMT1 gene are associated to three phenotypes: a severe form of muscular dystrophy (Walker-Warburg syndrome), a slightly less severe muscle-eye brain disease (MEB) and a limb girdle muscular dystrophy-dystroglycanopathy. The Walker-Warburg syndrome is characterized by type II lissencephaly, cerebellar and ocular abnormalities as observed in our patient.

*Final Comments:* The dystroglycanopathies are a group of rare and complex neuromuscular diseases that need to be considered in the differential diagnosis of patients with brain and eye malformation, being fundamental a careful neurological examination of these patients. The correct diagnosis is essential to organize the patient's multidisciplinary approach and to offer genetic counselling.

<footnote n="1">¹Universidade Federal de São Paulo, São Paulo SP, Brazil.</footnote>

<footnote n="2">²Universidade Nove de Julho, São Paulo SP, Brazil.</footnote>

<footnote>*Correspondence: nathaly.anastasio@gmail.com.</footnote>

<footnote n="1">¹Universidade Federal de Minas Gerais, Hospital das Clínicas, Belo Horizonte MG, Brazil.</footnote>

<footnote>*Correspondence: lahdecarvalho@gmail.com.</footnote>