ID: 805

Area: Others

Presentation method: Eletronic Poster

Postural control in a group of children and adolescents with autism spectrum disorder

Fiama Santos Jesus¹*, Bruna Bueno Arruda¹, Rosane Lowenthal¹, Ricardo Uchida¹, Rodolfo Borges Parreira¹, Tatiana Pontrelli Mecca¹

¹Santa Casa de São Paulo, Faculdade de Ciências Médicas, São Paulo SP, Brazil.

*Correspondence: fiamasantos092@gmail.com.

Abstract

**Background:** Previous studies indicate that people with Autis-
tic Spectrum Disorder (ASD) have impairments in postural
control compared to typical development. However, there are
few studies that compare the profile of postural control
between children and adolescents with the same diagnosis.

Objective: To verify if there are differences in measures of postural control between children and adolescents with ASD.

**Methods:** 46 people with ASD participated, 34 (73.9%) males, between 6 and 17 years old (M = 12.8, SD = 2.64), divided into three groups (6-9, 10-13 and 14-17 years old). A force platform (Triaxial Digital P-6000) was used at a frequency of 50 Hz. Postural control measurements were obtained in conditions with eyes open (OA) and closed (OF), with (CE) and without foam (SE), in a static and upright position for 30 seconds in each condition. Balance parameters were ana-lyzed, based on the center of pressure (COP), being the ellipse area, speed of oscillations and frequency of oscillations in the anteroposterior (AP) and mediolateral (ML) directions.

**Results:** There was no difference between groups, but a trend towards displacement in the M/L plane with increase age. In the A/P plane, there was a decrease in displacement with sensory interference. There is a tendency towards an increase in COP displacement speed in children aged ≤ 9 years. There was no standard on COP length. Vision influenced the main-tenance of postural control. With OA, there was greater displacement in the M/L and A/P plane, regardless of whether CE or SE, and this was followed by an increase in the COP displacement velocity (higher CE velocity). The length of the COP remained with OA or OF.

Conclusion: The maintenance of postural control seems to suffer more impact when vision is altered than with age, indicating that there is no improvement in postural control with age in this group. There is greater displacement of the groups, with or without foam, indicating less postural control.

ID: 806

Area: Neurogenetics

Presentation method: Eletronic Poster

DiGeorge syndrome, a rare disorder, followed by uncommon structural epilepsy: a case report

Priscila Martins Câmara¹*, Pedro Guilherme Barros Tavares¹,
Débora dos Santos Mendes¹, Tiago Rocha Araújo¹, Henrique
Innocencio de Paula¹, Lisiane Seguti¹, Jeanne Mazza¹

¹Hospital Universitário de Brasília, Brasília DF, Brazil.

*Correspondence: priscilacamar@hotmail.com.

Abstract

**Case Presentation:** A 2-years-and-11- month-old-boy, who was born with DiGeorge syndrome (deletions in chromosome 22q11.2) and Tetralogy of Fallot associated with a valvar pulmonary stenosis, presented to us with a history of tonic- clonic seizures, a upper motor neuron syndrome and im- paired communication and social skills. In the past, our patient underwent an open-heart surgery and, at the imme- diate postoperative period, he had a cardiac arrest that lasted 28 minutes, followed by another episode lasting 4 minutes. Still in the same hospitalization, he presented with seizures that started as focal tonic-clonic and evolved to bilateral tonic- clonic seizures. Later on, he performed a head tomography and MRI imaging that showed ventricular dilatation, an arachnoid cyst and a subdural fluid collection.

**Discussion:** There are 5 possible etiologies for epilepsy syn-
dromes, according to ILAE (International League Against
Epilepsy), many are due to congenital factors and others
are acquired throughout life. In both cases, we have structural
etiologies being present, with acquired ones in the second
place of incidence. Within this spectrum, lesions with mass
effect, like subdural fluid collections, can cause convulsive
effects, as well as arachnoid cysts, but with a lower preva-
lence. There have already been other reports of the associa-
tion of these 2 lesions in children, some of them described
patients that evolved with seizures. One of the underlying
diseases of the patient, DiGeorge syndrome, can also cause
metabolic seizures in its carriers.

**Final Comments:** Our patient, with a rare syndrome, devel-
oped an association of 2 imaging findings of cerebellar
tumors, which count as another rare finding when taken
together. The report aims to show an uncommon genetic
disease, and its clinical features, associated with structural
epilepsy.

ID: 807

Area: Inborn errors of metabolism

Presentation method: Eletronic Poster

McArdle's disease: case report

Sofia Russi¹, Maria Mariana Muniz Jorge de Melo¹, Jéssica Kayene Souza Ferreira¹, Ana Paula Bastos Nogueira de Luca¹, Maria Lina Giacomino de Almeida Passos e Azevedo¹, Fernanda dos Santos Ribeiro¹, Amanda Regina Farias Teixeiras¹, Patricia Selestrini, Flávia Nardes dos Santos¹

¹Instituto de Puericultura e Pediatria Martagão Gesteira, Rio de Janeiro RJ, Brazil.

*Correspondence: sofiarussi06@gmail.com.

Abstract

**Case Presentation:** Female schoolchild, daughter of a non-consanguineous couple, without relevant prenatal history, with normal neuropsychomotor development. She presents recurrent clinical picture of fatigue on medium and great efforts since early childhood. At 8 years old, develops an urticarial rash and angioedema of the eyelids and lips, evolving with edema of the lower limbs up to the ankle, pain and difficulty to walk, requiring hospitalization, where an increase in CK (34.027 IU/L) and CK-MB (1298 IU/L) was seen, in addition to positive RT-PCR Covid. She was hospitalized for 5 days for venous hydration and was discharged asymptomatic. Sporadically complained of diffuse pain and fatigue in the upper and lower limbs after moderate to intense physical exertion, which improved with rest. After 2 years, was admitted again for cervicalgia and diffuse pain in
the upper limbs with edema of the biceps muscles and increased TGO, TGP, LDH, and CK. After the second episode, she sought treatment from a rheumatologist, who showed an increase in CPK and excluded rheumatologic causes for the muscular crises. Currently, at the age of 10, maintains fatigue after physical exercise, with no limitation to daily activities and a normal intercrisis neurological physical examination. Given the clinical picture, a genetic panel was requested, and a pathogenic variant was found in homozygosity in the PYGM- McArdle's disease gene.

**Discussion:** McArdle's disease (glycogenase type V - GSD) is characterized by complete deficiency/absence of the enzyme myophosphorylase, autosomal recessive origin caused by mutations in the PYGM gene. First symptoms occur in childhood and manifest with exercise intolerance, cramps, fatigue, and muscle weakness. A phenomenon known as 'second wind' is observed in many patients with relief of myalgia and fatigue after few minutes of rest. This clinical picture is usually standard, but some patients may manifest moderate or severe forms, with rhabdomyolysis and myoglobinuria. The diagnosis is made by muscle biopsy, showing deficiency of myophosphorylase activity, or by genetic testing.

**Final Comments:** The report of this case intends to make known a rare disease and alerts to the importance of the appreciation of certain complaints, even if nonspecific, they should be better explored. Unfortunately, there is no established treatment, in general, the recommendation is a diet rich in carbohydrates and low in fats, in addition to orienting the performance of less intense exercises with little load.

ID: 809

Area: Others

Presentation method: Presentation
Poster

Vogt Konayagi Harada syndrome in an 8-year-old patient

Camila Guimaraes Parrela<fnref n="1" />, Rafael Lima<fnref n="1" />, Fernanda Wagner Fredo<fnref n="1" />, Danielle Caldas Bufara<fnref n="1" />, Kathielen Fortes Rosler<fnref n="1" />, Jamile Bonini Hadaya<fnref n="1" />, Leticia Pugim Ferreira<fnref n="1" />, Natalia Clarice Vargas<fnref n="1" />, Maytza Maindra Correa<fnref n="1" />

*Correspondence: rafael.lima.dr@gmail.com.

Abstract

**Case Presentation:** An 8-year-old male patient. He was born via cesarean section due to preeclampsia at 37 weeks without perinatal complications. At 3 months of age, he started experiencing focal epilepsy. He exhibited delayed neuropsychomotor development, sitting without support at 11 months, walking at 1 year and 6 months, and speaking simple phrases at 2 years. At the age of 5, he developed bilateral ocular hyperemia without a history of ocular trauma. Initially treated as conjunctivitis, with no improvement. After 6 months, glaucoma and uveitis were identified, leading to bilateral amaurosis. During the same period, the mother noticed the appearance of diffuse hypochromic patches, mainly on the upper and lower limbs. These patches were painless, non-pruritic, and showed no growth or worsening of appearance. The patient's mother also reported low auditory acuity and frequent headaches, with no other signs of meningism. Cranial magnetic resonance imaging revealed signs of bilateral hippocampal malrotation, as well as some FLAIR hyperintensity foci in the white matter of the cerebral

hemispheres, which were nonspecific and could represent gliosis and/or chronic vascular changes.

**Discussion:** Vogt-Koyanagi-Harada syndrome is a rare, multi-systemic inflammatory disease (representing 2.5% of uveitis cases in Brazil) with an autoimmune etiology targeting proteins of melanocyte membranes. It affects pigmentary structures such as the retina, meninges, inner ear, skin, and central nervous system. It predominantly affects women in their fourth decade of life (median age of 34 years) with dark or mixed skin. The syndrome is characterized by bilateral panuveitis, accompanied by neuroaditive findings that may be temporary, and dermatological manifestations occurring after the onset of ocular or neural involvement.

**Final Comments:** The occurrence of Vogt-Koyanagi-Harada syndrome is rare, especially in males and in childhood. In this case, the patient presents cerebral malformation with epilepsy, which are not well-described diagnostic criteria but may be related to the syndrome and its pathophysiology. Given the peculiarity and rarity of this case, we consider this report to be relevant.

ID: 811

Area: Inborn errors of metabolism

Presentation method: Presentation
Poster

Impact of acetazolamide on congenital disorder of
glycosylation type 1A: a case report

Sergio Antonio Antoniuk<fnref n="1" />, Rafael Lima de Almeida<fnref n="1" />*, Camila Guimarães Parrela<fnref n="1" />, Kathielen Fortes Rösler<fnref n="1" />, Maytza Mayndra Correa<fnref n="1" />, Jamile Bonini Hadaya<fnref n="1" />, Leticia Pugim Ferreira<fnref n="1" />, Danielle Caldas Bufara<fnref n="1" />, Natália Clarice Meneghel Vargas<fnref n="1" />

*Correspondence: rafael.lima.dr@gmail.com.

Abstract

**Case Presentation:** Female patient, 11 months old, presented with delayed motor development. The patient was born at 37 weeks' gestational age as part of a twin pregnancy. At birth, the patient had mild hypotonia, whereas her twin sister was unremarkable. There was no significant family history. Examination revealed little visual attention with nystagmus and generalized hypotonia, particularly axial. She was unable to sit without support, crawl, or roll over with ease, and exhibited impaired fine motor coordination with slight intentional tremors. Normal deep reflexes were present, while the defense (parachute) reflex was absent. In a Denver model evaluation, the patient displayed a developmental delay of approximately four to six months. An electroencephalogram showed normal findings, while a cranial magnetic resonance imaging showed cerebellar hypoplasia and atrophy. Exome sequencing revealed two pathogenic variants of the PMM2 gene, responsible for congenital disorder of glycosylation type 1A inherited in a recessive pattern. The patient underwent cognitive stimulation through the Denver model, as well as speech therapy, occupational therapy, and physiotherapy. Additionally, acetazolamide was initiated. At two years and three months old, the patient had improved in all areas, particularly after starting acetazolamide. However, she still exhibited trunk hypotonia and difficulty with fine motor coordination, although she was able to sit without support and stand with support from a lying position.

**Discussion:** Congenital disorders of glycosylation are characterized by defective glycosylation of proteins and lipids,

<footnote n="1">¹Universidade Federal do Paraná, Hospital de Clínicas, Curitiba PR, Brazil.</footnote>

<footnote n="1">¹Universidade Federal do Paraná, Hospital de Clínicas, Curitiba PR, Brazil.</footnote>
which can cause malfunctions in all systems. The most common defect arises from a mutation in the PMM2 gene. The disease has a heterogeneous clinical presentation, with neurological manifestations being the most common, including intellectual disability, cerebellar dysfunction, and hypotonia. Currently, there are few treatment options for this disease, but acetazolamide has been shown to reduce cerebellar dysfunction.

**Final Comments:** Congenital disorder of glycosylation type 1A is a relatively rare disorder with a poor prognosis, and there are few validated treatment options available. However, this case demonstrates a good response to acetazolamide, which should be used in conjunction with other therapies under study.

ID: 813

Area: Epilepsies

Presentation method: Presentation Poster

Ketogenic diet for the treatment of refractory epilepsy in a tertiary center in Northeast Brazil

Tatheane Couto de Vasconcelos<fnref n="1" />, Pedro Luiz Lopes<fnref n="2" />, Angela Rodrigues Gifoni<fnref n="1" />, Manoel Alves Sobreira Neto<fnref n="2" />, Mariana Braatz Krueger<fnref n="1" />, Thais de Maria Frota Vasconcelos<fnref n="1" />, Maria Isabel Santos de Norões Ramos<fnref n="1" />, Liandra Rayanne de Sousa Barbosa<fnref n="2" />, Andressa Alencar Araujo Maia<fnref n="2" />

Abstract

**Background:** The estimated prevalence of epilepsy is 0.5% - 1% in the global population, with 80% of these individuals living in developing countries where financial resources are generally limited. Approximately 30% of epilepsy patients have shown refractory to adequate drug treatment, requiring the use of alternative treatments such as the ketogenic diet (KD). Therefore, it is important to assess the feasibility of using this type of diet in regions and patients with limited resources.

**Objective:** To evaluate adherence, therapeutic response and clinical-epidemiological profile of patients with refractory epilepsy undergoing KD in a tertiary center in northeastern Brazil.

**Methods:** A retrospective cross-sectional study was conducted on 32 patients with refractory epilepsy who were followed from June 2020 to December 2022 at the Refractory Epilepsy Outpatient Clinic in northeastern Brazil. Variables analyzed included age, clinical response to the ketogenic diet seizure types, quantity and doses of anti-seizure medications used, route of administration, adherence and adverse effects. The study was approved by the local research ethics under the number number: 65145922.1.0000.5042.

**Results:** Forty-three patients were recommended for the KD, of whom 32 initiated the therapy. The majority of patients were female (59.3%), from small town (56.3%), with ages from 3 months to 17 years. Structural (40.6%) and genetic (37.5%) etiologies were the most prevalent and 34% of the sample were using gastrostomy. The frequency of epileptic seizures reduced by at least 50% in most patients (71.9%), and among them, 25% achieved complete seizure control. There was an improvement in neurodevelopmental outcomes (62.2%), reduction in the number of antiepileptic drugs used (25%), as well as in the dosage (50%) administered to the patients. Adherence to the KD was observed in a significant percentage

of the sample (71.9%), and adverse effects were present in the minority of cases (28,1%).

**Conclusion:** The KD is a therapeutic strategy for patients with refractory epilepsy, especially for those who are not candidates for surgical treatment, particularly in children. Patients undergoing the KD showed good adherence, low frequency of adverse effects, absence of serious adverse effects, reduction in seizure frequency, and improvement in neurodevelopmental outcomes, even in a tertiary center with limited financial resources in northeastern Brazil.

ID: 815

Area: Neuromuscular diseases

Presentation method: Eletronic Poster

Autism spectrum disorders and others neuropsychiatric conditions in Duchenne muscular dystrophy

Cristiani Rocha Lima Cruz<fnref n="1" />, Joemir Jábson Conceição Brito<fnref n="1" />*, Mariana Piva da Costa<fnref n="1" />, Ana Beatriz Arruda Carvalho Oliveira<fnref n="1" />, Renata Silva Mendonça<fnref n="1" />, Daniel Shoji Hayashi<fnref n="1" />, Karla Danielle Ferreira Lima<fnref n="1" />, Marco Antonio Veloso Albuquerque<fnref n="1" />, Edmar Zanoteli<fnref n="1" />

Abstract

**Background:** Duchenne muscular dystrophy (DMD) is not just a muscle disorder, but also a disease that affects the brain. The literature shows that about 30-40% of DMD subjects have intellectual disability, however the real prevalence and intensity of Autism Spectrum Disorders (ASD) and other neuropsychiatric disorders is not completely elucidated.

**Objective:** Investigate the prevalence of Autism Spectrum Disorders (ASD), Attention Deficit Hyperactivity Disorder (ADHD) and Oppositional Defiant Disorder (ODD) in patients with DMD and explore underlying genotype-phenotype associations.

**Methods:** A retrospective study based on the analysis medical records and genetic results of 148 DMD cases followed at the neuromuscular outpatient clinic in Brazil. The following parameters were analyzed: Age, type and location of genetic mutation and presence of neuropsychiatric disorders.

**Results:** The mean age ranged from 1 to 23 years. In 9/148 (6.1%) Autism Spectrum Disorder was identified, in 13/148 (8.8%) attention deficit hyperactivity disorder (ADHD) and 2/148 (1.3%) oppositional defiant disorder (ODD) was found. In addition, 5/9 patients with ASD have mutations localized between exons 45 and 75 (55%) and 7/13 patients with ADHD have mutations localized between exons 45 and 75 (53%).

**Conclusion:** Previous studies have shown a prevalence of 6 to 20% of ASD and ADHD in dystrophinopathies similar to the current study. The short brain-expressed isoforms, Dp140 and Dp71, have been more associated with neurocognitive phenotype. In our study, the presence of ASD or ADHD was found when mutations are localized at the end of the DMD gene. Moreover, in some ASD patients, atypical behaviors were more important than muscular weakness. It is important for clinical practice to consider this association, in order not to delay the diagnosis of DMD.

<footnote n="1">¹Hospital Infantil Albert Sabin, Fortaleza CE, Brazil.</footnote>

<footnote n="2">²Hospital Universitário Walter Cantídio, Fortaleza CE, Brazil.</footnote>

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

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

<footnote>*Correspondence: jjjabson82@gmail.com.</footnote>
ID: 816

# Area: Cerebrovascular diseases and intensive care in child neurology

## Presentation method: Eletronic Poster

### Alagille syndrome and Moyamoya vasculopathy: a pattern that cannot be forgotten

Mateus Pradebon Tolentino<fnref n="1" />, Felipe Arthur de Almeida Jorge<fnref n="1" />, Louise Scridelli Tavares<fnref n="1" />, Bryan da Silva Marques Cajado<fnref n="1" />, Thais dos Santos Rohde<fnref n="1" />, Alulín Tácio Quadros Santos Monteiro Fonseca<fnref n="1" />, Marcelo de Melo Aragão<fnref n="1" />, Ricardo Silva Pinho<fnref n="1" />

### Abstract

**Case Presentation:** A 2-year-old girl presented at our hospital with sudden onset of left hemiparesis after a cardiac intervention. She had dysmorphic face with broad forehead, deep-set eyes, prominent ears and pointed chin. She already had the diagnosis of Tetralogy of Fallot and was submitted to liver transplantation at 1 year old due to cholestasis since birth. Hepatic biopsy showed paucity of biliary ducts. A brain CT demonstrated an acute stroke in right internal capsule. Four months after, an MRI angiography showed new stroke in the right middle and inferior frontal gyri and irregularities with focal narrowing in the middle/distal third in right M1 and A1 segment and recruitment of multiple vascular structures with perforating collateralization. This pattern is compatible with unilateral moyamoya syndrome (MMS). Considering typical findings (heart malformation, liver failure, dysmorphic face) associated with vascular involvement, Alagille's Syndrome (AS) was diagnosed.

**Discussion:** AS is an multisystemic autosomal dominant condition with a wide spectrum of clinical manifestations characterized for dysmorphic facial features, posterior embryotoxon, axial skeletal defects, pulmonary arterial hypoplasia and intrahepatic cholestasis with paucity of biliary ducts. Cerebrovascular vasculopathy is reported in 10% of patients, including aneurisms, dolichoectasia and MMS. The disease is caused by mutation on JAG1 (97% of cases) and NOTCH2 genes. Both participates in angiogenesis pathways modulating vascular development. MMS is an intracranial arteriopathy that causes progressive narrowing of distal parts of internal carotid artery and its branches with compensatory dilatation of smaller branches forward and collateral recruitment. It is a rare finding, being reported a few times associated with AS, with both unilateral and bilateral patterns. The diagnosis of AS is established by liver biopsy, presence of classical symptoms or genetic test. The treatment is directed to the affected organ and requires a multidisciplinary follow up. For cerebrovascular disease, there are reports of anti-platelet drugs and revascularization.

**Final Comments:** AS is a rare condition with multisystem nature and potential severity. It should be remembered as a cause of stroke, both ischemic and hemorrhagic. Besides cardiac involvement, MMS is a rare condition that cannot be forgotten. The diagnosis is important for patient follow-up, risk stratification and prognosis.

ID: 817

## Area: Neurological manifestations of systemic diseases

## Presentation method: Presentation Poster

### Congenital cutis marmorata telangiectatica: a case report

Claudia Ambrosio Polloni<fnref n="1" />, Lucas Brito Costa<fnref n="1" />, Daniel Servigia Domingos<fnref n="1" />, Maria Carolina Viana Brito<fnref n="1" />, Catarina Doce Machado<fnref n="1" />, Lais Miranda Balseiro<fnref n="1" />, Luiza Cusinato<fnref n="1" />

### Abstract

**Case Presentation:** A young male, 11 years old, with moderate cognitive deficit not investigated, presented generalized tonic-clonic epileptic seizure followed by loss of muscle strength on the left. On examination, the patient presented left complete hemiplegia, drowsiness, dysarthria and mental confusion. From birth, he presented disseminated erythema, asymmetrical, without elevation or atrophy, which disappeared the digit pressure and asymmetry of the lower limbs. Had a Tomography scan without evidence of ischemia. Electroencephalogram showed right frontotemporal focal status epilepticus and disorganized base activity with excess of slow waves on the right. Antiepileptic drug treatment with seizure control, improvement of electroencephalographic tracing and complete recovery of muscle strength was initiated. Cranial resonance showed cortical asymmetry and periventricular heterotopias. Ophthalmologic examination showed detachment of the left retina. After dermatological and genetic investigation, the patient was diagnosed with congenital Cutis marmorata telangiectatica and identified mutation in the GNA11 gene in skin biopsy.

**Discussion:** Cutis marmorata telangiectatica congenita (CMTC) is a rare capillary malformation described as a persistent reticulated marbled violaceous erythema that lightens with pressure and does not resolve with heating. To date, about 300 cases have been reported. Both genders are equally affected. More than 50% of patients have associated skin or extracutaneous abnormalities such as limb asymmetry, vascular lesions, psychomotor delay, seizures, and hypotonia, ocular abnormalities (retinal detachment and glaucoma), syndactyly, and macrocephaly. More recent studies have identified mutations in GNA11 in skin biopsies of affected skin areas, however, the diagnosis is still clinical. The persistence of skin changes with heating distinguishes CMTC from physiological cutis marmorata.

**Final Comments:** CMTC is a relatively benign disease, however, healthcare professionals should be aware of the associated anomalies, which can have serious consequences if left unrecognized and not treated. Further studies should shed light on whether molecular genetics should be part of the diagnostic process in the future. The marbled erythema characteristic of CMTC can also be seen in other more serious conditions that require different therapeutic approaches, such as Klippel-Trenaunay syndrome and Sturge-Weber syndrome, which underscores the importance of correct diagnosis.

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

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

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

<footnote>*Correspondence: claupolloni@gmail.com.</footnote>
ID: 818

Area: Epilepsies

Presentation method: Eletronic Poster

Treatments for temporal lobe epilepsy in children: a
literature review

Caio Araujo de Souza¹, Beatriz Picanço Bezerra de Menezes
Costa¹, Gisele Fernandes de Sena¹, Júlia Stein Saleme¹, Leonam
de Freitas Azevedo Loureiro¹, Leonardo Pereira Levada¹*,
Maryana Caetano da Silva de Oliveira¹, Marcela Rodríguez de
Freitas¹

¹Universidade Federal Fluminense, Faculdade de Medicina, Hospital Universitário Antônio Pedro, Niterói RJ, Brazil.

*Correspondence: leonardolevada@id.uff.br.

Abstract

**Background:** The Temporal Lobe Epilepsy (TLE) is one of the most common and challenging forms of focal epilepsy during both childhood and adulthood. The clinical presentation of TLE is heterogeneous and, sometimes, the pharmacotherapy plays a limited effect on its control. Facing its importance and prevalence among children, neurologists and neurosurgeons are coming up with new treatments for TLE.

**Objective:** Verify the current treatments for temporal lobe epilepsy in children in the last 5 years.

**Methods:** This study is a literature review based on the Preferred Reporting Items for Systematic Reviews and Meta-Analyses - PRISMA. The databases used were Scientific Electronic Library Online (SciELO), Latin American and Caribbean Literature (Lilacs) and PubMed. The descriptors were: "temporal lobe epilepsy", "children" and "treatment", using the Boolean operator AND in all databases. Inclusion criteria were systematic and literature reviews, meta-analyses and randomized clinical trials, published between 2018 and 2023 in English and Portuguese, with free full text, covering the pediatric population, and meeting the study objective. Exclusion criteria were book chapters, case reports, duplicate abstracts, and studies with only adults.

**Results:** 21 articles were found, and only 9 were selected after screening. The incidence and etiology of TLE in different cohorts of children have been infrequently studied. In a large group of children with TLE, there is little evidence of an initial precipitating brain injury, and, sometimes, they respond well to antiepileptic drug (AED) treatment, which spots a possible benign form of TLE. The treatment for refractory cases may involve surgical approaches such as mesial temporal resection and extratemporal cortical resection. The operation success depends highly on factors such as etiology and presence of a discernible lesion. Children with left mesial temporal resections may have postoperative declines in verbal memory, while those with extra-mesial resections do not. Children's response to antiepileptic drugs varies according to the severity of the disease. Epilepsy surgery is a useful but underutilized approach to refractory pediatric epilepsy, and can consist in potentially curative operations that can be performed to disconnect the epileptogenic zone.

**Conclusion:** Memory impairments are the most frequent con-
sequences in surgery treatment involving the mesial approach

ID: 819

Area: Neuroinfections

Presentation method: Presentation
Poster

Neurological manifestations in children with congenital
Zika

Paulo Henrique Alves da Costa¹, Beatriz Picanço Bezerra de Menezes Costa¹, Júlia de Souza Castro¹, Leonardo Pereira Levada¹, Sofia Gameiro de Souza¹, Marcela Rodríguez de Freitas¹

¹Universidade Federal Fluminense, Faculdade de Medicina, Hospital Universitário Antônio Pedro, Niterói RJ, Brazil.

*Correspondence: leonardolevada@id.uff.br.*

Abstract

**Background:** Zika is an arbovirus that emerged in Uganda in 1947. In 2015-2016, the World Health Organization declared the explosion in ZIKV infection associated with microcephaly in South America as a Public Health Emergency of International Concern. The congenital epidemic was due to the virus teratogenicity and tropism for fetal neural tissue that harms the developing brain causing different central nervous system lesions.

**Objective:** Analyze reported neurological manifestations in children with congenital Zika.

**Methods:** This study is a literature review based on the Preferred Reporting Items for Systematic Reviews and Meta-Analyses - PRISMA methodological recommendations. The databases used were Scientific Electronic Library Online (SciELO), Latin American and Caribbean Literature (Lilacs) and PubMed. The search descriptors, used with the Boolean operator AND in all databases, were "congenital", "Zika virus" and "neurology". Inclusion criteria consisted of original articles, systematic and literature reviews, meta-analyses, randomized clinical trials, published between 2015 and 2023 in English and Portuguese, covering the pediatric population and meeting the study objective. Exclusion criteria included book chapters, case reports, duplicate abstracts, and studies that involved only the adult population.

**Results:** 28 articles were found, and 13 were selected after screening. The potential neurological malformations caused by Congenital Zika Syndrome (CZS), such as microcephaly and brain calcifications, imply clinical manifestations. During the first year of life, the pyramidal signs are dominant: among 83 infants, hypertonia had the prevalence of 75%, spasticity 17% and hyperreflexia 21%. In the second year, extrapyramidal manifestations, such as dystonic and dyskinetic movements, stand out, with a prevalence of 95.2% in 32 patients. Dysphagia (14.6% of 48 cases) and ocular findings (44.3% of 244 infants) were also present. Higher neurological function deficits are reflected by irritability (85% of 48 infants), minimal contact with the environment and abnormally weak responses to stimuli. Epilepsy was detected in 67% of 141 cases. Hypotonia and weakness were also documented.

**Conclusion:** The CZS showed a high potential to lead to neurological disorders, whose severe clinical manifestations compromise the adequate development of neurological abilities and the infant's wellbeing
ID: 820

# Area: Neuroimmunology, multiple sclerosis and other demyelinating diseases

## Presentation method: Eletronic Poster

### A flames-like presentation in a young child: an uncommon MOG associated disease phenotype

Ana Beatriz Arruda Carvalho de Oliveira<fnref n="1" />*, Cristiani Rocha Lima Cruz<fnref n="1" />, Larissa Baccoli de Souza<fnref n="1" />, Flora Cruz de Almeida Ximenes<fnref n="1" />, Daniel Shoji Hayashi<fnref n="1" />, Renata Silva de Mendonça<fnref n="1" />, Murillo Bruno Braz Barbosa<fnref n="1" />, Daiane Maryane Cardoso Santos<fnref n="1" />, Renata Barbosa Paolilo<fnref n="1" />

### Abstract

**Case Presentation:** A previously healthy 4-year-old bolivian girl presented to our hospital with right-sided weakness and ipsilateral ataxia, preceded by 3 days of acute headache and mild lethargy. Two weeks before she had had flu-like symptoms. Parents denied seizures or fever. Brain MRI with gadolinium showed left superior frontal gyrus and periorlandic area hyperintensity on T2-FLAIR, without overlying leptomeningeal enhancement. Electroencephalography showed anterior left frontal disorganization without epileptiform activity. Serologies were negative. Lumbar puncture revealed normal parameters, including no CSF-specific oligoclonal bands (OCB). With suspicion of a possible demyelinating event, MOG-IgG was tested and came positive. Intravenous methylprednisolone 30 mg/kg daily was started for 5 days, with complete clinical recovery. In the last follow-up she was asymptomatic, without immunotherapy of maintenance and 6-month-follow up brain MRI disclosed only a subtle left frontal cortical hyperintensity.

**Discussion:** Unilateral cortical FLAIR-hyperintense lesions anti-MOG-associated encephalitis with seizures (FLAMES) is a rare anti-MOG phenotype first described in 2017 and observed in young adult patients. Key clinical features include seizures (85%), headache (70%), fever (65%) and cortical symptoms referable to the FLAIR hyperintense location (55%) and 95% subjects satisfied at least two findings, like our patient, although she remained seizure-free. At present, none of the reviewed patients in literature with anti-MOG antibody negative presented FLAMES. CSF usually discloses pleocytosis and negative OCB. Although initially described as a unilateral cortical encephalitis, bilateral cortical involvement and possible meningeal inflammation cited may reflect a broader disease spectrum. The syndrome is highly steroid-responsive and the majority of cases showed a full recovery with IVMP, so early identification will lead to prompt treatment.

**Final Comments:** We described a case similar to FLAMES, a rare presentation of anti-MOG disease. Improved awareness about it is fundamental to guarantee correct diagnosis and institution of immunotherapy, particularly in more severe cases.

ID: 825

# Area: Neuromuscular diseases

## Presentation method: Eletronic Poster

### COL12A1: a diagnostic challenge

Raquel Diógenes Alencar Sindeaux<fnref n="1" />*, Clara Gontijo Camelo<fnref n="1" />, Cristiane Araújo Martins Moreno<fnref n="1" />, Ana Lucila Moreira<fnref n="1" />, Edmar Zanoteli<fnref n="1" />

### Abstract

**Case Presentation:** Male, 30 months old patient, is the second child from a non-consanguineous couple. Prenatal care was complete, and mother reported good intrauterine movement. Delivery was uneventful. The child sat without support at 6 months and walked without support at 11 months. Frequent falls and difficulty running have been observed. On examination, he had mild hypotonia, flat feet, genu valgum and walked with increased medial rotation of the legs. Mother reported that she always had a similar gait pattern and had never been athletic. Boy's serum creatine kinase was slightly elevated (530). Muscle ultrasound was performed on boy and his mother, both showed mild hyperechogenicity without atrophy only in the posterior region of the thigh. Gene panel by next generation sequencing was performed on boy and identified a heterozygous variant of uncertain significance (VUS) in the COL12A1 gene (chr6:75.121.390C>T:p.Ser2333-Asn), not previously reported. Segregation analysis revealed that the variant segregated in his mother. Cases were discussed in collaboration with NIH, which reported a child with the same phenotype, same ultrasound presentation and an immunocytochemical analysis of dermal fibroblasts that showed prominent reduction of the collagen XII matrix. This child had a VUS (p.Ile2334Thr) in COL12A1 gene.

**Discussion:** COL12A1 is a large gene, which encodes the alpha chain type XII collagen family that interacts with other extracellular matrix proteins. There are few described pathogenic variants that may lead to Collagen XII related disorders (COL12-RD) and inheritance pattern may be either autosomal dominant or recessive. COL12-RD presents an overlap syndrome involving muscle and connective tissue. The phenotype includes mild hypotonia, limbs deformities, Myopathic Ehlers-Danlos Syndrome, Bethlem Myopathy 2 and Ullrich congenital muscular dystrophy-2. Our cases have clinical signs and complementary exams compatible with COL12-RD and clinical discussion with other specialists reported another child with the same presentation and a close missense variant. Although VUS should be evaluated carefully, these informations support COL12-RD diagnosis.

**Final Comments:** The limited number of patients with pathogenic COL12A1 variants described to date and the broad phenotype makes COL12-RD diagnosis complex. The importance of this report is to draw attention to the need for exchanging information between specialists in the face of a VUS finding, especially when dealing with rare diseases such as COL12-RD.

ID: 827

# Area: Neonatal neurology

## Presentation method: Presentation Poster

### Remote brain monitoring in high-risk newborns: a telehealth company six-year experience

Gabriel Fernando Todeschi Variane<fnref n="1" />,², Danieli Mayumi Kimura Leandro<fnref n="1" />,²*, Rafaela Fabri Rodrigues Pietrobom<fnref n="1" />,²,³, Alexandre Netto², Maurício Magalhães<fnref n="1" />,²,³, Marcelo Jenné Mimica²,³, Sophia Lenzi Fogo², Paula Natale Girotto²,⁴, Leticia Brito

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

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

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

<footnote>*Correspondence: quel_alencar13@hotmail.com.</footnote>
Sampaio²,⁵

¹Irmandade da Santa Casa de Misericórdia de São Paulo, Departamento de Pediatria, Divisão de Neonatologia, São Paulo SP, Brazil.

²Instituto Protegendo Cérebros Salvando Futuros, Departamento de Pesquisa Clínica, São Paulo SP, Brazil.

³Santa Casa de São Paulo, Faculdade de Ciências Médicas, São Paulo SP, Brazil.

⁴Associação Paulista para o Desenvolvimento da Medicina, Hospital de Transplantes Euryclides de Jesus Zerbini, Departamento de Neurocirurgia, São Paulo SP, Brazil.

⁵Universidade de São Paulo, Instituto da Criança, Faculdade de Medicina, Hospital das Clínicas, Departamento de Neurologia Pediátrica, São Paulo SP, Brazil.

*Correspondence: danieli.kimura@pbsf.com.br.

**Abstract**

**Background:** High-risk newborns (NB) are at high risk of developing severe neurological sequels. Amplitude-integrated electroencephalography (aEEG) is a non-invasive, simplified method of continuous bedside brain monitoring that allows assessment of brain activity in real-time. However, the accuracy of aEEG evaluation varies according to the experience of the evaluator. With the advance of telemedicine, the implementation of remote systems with capacity to interact 24 hours/day, 365 days/year, can provide specialized assistance to the bedside physician, allowing more quick and assertive management of high-risk infants.

**Objective:** To characterize high-risk NBs monitored with video-aEEG/EEG and describe electroencephalographic findings during neuromonitoring.

**Methods:** Retrospective observational study including the data of all NBs monitored with video-aEEG/EEG between July 2017 to May 2023 by a private company in Brazil. A descriptive analysis was performed and the data were presented according to absolute number and relative frequency.

**Results:** A total of 8,214 high-risk NBs were monitored with video-aEEG/EEG using the tele-based monitoring system in 68 public, private, and public/private hospitals in Brazil, totaling 519,222 hours of monitoring and 86,537 interactions between the remote monitoring center and the hospital. The most common indications for monitoring were suspected seizures (24%), moderate or severe hypoxic-ischemic encephalopathy (HIE) with criteria for therapeutic hypothermia (17%), mild HIE (14%), extreme prematurity (9%), previous diagnosis of seizures (9%) and hemodynamic/ventilatory instability (9%). 6,242 (76%) newborns had pathological background activity pattern on video-aEEG/EEG and the sleep-wake cycling was absent in 3,778 (46%). Seizures were observed in 1,642 (20%), of which 1,166 (71%) were electrographic only, 312 (19%) electroclinical followed by electrographic only and 164 (10%) were clinical. Seizure control was obtained by only one antiepileptic drug (AED) in 903 (55%) of the cases and phenobarbital was the first drug of choice in 94% of the cases.

**Conclusion:** Most of the infants had pathological background activity during neuromonitoring and the majority of seizures were electrographic only, emphasizing the importance of neuromonitoring in high-risk NBs, which may significantly increase the accuracy of AED administration.

ID: 828

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

**Presentation method: Presentation Poster**

**COVID-19 in children and adolescents with neuroimmunological disorders: preliminary data**

Ingrid Lacerda Pessoa¹*, Ana Cristina Azevedo Leão¹, Roberta Diniz de Almeida¹, Renata Barbosa Paolilo¹

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

*Correspondence: ingridlacerda.pessoa@gmail.com.

**Abstract**

**Background:** The understanding of COVID-19 impacts on children with neuroimmunological diseases remains limited. Moreover, despite the progress in vaccinating the pediatric population, the safety and efficacy of immunization agents in this specific group need to be more extensively investigated.

**Objective:** To analyze the clinical manifestations and impact of COVID-19 disease and vaccination in the pediatric population with neuroimmunological disorders followed in a Brazilian specialized center.

**Methods:** It is a cross-sectional and retrospective evaluation of pediatric patients with neuroimmunological disorders, at any stage of the disease course, followed from January 2019 until March 2022. Data were collected from medical records and remote interview by telephone call after signed TCLE. Demographics, clinical and therapeutic features, COVID-19 pandemic aspects, suspected or confirmed COVID-19, laboratory and radiologic findings, vaccination details, and disease exacerbations were recorded. The research is under its way.

**Results:** One hundred and fifteen patients were identified as potential subjects. For now, medical records from 42 (36.5%) patients were revised, all of them fulfilled the inclusion criteria. Most patients were female (68.3%) from mixed-ethnicity background (46.2%). Mean age at disease onset was 7.8 (±4.1) years. At last follow-up, the mean age at last follow-up was 12.3 (±2.56) years and the final diagnosis was: multiple sclerosis (31.6%), myasthenia gravis (18.4%), opsonopus myoclonus ataxia (21.1%), neuromyelitis spectrum disorders (7.9%), MOG-IgG associated disorder (5.3%), optic neuritis (5.3%), Guillain-Barre syndrome (2.6%), other diagnosis (7.9%). Mean age at last follow-up was 12.3 (±2.56) years. Half of the patients had a relapsing course, and 12/35 (34.3%) of the patients relapsed during the pandemic period. Data on COVID-19 infection was analyzed for 10 patients. Four (40%) had a confirmed COVID-19 infection. Dyspnea was the most common symptom. One patient needed hospitalization. One patient reported worsening of previous neurologic symptom. There was no death. Vaccination data was analyzed for 7 patients, most vaccinated with Pfizer (71.4%). The only reported adverse event was pain in the injection site. Two parents reported hesitation on vaccines: fear of adverse events (50%) and fear of a new relapse.

**Conclusion:** We present the preliminary results of this ongoing research on COVID-19 infection and vaccination on patients diagnosed with neuroimmunologic disorders of a tertiary center in Brazil.
ID: 829

Area: Neurogenetics

Presentation method: Eletronic Poster

Pitt Hopkins syndrome: a rare cause of global neurodevelopmental delay

Kathielen Fortes Rösler<fnref n="1" />*, Fernanda Wagner Fredo<fnref n="1" />, Rafael Lima de Almeida<fnref n="1" />, Camila Guimarães Parrela<fnref n="1" />, Maytza Mayndra Correa<fnref n="1" />, Jamile Bonini Hadaya<fnref n="1" />, Leticia Pugim Ferreira<fnref n="1" />, Danielle Caldas Bufara<fnref n="1" />, Sergio Antonio Antuniuk<fnref n="1" />

Abstract

**Case Presentation:** M.M, male, 1 year old, premature (34 weeks), low weight (1,525g), APGAR 8/10 and intrauterine growth restriction, sought evaluation due to developmental delay. On physical examination, hypertonia and accentuated reflexes were observed in the upper limbs. An investigation was initiated with a cranial MRI that showed agenesis of the corpus callosum. At 8 months of age, he returns COMP: Last name to care with a slight motor improvement after physio-therapy sessions, however, with speech delay and autistic patterns (non-symbolic play and stereotypies). Research with karyotype, BERA, ophthalmological evaluation and genetic and metabolic investigation followed. Diagnosed with myopia (7 degrees bilateral) with use of corrective lenses. Normal auditory evaluation, karyotype 46XY, screening for metabolic diseases without alterations. Genetic panel for normal movement disorders. He acquired some developmental milestones with the help of therapies, showing good social interaction, without very evident phenotypic changes, just a more pronounced nasal base. Requested CGH-Array with result compatible with Pitt Hopkins Syndrome (PTHS).

**Discussion:** PTHS is a neurodevelopmental disorder caused by the functional loss of an allele of the TCF4 gene that plays an important role in brain development. TCF4 encodes a transcription factor that controls the expression of other genes. It is characterized by phenotypic changes in the face (sunken eyes, prominent nose, wide mouth with widely spaced teeth), global developmental delay, and moderate to severe intellectual disability. Autistic symptoms and other behavioral changes are also common, although social interest is usually present. It may also be associated with respiratory and ophthalmological alterations (severe myopia, in most cases) and epilepsy. Subtle brain changes can be seen on imaging tests such as an underdeveloped corpus callosum.

**Final Comments:** PTHS is a rare disease with about 50 cases reported in Brazil. It should be suspected in children with developmental delay and speech impairment. Although craniofacial alterations are important features for the diagnosis, they may be less evident in childhood and, therefore, their absence does not exclude the disease. After the initial suspicion, the diagnosis can be established through molecular genetic testing. Treatment is stimulation with therapies, in addition to treating associated comorbidities.

ID: 830

Area: Neuroinfections

Presentation method: Eletronic Poster

Chikungunya meningitis: two pediatric case reports

Fernando Silva de Oliveira<fnref n="1" />*, Laianne Barros Martins de Alcântara<fnref n="1" />, Jessica Mayane Barbosa Caixeta<fnref n="1" />, João Victor Macêdo da Cunha<fnref n="1" />, Elizandra Leticia Vieira Terra<fnref n="1" />, Pedro Vitor Portilho Santos<fnref n="1" />, Pedro Henrique Daldegan Couto<fnref n="1" />, Isadora de Oliveira Cavalcante<fnref n="1" />, Paulo Emídio Lobão Cunha<fnref n="1" />

Abstract

**Case Presentation:** Two siblings, female and male, followed at a Child Neurology service. She was admitted at 1y and 8m of age, in treatment with ceftriaxone (100 mg/Kg/day IV) due to a sudden episode of bilateral nocturnal tonic-clonic movements that last 10 minutes, eye version, and persistent high fever of 38 to 40°C associated with headache in the occipital region. On physical examination, she presented mild right hemiparesis, neck stiffness and Brudzinski present. During hospitalization, she had an episode of vomiting and diffuse maculopapular rash on the face, trunk and limbs, suggestive of viral meningitis, and started acyclovir (100 mg/8h). CSF and cranial CT with contrast showed no alterations. EEG suggested cortical/subcortical dysfunction, structural damage, and absence of epileptiform activity. The second patient was admitted to the service at the age of 7, referred from the emergency unit due to the appearance of similar signs to his sister. Evolved during hospitalization with meningeal signs. Then were prescribed Ceftriaxone (2g/day IV), dexamethasone (1.2mL 8/8h) and acyclovir (10 mg/kg/8h). Lumbar puncture showed bloody CSF, culture did not reveal growth of microorganisms. In both cases, viral meningitis was confirmed after a positive IgM serological test for the chikungunya virus.

**Discussion:** Although a broad spectrum of chikungunya-associated neurological diseases is known, meningism is one of the less frequently described. Whether the virus affects the nervous system directly or indirectly via a triggered immunemediated effect is also unknown. In general, meningitis management includes rapid evaluation and stabilization of cardiorespiratory and hemodynamic status, obtaining initial laboratory studies, and administering empiric antibiotics in a timely manner, until blood culture is negative, or a specific viral diagnosis has been made. The diagnosis of chikungunya is established by detection of chikungunya viral RNA via PCR or chikungunya virus serology. It is said that most children with viral meningitis do not require empiric antiviral therapy pending results of PCR testing. However, it is appropriate in children presenting with clinical signs of viral meningitis.

**Final Comments:** Clinicians need to be vigilant, since in many cases, viral meningitis never has an aetiological agent identified. Chikungunya and other viral meningitis might be suspected on the basis of epidemiologic data, clinical features, and initial cerebrospinal fluid (CSF) studies.

ID: 832

Area: Neuroinfections

Presentation method: Eletronic Poster

Epidemiological analysis of Hansen's disease in the pediatric population in the state of Goias: from 2010 to 2022

Amanda Mendes Santos<fnref n="1" />*, Camila Pugliesi de Figueiredo<fnref n="1" />, Michelle Oliveira Teixeira<fnref n="1" />, Victor Pedrosa Ferreira de Souza<fnref n="1" />, Priscila Ariede Petinuci Bardal<fnref n="1" />, Elzilaine Domingues Mendes<fnref n="1" />

<footnote n="1">¹Hospital de Clinicas do Paraná, Centro de Neurologia Infantil, Curitiba PR, Brazil.</footnote>

<footnote>*Correspondence: kathielen.rosler@yahoo.com.br.</footnote>

<footnote n="1">¹Universidade de Brasília, Brasília DF, Brazil.</footnote>

<footnote>*Correspondence: fernandounb22@gmail.com.</footnote>

<footnote n="1">¹Universidade Federal de Catalão, Catalão GO, Brazil.</footnote>
*Correspondence: amanda.mendes@discente.ufcat.edu.br.

**Abstract**

**Background:** Hansen's disease or leprosy is an infection caused by the Mycobacterium leprae that can affect peripheral nerves, cause severe neural damage and lead to permanent grade-2 disability. Children are particularly vulnerable not only due to their immature immune systems, but also due to the possible psychological and emotional damage as a result of the stigma associated with this disease.

**Objective:** To describe the profile of the pediatric population with leprosy in the state of Goiás in Brazil.

**Methods:** A retrospective descriptive epidemiological study was carried out on the notified cases of leprosy in Goiás, between 2010 and 2022. The data was collected from the Brazilian Unified Health System (SUS) databases. The age group analyzed was from 0 to 14 years. The variables evaluated were: age, sex, skin color, pregnancy, operational class and number of multidrug therapy (MDT) doses.

**Results:** Between 2010 and 2022, 970 cases were notified in the 0-14 age group. In 2015, there were 108 cases and in 2016, 64. In 2019, the number of cases was 53. In 2020, there was a significant drop to 34 cases. This data kept decreasing to 27 cases in 2021 and 15 in 2022. Regarding the age groups, in this period, 37 cases were reported in children aged 0-4, 289 in children aged 5-9 and 644 in people aged 10-14 years. More boys (496) were affected than girls (474). The majority of the individuals had brown skin color (62,16%). In addition, there were 72 pregnancies with Hansen's disease (17 with unknown gestational age, 17 in the first, 22 in the second and 16 in the third trimester). About the operational class, 569 individuals were diagnosed with multibacillary (MB) and 395 with paucibacillary (PB) leprosy. Of the filled data with number of MDT doses, 9,6% of PB and 23,4% of MB patients didn't complete the recommended treatment.

**Conclusion:** This study found that the number of notified cases has been decreasing since 2015, with an accentuated drop since the pandemic started in 2020. It's not possible to determine if this tendency is due to the reduction of the infection itself or if there has been an underreporting of new cases. However, the majority of cases are notified when the disease is already in an advanced stage, which is concerning. In addition, there is a noteworthy percentage of uncompleted treatment. Hence, prevention, early detection and treatment adherence are urgent to control this disease, especially considering Primary Care and the Family Health Strategy as public policy.

ID: 833

Area: Others

**Presentation method: Presentation Poster**

**Depression in caregivers of children with severe neurological conditions. Are they a risk group?**

Mayara Gabriele Toledo<fnref n="1" />, Danielle de Lima Pimentel<fnref n="1" />, Veronica Guimaraes Irias de Lima<fnref n="1" />, Julia Felix Filgueiras Lima<fnref n="1" />, Alexandre Ribeiro Fernandes<fnref n="1" />

*Correspondence: afernandes@id.uff.br.

**Abstract**

**Background:** Common symptoms of depression are depressed mood, loss of interest or pleasure in almost all activities. At least one of these two symptoms must be present nearly every day for at least two weeks. The Beck Depression

Inventory (BDI, BDI-II) is a 21-item self-report questionnaire to screen for depressive symptoms. The total score classifies the level of depression intensity and has been widely used to screen depression symptoms in different population groups. Although many studies indicate a high rate of depression among caregivers of children with severe neurological disabilities, our daily and empirical experience doesn't seem to reflect this. Thus, we are carrying out this work to answer this question: is depression among caregivers of children with neurological diseases more frequent in our clinics? In this abstract, we present our preliminary results.

**Objective:** To evaluate the presence of symptoms of depression in caregivers of children with neurological diseases treated at the Pediatric Neurology outpatient clinic.

**Methods:** Cross-sectional, and prospective, study conducted by undergraduate medical students. Caregivers of children with severe neurological diseases (group 1) and with other pediatric diseases (group 2), treated at a tertiary hospital in an urban area. Inclusion criteria were caregivers aged last 18 years. Exclusion criteria were caregivers with previous mental disorder, unable to comprehend the questions, caregivers not directly related to the child (nurses or professional caregivers from nurseries). Variables were described by descriptive statistics (mean, median, interquartile, etc.). Chi square and Student's test were the statistical methods for comparative analyses.

**Results:** 17 caregivers from group 1 and 10 from group 2 have been interviewed until now (n=27). All the socioeconomic variables between both groups showed no statistical differences, indicating both groups are comparable. The mean (SD) BDI score in group 1 was 17.8 (11.3) and in group 2 24.1 (17.4), p = 0.13. Cerebral palsy, muscular dystrophy and epilepsy were the most frequent conditions in group 1 children.

**Conclusion:** We have been observing a trend of lower BDI scores between the caregivers of children with severe neurological diseases, as we have noted previously. Despite a statistical difference could not be determinate, we still find that maybe this could be due to reduced sample. This is an ongoing study. Data collection will continue up to our sample calculated size of 60 caregivers.

ID: 834

**Area: Neurogenetics**

**Presentation method: Eletronic Poster**

**Schaaf-Yang syndrome (SYS): a case report**

Laíla Damasceno Andrade<fnref n="1" />, Catarina Damasceno Fernandes<fnref n="1" />, Rafaela Christina Santos Miranda<fnref n="1" />, Emília Katiane Embiruçu Leão<fnref n="1" />

*Correspondence: laiandrade@outlook.com.

**Abstract**

**Case Presentation:** Male, born at term in need of neonatal resuscitation, being referred to the NICU without ventilatory support. In the neonatal period dysmorphic features were noted such as: broad-based nostrils, long eyelashes, bilateral cryptorchidism and hydronephrosis. Pacient had deficits in sucking, swallowing and gastroesophageal reflux confirmed with barium esophgram, being submitted to gastrotomy with fundoplication at 4 months, when he was discharged

<footnote n="1">¹Universidade Federal Fluminense, Niterói RJ, Brazil.</footnote>

<footnote n="1">¹Universidade Federal da Bahia, Departamento de Pediatria, Salvador BA, Brazil.</footnote>

<footnote n="2">²Universidade Federal da Bahia, Departamento de Genética Médica, Salvador BA, Brazil.</footnote>
from the maternity ward. At 8 months, diagnosed with severe malnutrition, hypoglycemia and irritability. On neurological examination, was observed axial hypotonia with joint contractions of the upper limbs and opisthotonus. He maintained recurrent episodes of hypoglycemia and failure to thrive. Screening for inborn errors of metabolism was performed, without alterations. Evaluated by pediatric endocrinology team which identified hypocortisolism and GH deficiency. Brain MRI was performed, which showed cystic leukomalacia in the occipital region compatible with neonatal distress. When clinical Exoma was performed, a probably pathogenic variant (c.1996C>T/p.(gln666*)) was found in heterozygosis in the MAGEL2 gene, associated with Schaaf-Yang Syndrome (SYS).

**Discussion:** SYS is an ultra-rare syndrome, characterized by neurodevelopmental delay, behavioral disorders, congenital hypotonia, distal joint contractures, respiratory abnormalities, body temperature instability, and gastrointestinal problems mainly related to feeding, which often may result in the need for temporary or permanent alternative feeding routes, as described in the case (1,2). Endocrinological alterations, such as hypopituitarism and GH deficiency may be present, as in the reported case. Among the endocrinopathies described in the SYS, it is possible to highlight the abnormalities in glucose metabolism, which course with hypoglycemia, as also presented by the patient (3).

**Final Comments:** SYS is a multisystem disease, with hormonal variation and glucose metabolism, but the diagnosis is based on the identification of a pathogenic/probably pathogenic variant in the Exoma or genome. We highlighted the great variability of phenotypes associated with congenital hypotonia, diagnosed from the new generation sequencing tests, and the need to implement this test in the SUS, for a quick diagnosis and early therapeutic procedures, aiming to minimize the risk of complications and sequelae.

ID: 835

Area: Neuromuscular diseases

Presentation method: Eletronic Poster

Comparative evaluation of motor skills in children with
spinal muscular amyotrophy type 1 before and after
Spinraza® administration

Ana Luiza Medeiros Mota Reis<fnref n="1" />, Tertuliana Medeiros Mota Reis<fnref n="2" />, Beatriz Veras Barbosa<fnref n="1" />, Gabriel Gomes Oliveira<fnref n="1" />

Abstract

**Background:** Spinal Muscular Amyotrophy (SMA) is a neuro-muscular, genetic and hereditary disease, of autosomal and recessive character, characterized by degeneration and loss of motor neurons in the spinal cord and in the brainstem, causing progressive muscle weakness and hypotonia. There are four types of SMA, which are differentiated by the age of onset of symptoms and the degree of motor development. In Brazil, there is no curative treatment available, requiring a specific drug that delays its development. Spinraza (nusiner-sena) is one of the principal drugs indicated in cases of SMA, it is an antisense oligonucleotide drug (ASO), which can synthesize a biologically active and functional "survival of motor neuron" (SMN) protein.

**Objective:** To compare the motor functions in children with SMA Type I before and after the application of Spinraza®.

**Methods:** Six children diagnosed with SMA Type 1 were analyzed. The data were analysed using IBM SPSS Statistics 22 (2013). The Shapiro-Wilk normality test was performed. The significance level (α) applied in the test was 5%. The collected data were organized in Microsoft Excel 2010® Software.

**Results:** The mean age was 37.8 months, the study group was composed by 66.7% male and 33.3% female, who underwent treatment with Spinraza, with an average initial age of 21.3 months of life. The results obtained during the experiment showed that the application of the 4th dose presented an increase in the score, compared to the control group. The administration of the 6th dose also pointed improvement in the evaluation (Average 28.00 ± 16.57). Most patients showed a mean improvement of 6.17 points after the sixth dose, and there was a mean improvement of 13 and 6.83 points. The administration of the 4th dose showed no significant difference between children of both genders (p>0.05) and the administration of the 6th dose did not show any significant difference either.

**Conclusion:** Thus, there was a significant improvement in motor skills as the treatment proceeded, without positive interference from sex, age or date of initiation of treatment

ID: 836

Area: Neuromuscular diseases

Presentation method: Presentation
Poster

Unusual Guillain-Barre syndrome with normal myotatic reflexes

Ana Carolina Piauilino Santos Falcão<fnref n="1" />*, Isabelle Salgado Castellano<fnref n="1" />, Larisse Souza de Morais Sommavilla<fnref n="1" />, Ana Carolina Coan<fnref n="1" />, Karine Couto Sarmento Teixeira<fnref n="1" />, Katia Maria Ribeiro Silva Schmutzler<fnref n="1" />

Abstract

**Case Presentation:** A 6-year-old boy, 3 weeks after a self-limited case of gastroenteritis, developed distal upper limbs weakness followed by low back pain and lower limbs weakness, with inability to walk. At the initial evaluation, he presented mild proximal and distal upper limbs paresis and proximal lower limbs paresis. Myotatic reflexes were globally brisk. Laségue and Kernig signs were positive. Sensory and autonomic disturbances or cranial nerve changes were absent. Magnetic resonance imaging (MRI) demonstrated enhancement in ventral cervical roots and cauda equina. Furthermore, CSF confirmed protein-cytological dissociation (2 cells | 83 proteins) and nerve conduction study showed acute motor axonal neuropathy (AMAN). During hospitalization, the patient received 5 days course of immunoglobulin 2g/kg with good evolution, completely recovering from pain and paresis.

**Discussion:** Guillain Barré syndrome (GBS) is an acute immune-mediated polyradiculopathy and, in its classic form, is characterized by muscle weakness with ascending symmetric evolution and the presence of hypo or areflexia. Recent reviews, however, bring cases of GBS variants with normal or increased reflexes. In most of these cases, nerve conduction studies show acute motor axonal neuropathy (AMAN). Preservation of sensory afferent arc of the stretch reflex and the involvement of only a part of axons is one explanation for the

<footnote n="1">¹Universidade Federal do Maranhão, São Luís MA, Brazil.</footnote>

<footnote n="2">²Hospital Universitário Unidade Materno Infantil, São Luís MA, Brazil.</footnote>

<footnote>*Correspondence: reisanaluiza1@gmail.com.</footnote>

<footnote n="1">¹Universidade Estadual de Campinas, Faculdade de Ciências Médicas, Campinas SP, Brazil.</footnote>

<footnote>*Correspondence: carolpsfalcao@gmail.com.</footnote>
preservation of the reflex and is a sign of good prognosis with early recovery.

**Final Comments:** Muscle stretching reflexes finding in cases of GBS has been rarely reported in literature. This report draws attention to the need of thinking about the diagnosis even with the presence of reflexes, and also warns about the need to revise the current diagnostic criteria.

ID: 837

Area: Epilepsies

**Presentation method: Eletronic Poster**

**Treatment management of mTORopathies: a case report**

Larisse Souza Morais Sommavilla<fnref n="1" />, Ana Carolina Piauilino Santos Falcão<fnref n="1" />, Isabelle Salgado Castellano<fnref n="1" />, Maria Luiza Benevides<fnref n="1" />, Helena Tadiello de Moraes<fnref n="1" />, Luciana Cardoso Bonadia<fnref n="1" />, Iscia Lopes Cendes<fnref n="1" />, Ana Carolina Coan<fnref n="1" />

**Abstract**

**Case Presentation:** A 16-year-old girl, born to healthy and non-consanguineous parents at 34 weeks, from a twin pregnancy, presented with recurrent focal motor seizures since she was three years old. Her family history of epilepsy was negative. In the complementary investigation, brain MRI was normal, and the electroencephalogram (EEG) showed hyper motor seizures with right frontal or temporal onset. Exome sequencing identified a pathogenic NPRL3 heterozygous variant (NM_001077350.3: c.1032-1G>A). Epilepsy had been pharmacoresistant for many years, despite the use of different antiseizure medication (ASM) in mono or polytherapy. With the use of Vigabatrin, the patient became seizure free and she has been followed with annual electroretinogram.

**Discussion:** The mammalian target of rapamycin (mTOR) pathways is associated with cell growth and survival, protein synthesis and synaptic plasticity. Variants in genes that correlate with these pathways, such as mTOR, DEPDC5, NPRL3, NPRL2, can lead to intractable epilepsy and developmental delay due to hyperactivation of mTOR signaling. These genes are frequently associated with focal epilepies and eventually with focal cortical dysplasias. Vigabatrin is an ASM with a possible property to suppress the mTOR pathway. Its use to treat focal epilepsies is controversial due to the high risk of gabaergic retinopathy.

**Final Comments:** The therapeutic management of mTORopathies must involve therapies that decrease or inhibit the activation of the mTOR pathway, such as the use of vigabatrin, and in cases that present malformations of cortical development, surgical treatment is well established. Despite the risk of side effects with the chronic use of vigabatrin, it should be better evaluated in the mTORopathies associated with pharmacoresistant seizures.

ID: 838

Area: Neuropsychiatric disorders and
learning disorders

**Presentation method: Eletronic Poster**

**Use of folic acid during pregnancy and its interference in
reducing the autism spectrum disorder index in the
offspring**

Gabriela Guerra Pelegrini<fnref n="1" />*, Rayssa Navarro de Souza<fnref n="1" />, Dante Ferreira de Oliveira<fnref n="1" />

**Abstract**

**Background:** Prenatal maternal diet is a critical factor in the neurodevelopment of the offspring. Emerging evidence suggests that prenatal supplementation may also play a role in the etiology of autism spectrum disorder (ASD). Studies carried out in animals and humans show that folate plays a key role in the development of the nervous system. In short, periconceptional folic acid can reduce the risk of ASD and the use of multivitamins rich with folic acid used by women before fertilization and up to the first trimester of pregnancy is also related to a numerous restriction of serious malformations. For some women who do not have sufficient intakes of supplemental folic acid in the periconceptional period, current levels of folic acid fortification may have increased blood folate concentrations enough to facilitate neural tube closure and fetal survival, but not enough to prevent milder anomalies of brain development, which in certain late fetuses can have compromising neurodevelopmental implications, such as autism.

**Objective:** To summarize the evidence on the role of folic acid in periconceptional and prenatal supplementation primarily on ASD-related features.

**Methods:** The following systematic literature review was carried out by searching publications in the PubMed, Scopus, Cochrane, Scielo, Medline, Web of Science databases, in the period between 2012 and 2022 with the terms "Supplementation of folic acid and TEA and folic acid" and "Prenatal folic acid". Original articles, systematic reviews and publications assessed as relevant by the authors were selected. Exclusion criteria: old articles, duplicate articles and articles that were not well evaluated.

**Results:** The research, based on the analyzed articles, found that there are promising results regarding the use of folic acid and multivitamins, including vitamin D and other vitamins, as potential protective factors in the prenatal period, obtaining good results in the reduction of defects in tubes neural networks and reduced risk of ASD in the offspring. Furthermore, there are no appreciable adverse effects with the use of folic acid in the preconception period.

**Conclusion:** It is possible to conclude that the use of folic acid associated with multivitamin supplementation, including vitamin D and B6, associated with dietary control decreases the risk of neural tube defect and, thus, the incidence of ASD in the offspring.

ID: 840

Area: Neuromuscular diseases

**Presentation method: Eletronic Poster**

**Respiratory management with non-invasive ventilation of a
child with spinal muscular atrophy type I: case report**

Isabela Grozza Cestari<fnref n="1" />,<fnref n="2" />, Júlia de Lima Alves<fnref n="1" />,<fnref n="2" />, Carolina Guimarães Moura<fnref n="1" />,<fnref n="2" />, Júlia Mazaroski<fnref n="1" />,<fnref n="2" />, Caroline Maria de Lima Verza<fnref n="1" />,<fnref n="2" />, Isabella Cristina Mendes de Sá e Silva<fnref n="1" />,<fnref n="2" />, Jessica Rios Braga Vilela Silva<fnref n="1" />,<fnref n="2" />

<footnote n="1">¹Universidade Estadual de Campinas, Faculdade de Medicina, Hospital de Clínicas, Campinas SP, Brazil.</footnote>

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

<footnote n="1">¹Universidade Anhembi Morumbi, São Paulo SP, Brazil.</footnote>

<footnote>*Correspondence: gabriela.pelegrini2001@gmail.com.</footnote>

<footnote n="1">¹Centro Universitário Barão de Mauá, Ribeirão Preto SP, Brazil.</footnote>

<footnote n="2">²Hospital Materno Infantil Sinhá Junqueira, Ribeirão Preto SP, Brazil.</footnote>
*Correspondence: isabelacestari19@gmail.com.

**Abstract**

*Case Presentation:* A female patient, 4-months-old, diagnosed with Spinal Muscular Atrophy Type I by genetic test using the Multiplex Ligation-dependent Probe Amplification (MLPA) technique and with respiratory failure manifestations in the first weeks of life. Due to this acute condition, in the emergency service, the patient was admitted to the hospital, initially using Continuous Positive Airway Pressure (CPAP) and later requiring orotracheal intubation due to worsening of the respiratory condition. After Nusinersena (4 doses) was administered, extubation measures were taken. Even with clinical complications, such as pneumothorax and episodes of bradycardia, the patient was kept on non-invasive ventilation, and ventilatory support measures were used, such as Cough Assist and physiotherapy maneuvers, and she was discharged after 115 days of hospitalization, without tracheostomy.

*Discussion:* Spinal Muscular Atrophy is a genetic disease involving cell death of motor neurons located in the anterior horn of the spinal cord and brainstem motor nuclei, caused by SMN1 gene mutations. Type 1 is the most severe form, presenting with areflexia, inability to sit without support, severe hypotonia, and diffuse muscle weakness. Respiratory failure is usually the cause of death in these patients between 12 and 36 months of age, caused by profound neurogenic muscle atrophy leading to inability to cough, weakness and fatigue of the respiratory muscles. It can develop from progressive ventilatory decompensation or from an acute process such as pneumonia. Among the types of respiratory management, tracheostomy can be performed when patients are unable to wean themselves off ventilatory support. However, it makes speech development difficult or impossible, leads to dependence due to loss of respiratory autonomy, and brings complications such as repeated infections. In contrast, non-invasive ventilation associated with adequate physiotherapy assistance offers good results, with fewer hospitalizations allowing home admission, speech capacity and increased life expectancy.

*Final:* In this report, it was observed that the choice not to perform a tracheostomy was beneficial, enabling the indication of Zolgensma according to criteria for supply via the Unified Health System.

*Comments:* It is necessary to promote a better quality of ventilation and suction of patients with SMA type 1, seeking to increase the patient's quality of life, against tracheostomy as the best treatment option.

ID: 841

**Area: Neuropsychiatric disorders and learning disorders**

**Presentation method: Eletronic Poster**

**The impacts of screen use on child development**

Arthur Carvalhal Gonçalves¹

¹Universidade Iguacu, Itaperuna RJ, Brazil.

*Correspondence: acarvalhalgoncalves@gmail.com.

**Abstract**

*Background:* The excessive use of screens has been associated with various mental and physical health problems, including learning disorders. Studies have shown that prolonged exposure to blue light emitted by screens can impair sleep quality, affecting cognitive performance and concentration during the day. Additionally, the lack of physical activity associated

with screen use has also been linked to learning problems. According to the American Academy of Pediatrics, children and adolescents should limit screen time to a maximum of 2 hours per day in order to avoid learning difficulties, obesity, and other health problems related to sedentary behavior.

*Objective:* The main objective of this study about excessive screen use and learning disorders is to understand the relationship between these two factors and investigate the possible negative effects of excessive screen use on learning and cognitive development. There are growing concerns about the impact of excessive screen use, such as smartphones, tablets, computers, and televisions, especially in school-aged children and adolescents. It is believed that spending too much time in front of screens can negatively affect learning ability and academic performance, as well as contribute to the emergence of learning disorders such as attention difficulties, memory deficits, impaired motor skills, and language difficulties.

*Methods:* In summary, this integrative review critically analyzed 30 selected articles using a systematic and rigorous approach.

*Results:* There is growing evidence that excessive screen time is associated with a higher risk of developing learning disorders and academic deficits. Studies suggest that blue light emitted by screens can impair sleep quality, leading to difficulties with concentration and learning during the day. Additionally, the lack of physical activity associated with screen use can also be a contributing factor to learning problems. It is important to note, however, that screen use itself is not the primary cause of learning disorders and academic deficits. There are many other factors that can influence academic performance, such as the quality of the learning environment and access to adequate educational resources.

*Conclusion:* Moderate and conscientious use of screens can be beneficial in many aspects, such as a source of information and educational entertainment.

ID: 842

**Area: Inborn errors of metabolism**

**Presentation method: Eletronic Poster**

**Case report: glutaric aciduria type I**

Andrea Sayuri Murata¹, Gustavo Henrique Fernandes Avelino¹*, Thayna Jardim Monzani¹, Mariana Maciel Algazal¹, Carolina de Souza Thimoteo Gonçalves¹, Elza Akiko Natsumeda Utino¹, Armênio Alcantara Ribeiro¹

¹Hospital Regional de Presidente Prudente, Presidente Prudente SP, Brazil.

*Correspondence: guhfernandesavelino@gmail.com.

**Abstract**

*Case Presentation:* O.P.R., 7 months old, female, was admitted to the clinic with irritability, intolerable crying, and hypertonia in the right hemibody for 2 days, associated with delayed global development with regression of milestones 1 month ago. Physical examination revealed macrocephaly, absent cervical support, global hypotonia, and no other alterations. A computed tomography (CT) scan of the skull with accentuation of the cortical sulci and cephalic cisterns, mainly near the lateral sulci/sylvian fissure and electroencephalogram (EEG), without alterations. Molecular panel collected, positive for glutaric aciduria type I. After diagnosis, L-carnitine was introduced, dietary guidelines were given, and the patient was referred to a reference service.
**Discussion:** Glutaric aciduria type I, or glutaryl CoA dehydrogenase deficiency, is an autosomal recessive metabolic disorder resulting from a homozygous or compound heterozygous mutation in the gene encoding glutaril CoA dehydrogenase on chromosome 19p13.2, with an incidence of 1:100,000 live births. It is characterized by normal embryofetal development, asymptomatic period, symptoms in spurts usually triggered by metabolic crises. It may present delayed development or regression after an infectious or immunizing condition. Its clinical picture is composed of neurological deterioration, hypotonia, movement disorders such as dystonia, choreathetosis, diplegia and opisthotone, epileptic seizures, neuronal loss in the basal ganglia and gliosis. In complementary examinations we observe metabolic acidosis, ketonuria, ketonemia, hypoglycemia, glutaryl CoA dehydrogenase deficiency, frontotemporal atrophy, widening of the cortical sulci, dilatation of the lateral ventricles. The diagnosis is made by molecular study or substrate dosage, such as acylcarnitine profile and urinary organic acids. Treatment is based on a lysine-restricted diet and carnitine supplementation.

**Final Comments:** Given this situation, the importance of regular follow-up is reaffirmed, especially in early childhood and early referral whenever there are warning signs of neurodevelopment, especially with the goal of early diagnosis in order to reduce future sequelae.

ID: 843

Area: Rehabilitation

Presentation method: Electronic Poster

**Musical communication X verbal communication: understanding musical overloading**

Natália Elisa Magalhães<fnref n="1" />, Roberta Barros Florencio<fnref n="2" />

*Correspondence: nat_mag@hotmail.com.

**Abstract**

**Background:** One of the greatest demands of music therapy is children who, despite their language delay, show excellent musical expression, reproducing different repertoires, easily memorizing new material and singing for very long periods of time, with no interaction with peers or communication. verbal. This musical overloading, by activating potent dopaminergic circuits, becomes one of the great challenges for the music therapist, who needs to break them down to stimulate structures in brain areas that are important for the development of verbal communication.

**Objective:** Analyze the development of verbal communication in children with language delay who use music to communicate with others.

**Methods:** Documentary, retrospective and comparative analysis of music therapy assessments included in patients' medical records over a two-year period of care. The medical records of patients of both genders, with an initial age between three and four years, with language delay and musical expression sung at the time of evaluation were considered.

**Results:** In 100% of the analyzed cases, the patients used music as an auditory comfort zone, which was reinforced by family members who reported not being able to get other forms of interaction (75%), therapists from other specialties (85%) and at school (45%). Cases were identified in which the patient had started with musicalization (80%) and this was sus-

pended due to the increase in the time and intensity of the non-functional singing. Some families (85%) reported having started music therapy with another professional, who was suspended due to increased patient agitation after the session (55%) or decreased interaction with peers (35%). It was observed that the development of verbal communication occurred together with the decrease in the patients' singing time after breaking the comfort zone performed in the music therapy intervention (90%). Patients with a frequency of three individual consultations a week showed faster evolution (six months) compared with patients seen only once a week (one year).

**Conclusion:** The identification of pathological musical response patterns is essential for the success of music therapy interventions. Therefore, the evaluation of the music therapist becomes fundamental for guiding the family, pedagogical and therapeutic team that accompanies the patient. In this way, functional response patterns will be enhanced and will help the patient in their development with greater functionality when using musical resources.

ID: 844

Area: Neuropsychiatric disorders and learning disorders

Presentation method: Presentation Poster

**Involvement of cannabidiol in the reduction of lipid peroxidation in Wistar rats induced intra uterus with valproic acid**

Sheila Wayszceyk<fnref n="1" />, Anastácio Sadzinski Junior<fnref n="1" />, Claudia Almeida Coelho de Albuquerque<fnref n="1" />, Débora Delwing Dal-Magro<fnref n="1" />

¹Universidade Regional de Blumenau, Blumenau, SC, Brazil.

*Correspondence: sheila.wayszceyk@yahoo.com.br.

**Abstract**

**Background:** The production of reactive oxygen species (ROS) is an integral part of human metabolism and is observed in different physiological conditions as a form of defense. However, when its production is exacerbated, it generates oxidative stress, resulting from the imbalance between the pro and antioxidant systems, as happens in the use of intrauterine valproic acid, as this is toxic to neurons. Furthermore, oxidative stress seems to be involved in the pathophysiology of autism and cannabidiol has demonstrated antioxidant effects, making it a possible therapeutic choice.

**Objective:** To demonstrate the involvement of cannabidiol in the reduction of lipid peroxidation in the brains of Wistar rats induced intra utero with valproic acid.

**Methods:** 105 male Wistar rats were used, which were exposed in utero with 600mg/kg of valproic acid or saline. After completing 27 days, they were treated for 15 days with cannabidiol (CBD) at a dosage of 60 mg/kg or sesame oil (vehicle) and after the treatment period, the animals were sacrificed, and the cerebral cortex was collected for analysis of substances reactive to thiobarbituric acid (TBARS).

**Results:** In autism, neuroinflammation may be mediated by oxidative stress, in which there is cellular damage by increasing lipid peroxidation of the cell membrane, elevating TBARS levels in brain tissue. TBARS measures malondialdehyde (MDA), a product of lipid peroxidation, caused primarily by the presence of free hydroxyl radicals. CBD appears to be involved in the antioxidant process by increasing the availability of anandamide in the brain, an endogenous agonist of cannabinoid receptors. There were increased levels of TBARS

<footnote n="1">¹Todos Educação, Porto Alegre RS, Brazil.</footnote>

<footnote n="2">²Stimulus Terapias Integradas, Tatuí SP, Brazil.</footnote>
in the vehicle-treated autistic control when compared to the non-autistic vehicle-treated control group. CBD at a dose of 60 mg/kg reversed the increase in TBARS levels observed in the autistic group.

**Conclusion:** It is thus demonstrated that oxidative stress is involved in the pathophysiology of autism through the increase in lipid peroxidation in the cell membrane and that CBD at a dosage of 60 mg/kg in progressive treatment was able to decrease this marker, acting as an antioxidant.

ID: 846

**Area: Neuroimaging**

Presentation method: Presentation
Poster

Fetal MRI features in a fetus with TUBA1A novel variant

Thais dos Santos Rohde<fnref n="1" />, Louise Scridelli Tavares<fnref n="1" />, Mateus Pradebon Tolentino<fnref n="1" />, Bryan da Silva Marques<fnref n="1" />, Pedro Barbosa Oliveira<fnref n="1" />, Marcelo de Melo Aragão<fnref n="1" />, Ricardo da Silva Pinho<fnref n="1" />, Alulin Tácio Quadros Santos Monteiro Fonseca<fnref n="1" />

*Correspondence: thais.srohde@gmail.com.

**Abstract**

**Case Presentation:** The patient was the third child of healthy non-consanguineous parents. Her mother presented only with gestational diabetes during an otherwise uneventful pregnancy. Ultrasound at 19 weeks revealed severe hydrocephalus and the corpus callosum was not identified. Further fetal MRI at 27 weeks evidenced cerebral ventriculomegaly, enlargement of the 3rd ventricle, agenesis of the corpus callosum, communication between the 4th ventricle and great cistern, vermian and brainstem hypoplasia. A female infant was born full term, born in a cesarean birth due to non-reassuring fetal status. Her weight was normal for gestational age and she presented macrocephaly with global hypotonia. The left cochlear-palpebral reflex was absent and funduscopic examination revealed bilateral optic nerve hypoplasia. Neonatal brain MRI confirmed fetal findings and also showed cerebellar hemispheres hypoplasia. During the following months she developed epilepsy, limbs spasticity and global development delay. Due to these findings, an exome was performed and revealed TUBA1A: c.185T>G, a likely pathogenic missense variant in heterozygosity.

**Discussion:** Tubulin genes encode tubulin proteins which form heterodimers as fundamental components of microtubules and participate in substantial cellular processes of intracellular transport, cell division, neuronal migration, organization and differentiation and axon guidance and maintenance. Pathogenic variants in these genes are responsible for a complex and wide spectrum of cerebral malformations defined as tubulinopathies. To date, TUBA1A represents the main tubulinopathy gene. Main clinical features include global developmental delay, ophthalmological alterations, including optic nerve hypoplasia, epilepsy and spasticity. The most common fetal imaging findings are cerebral ventriculomegaly and cerebellar hypoplasia and postnatal features includes alterations in cortical gyration, abnormalities in basal ganglia, corpus callosum or capsula interna and also cerebellar vermis and brainstem hypoplasia. Ventricular dilatations are reported in all cases in literature.

**Final Comments:** We present a rare case of tubulinopathy fetal MRI due to a novel variant in TUBA1A gene. The presence of fetal ventriculomegaly with cerebellar abnormalities should warrant a clue for evaluating tubulinopathies. Early diagnosis

may assist in care coordination for the patient and further genetic counseling.

ID: 847

**Area: Neuroinfections**

Presentation method: Presentation
Poster

Total regression of CNS lesions in a pediatric patient with suspected neurotuberculosis

Abner Augusto Cutrim Silva Nunes<fnref n="1" />, Francisco Scornavacca<fnref n="1" />, Vanessa Vargas<fnref n="1" />, Thaís Barroso Naves<fnref n="1" />, Gabriel Dias Henz<fnref n="1" />, Richiele Forgiarini da Silva<fnref n="1" />, Gustavo Brunelli Vallim<fnref n="1" />, Laura Moreira de Medeiros<fnref n="1" />, Maria Graziela Ferreira Duarte<fnref n="1" />

*Correspondence: nessadivargas@hotmail.com.

**Abstract**

**Case Presentation:** K.A.B.M, male, 8 years old, previously healthy, presented a case of focal seizure that subsequently generalized, ceasing with the use of Diazepam. He had a history of severe headache in the frontal region, associated with photophobia, occurring 1 to 2 times per month for the past 6 months, which resolved with analgesics. During hospitalization, a cranial CT scan was performed due to suspected stroke, revealing an area of frontal hypodensity on the left side. Further investigation was conducted with a cranial MRI, which showed a nodulariform lesion in the left medial frontal gyrus measuring approximately 1.4 x 1.4 cm, and a nodular image in the right superior parietal lobe measuring around 0.8 cm, both with peripheral enhancement and adjacent edema. Due to suspicion of tuberculosis, a chest CT scan was performed, revealing atelectatic opacities and nodular lesions consistent with granulomatous infectious disease. Through investigation, it was discovered that there was household contact with a family member undergoing treatment for TB. Rifampicin 150mg + Isoniazid 75mg, Pyrazinamide 500mg, and Prednisone 40mg were initiated. After 7 months, a follow-up MRI was performed, showing complete regression of the nodulariform lesions and vasogenic edema.

**Discussion:** Seizure is one of the most common symptoms of neurotuberculosis, particularly generalized tonic-clonic seizures. The pathophysiology may involve inflammatory mediators in the central nervous system (CNS), causing disruption of the blood-brain barrier, cerebral edema and neuronal hyperexcitability. Tuberculoma forms as granulomatous lesions resulting from the confluence of multiple tubercles acquired during hematogenous dissemination. They are visualized as discrete ring-enhancing lesions (single or multiple) in the brain, surrounded by perilesional edema. Tuberculoma should be considered as a diagnosis of patients with mass lesions in the brain and relevant epidemiological factors (history of infection or known exposure), as reported in the above case. Due to the high mortality rate, treatment for CNS tuberculosis should be initiated upon suspicion of the diagnosis.

**Final Comments:** In patients with suspected CNS tuberculosis, immediate treatment should be initiated for better outcomes, therewith high morbidity and mortality. Though, in some cases, total regression of lesions in the central nervous system can be achieved.

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

<footnote n="1">¹Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre RS, Brazil.</footnote>
ID: 848

Area: Neuromuscular diseases

Presentation method: Presentation
Poster

Correlation between ultrasound assessment of
musculature with lung function in patients with Duchenne
muscular dystrophy

Karlla Danielle Ferreira Lima¹*, Pedro Henrique Marte Arruda Sampaio¹, Marco Antônio Veloso Albuquerque¹, Edmar Zanoteli¹

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

*Correspondence: karlla.dfl@gmail.com.

Abstract

**Background:** Duchenne muscular Dystrophy (DMD) is a genetic disease of recessive inheritance linked to the X chromosome, caused by a mutation in the dystrophin gene. This mutation will result in the dystrophin protein's absence, leading to musculoskeletal degeneration. The disease is the most common childhood-onset form of muscular dystrophy and affects males almost exclusively. DMD symptoms onset occurs in early childhood, usually between the ages of 3 and 5 years, with progressive muscle weakness and loss of gait in adolescence, progressive cardiomyopathy, and respiratory failure, leading to death. Spirometric parameters such as forced vital capacity (FVC) are used to monitor lung function. Muscle ultrasound has been increasingly used in neuromuscular diseases and allows you to evaluate the muscles individually.

**Objective:** To evaluate the correlation between lung function and muscle involvement in DMD at different stages of the disease.

**Methods:** This is a prospective observational study with 22 patients with DMD followed-up at the Hospital das Clínicas de São Paulo - HC/FMUSP, with the assessment of eleven muscles (axial, appendicular, and respiratory) by ultrasonography in Duchenne muscular dystrophy (DMD) patients through quantitative analysis by histogram and correlating the results with the Forced Vital Capacity (FVC).

**Results:** The muscle involvement of the 1st interosseous and rectus femoris increased proportionally with age. The degree of muscle involvement of the first interosseous, biceps brachii, deltoid, rectus femoris, anterior tibialis, and medial gastrocnemius muscles increased with the reduction of FVC with statistical significance. The correlation between the histogram of diaphragmatic and intercostal muscles with FVC was not statistically significant.

**Conclusion:** The 1st interosseous and Rectus femoris muscles had a statistical correlation with age and FVC. The degree of involvement of the diaphragm and intercostal muscles did not correlate with FVC, 1st interosseous bone may be an indirect marker of disease progression and respiratory involvement. The follow-up of these patients will determine the value of ultrasound in the long-term follow-up of respiratory and appendicular muscles in patients with DMD.

ID: 851

Area: Neuromuscular diseases

Presentation method: Eletronic Poster

Evaluation of diaphragm function by ultrasound in patients
with Duchenne muscular dystrophy

Karlla Danielle Ferreira Lima¹*, Pedro Henrique Marte Arruda Sampaio¹, Marco Antônio Veloso Albuquerque¹, Edmar Zanoteli¹

¹Universidade de São Paulo, Faculdade de Medicina, Hospital das Clínicas, Departamento de Neurologia, São Paulo SP, Brazil.

*Correspondence: karlla.dfl@gmail.com.

Abstract

**Background:** Duchenne muscular Dystrophy (DMD) is a genetic disease of recessive inheritance linked to the X chromosome, caused by a mutation in the dystrophin gene. This mutation will result in the dystrophin protein's absence, leading to muscle skeletal degeneration. The disease is the most common childhood-onset form of muscular dystrophy and affects males almost exclusively. DMD symptoms onset occurs in early childhood, usually between the ages of 3 and 5 years, with progressive muscle weakness and loss of gait in adolescence, progressive cardiomyopathy, and respiratory failure, leading to death. Muscle ultrasound has been increasingly used in neuromuscular diseases and allows to evaluate the diaphragmatic function.

**Objective:** To evaluate the impairment of the diaphragm in patients with DMD at different stages of the disease.

**Methods:** This is a prospective observational study with 22 patients with DMD followed at the Hospital das Clínicas de São Paulo - HC/FMUSP, from April 2022 to April 2023. They were evaluated by ultrasound of the diaphragm at maximum inspiration and maximum expiration and correlated with age and FVC (forced vital capacity).

**Results:** The mean age of the patients was 11.4 years (8-18 years), The mean onset of symptoms was 3.3 years (1-6 years). All were using steroids (deflazacort or prednisolone). None of the patients had diaphragmatic paralysis. There was no correlation between diaphragm mobility with age and FVC.

**Conclusion:** The reduction in lung function in patients with DMD with a mean age of 11,4 years is not accompanied by a reduction in diaphragmatic mobility. Diaphragmatic paralysis was not found in our series.

ID: 852

Area: Cerebrovascular diseases and
intensive care in child neurology

Presentation method: Eletronic Poster

Moya-Moya related to RNF gene: case report and clinical implications

Felipe Arthur Almeida Jorge¹*, Caroline Corrêa Maranhão¹, Lorena Raulik Cyrino¹, Vinicius Lopes Braga¹, Marcelo Melo Aragão¹, Alulin Tácio Quadros Santos Monteiro Fonseca¹, Ricardo Silva Pinho¹

¹Universidade Federal de São Paulo, São Paulo Sp, Brazil.

*Correspondence: felipe.arthur.jorge@gmail.com.

Abstract

**Case Presentation:** Japanese descent boy, 9yo, started transient ischemic attacks, characterized by intermittent loss of strength for about 3 months, until he had an episode of stroke. On admission, the MRI showed, in DWI, restriction on the left temporo-parietal cortico-subcortical region. MRI angiography showed narrowing of the middle cerebral arteries and collateral circulation bilateral. Genetic testing was chosen due to the family history for Moyamoya Disease (MMD). The
Genetic Panel revealed a mutation on gene RNF213 [c.14429G>A (p.Arg4810Lys)], an autosomal dominant variant, known pathogenic related to MMD. The patient was submitted to surgical intervention, with the performance encephalo-duro-arterio-myo-synangiosis (EDAMS) on the left side. A month after surgery, the patient develops a new stroke with contralateral motor deficit, anarthria, dysphagia and pseudobulbar syndrome. After this new event, he underwent over again an EDAMS surgery to the arteries on the right side.

**Discussion:** MMD is characterized by progressive stenosis of large intracranial arteries, mainly in distal internal carotid artery, that could cause transient ischemic attacks, strokes and intracranial hemorrhage. Children under 10 years old account for 50% of cases of MMD. Polymorphism (R4810K) in the Ring Finger Protein 213 (RNF213) gene, at chromosome 17q25.3 was identified as a susceptibility gene for MMD among the East Asian population. In Japanese studies this variant was identified in 95% of patients with familial MMD and 80% with sporadic MMD. The homozygous c.14429G>A (p.R4810K) variant was related to an early-onset and a severe symptomatic manifestation form of MMD in Japanese and Korean patients. Special attention should be given to these cases, as this genotypic variant may be a useful biomarker to early diagnosis and revascularization treatment.

**Final Comments:** The RNF213 gene related MMD demands an early surgical intervention, to prevent future complications and to provide a better prognosis. In an era of greater interest and greater availability of genetic testing, we must consider this data to provide individualized treatment.

ID: 853

## Area: Neuropsychiatric disorders and learning disorders

### Presentation method: Presentation Poster

**Autism and its genetic aspects: what does the literature reveal?**

Geovanna Barros Rocha¹,²*, Ana Lucy Peixoto Rabelo¹,²

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

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

*Correspondence: geovannaroccha@outlook.com.

**Abstract**

**Background:** Autism Spectrum Disorder (ASD) is one of the most common neurodevelopmental disorders in children, characterized by social disorders, communication deficits and restrictive and repetitive behavior patterns. Its etiology constitutes a heterogeneous pattern of genotypes, with the influence of environmental factors. Thus, knowledge of the different genetic bases and existing subgroups allows mapping the broad behavioral phenotypes, predicting their consequences and choosing the appropriate therapeutic conduct.

**Objective:** To evaluate the relationship between the genetics of autism and its clinical manifestations and therapeutic approaches.

**Methods:** This is an integrative literature review, descriptive and qualitative. The descriptors that were used are: (Autism) and (genetic) or (genetic based), in the Scielo and Pubmed databases. Articles in English and Spanish were included, from the period 2015 to 2022. Incomplete or paid articles were excluded.

**Results:** Autism causes complex changes in synaptic organizations and neuronal connectivity, with different pathways

affected, due to a collection of genetic risk factors, which may be associated with risky environmental exposures, being divided into Primary (idiopathic origin) and Secondary (syndromic origin). As for the diseases associated with autism of syndromic origin, they can be: Rett syndrome, fragile X, Angelman, Tourette, Down, Phelan-McDermid, Prader-Willi, Cohen, Timothy, Smith-Lemli-Opitz and Cornelia de Lange. These have symptoms that overlap with those of Autism, such as delayed social and language development and stereotyped behaviors. As for Primary Autism, research indicates that the main genes involved are MET, SLC6A4, RELN, PTEN, TSC1, TSC2, NLGN, NRXN, MECP2, UBE3A, HANK, FMR1, CHD8, DYRK1A, ADNP, ANK, SCN2A, TBR1, DYRK1A, SYNGAP1, SERBP1, BOLA2, STXBP1, CDLK56, which are linked to synaptogenesis and manifest changes in serotonergic, GABAergic, and related catecholaminergic and cholinergic systems.

**Conclusion:** Thus, Autism is a multifactorial genetic disease, in which the phenotypes do not arise from the same mutation. The clinical spectrum of each patient depends on altered genetics and specific brain events, with loss of synapses and neuronal connections. Therefore, knowledge of the mechanisms involved is essential to establish preventive measures and the mapping of early markers, in addition to personalized treatments, enabling family counseling and consistent prognosis for the specific condition.

ID: 854

## Area: Neuromuscular diseases

### Presentation method: Oral Presentation

**Spinal muscular atrophy diagnosis in Latin American: the registrame clinical registry**

Edmar Zanoteli¹, Elice Carneiro Batista², Marcela Câmara Machado Costa³, Fernando Suárez Obando (In Memoriam)⁴, Jaqueline Almeida Pereira⁵, Claudia Rebeca Castiglioni Toledo⁶, Javier Eduardo Linzoin⁷, Juliana Gurgel Giannetti⁸, Luiz Vicente Rizzo²

¹Universidade de São Paulo, Faculdade de Medicina, Hospital das Clínicas, Instituto da Criança, São Paulo SP, Brazil.

²Hospital Israelita Albert Einstein, São Paulo SP, Brazil.

³Escola Bahiana de Medicina e Saúde Pública, Fundação para o Desenvolvimento das Ciências, Salvador BA, Brazil.

⁴Instituto Roosevelt, Bogotá, Colombia.

⁵Universidade Federal do Rio de Janeiro, Instituto de Puericultura e Pediatria Martagão Gesteira, Rio de Janeiro RJ, Brazil.

⁶Clinica Meds La Dehesa, Santiago, Chile.

⁷Clinica Universitaria Reina Fabiola, Córdoba, Argentina.

⁸Universidade Federal de Minas Gerais, Hospital das Clínicas, Belo Horizonte MG, Brazil.

*Correspondence: elice.batista@einstein.br.

**Abstract**

**Background:** Spinal muscular atrophy (SMA) is a rare disease characterized by progressive loss of motor neurons located in the anterior horn of the spinal cord and brainstem, leading to progressive muscle atrophy and weakness. The most common form of SMA (5q SMA) is caused by bi-allelic mutations in the SMN1 gene on chromosome 5q13.2, classified into subtypes, according to the age of onset and the maximum motor function achieved. The journey to diagnosis can last for years and have a wide and significant impact on patients' lives.

**Objective:** To map the time interval between the appearance of the first signs and symptoms and the achievement of the 5q SMA diagnosis using a genetic report in Latin American patients with 5q SMA.
**Methods:** This study is a clinical multicounty registry for SMA diseases that includes patients with 5q SMA types 1, 2, and 3 of all ages and both sexes, treated in six Latin American countries (Argentina, Brazil, Chile, Colombia, Mexico, and Uruguay). The time interval between the appearance of the first signs and symptoms until obtaining the confirmatory genetic diagnosis of 5q SMA will be analysed.

**Results:** Currently 213 participants were included (Argentina: 27, Brazil: 136, Colombia: 33, Chile: 17), with an average age of 13.7 (years), being 99 (46.5%) female and 114 (53.5%) male. The study is ongoing, and it is intended to reach around 300 participants in the next 3 months. Preliminary results show subtype 2 (45.5%) constitutes the largest number of participants in this study, followed by subtypes 3 (38.0%) and 1 (16.4%). The mean time to reach the confirmatory molecular report of 5q SMA varies greatly across countries. Of the patients included in the study so far, 134 (63%) use or have had access to disease modifying therapy for SMA and 79 (37%) never had access. Analysing the reality of how long these patients take to confirm the genetic diagnosis of SMA 5q is of great relevance for greater assertiveness in the clinical management of the disease and access to treatments that modify the course of the disease.

**Conclusion:** 5q SMA is a progressive degenerative disease, and it is of fundamental importance that diagnostic confirmation occurs as early as possible. Knowing the time profile of patients with 5q SMA diagnosis in Latin America is of fundamental importance for us to advance in screening strategies essential to improve patient care. This study is supported by Biogen.

ID: 855

Area: Neuromuscular diseases

Presentation method: Eletronic Poster

The early therapeutic intervention can change the natural course in spinal muscular atrophy type 1

Jéssica Kayene Souza Ferreira<fnref n="1" />, Flavia Nardes dos Santos<fnref n="1" />, Fernanda dos Santos Ribeiro<fnref n="1" />, Sarah Falcão Brasileiro Henriques<fnref n="1" />, Ana Paula Bastos Nogueira de Luca<fnref n="1" />, Sofia Russi<fnref n="1" />, Maria Lina Giacomino de Almeida Passos e Azevedo<fnref n="1" />, Patricia Selestrini<fnref n="1" />, Amanda Regina Farias Teixeira<fnref n="1" />

*Correspondence: jessicakayene@hotmail.com.

Abstract

**Case Presentation:** We'll present two cases of spinal muscular atrophy type 1 (SMA), in female patients, with different outcomes. Both had onset of symptoms within 3 m. (months) of life, with myofasciculation of the tongue, hypotonia/weakness/progressive muscle atrophy, with genetic testing revealing a homozygous deletion of exon 7/8 of the SMN1 gene and two copies of the SMN2 gene. In the first case, early diagnosis was possible due to the family history, and the chorionic villus sampling and PCR test were performed in utero. Treatment with nusinersen started at 35 days of life, followed by the application of zolgensma at 10 m. At 5 m., despite showing signs of respiratory and bulbar impairment (sweating, snoring, signs of dyspnea, occasional choking), requiring BIPAP, there were only 3 respiratory events up to 11 m., without serious complications. In addition, he presented progressive motor skills, with improvement in limb movement, reaching the maximum motor milestone of sitting without support at 11 m., with increasing scores on the CHOP INTEND (CI) scale: 22/64-3 days, 39/64-3 m., 48/64-5 m. and 60/64-11 m. In the

second case, the diagnosis was made late, at 8 m. of life. At this stage, the patient already had severe symptoms, such as severe hypotonia, signs of bulbar dysfunction (absence of cough reflex, sialorrhea) and respiratory failure (tachypnea, dyspnea, bell-chest and paradoxical breathing), with a score on the CI scale of 20/64. Despite starting nusinersen 3 weeks after diagnosis, the patient had acceleration of the course of the disease, needing to orotracheal intubation and gastrostomy, with several unsuccessful extubation attempts, however, after the fourth dose of nusinersen, motor gains in limbs were observed, along with a 5-point increase on the CI scale (25/64).

**Discussion:** SMA, previously considered fatal, has had its scenario altered with the emergence of disease-modifying therapies. Studies show that early treatment increases survival and improves motor, respiratory, and bulbar function, albeit to varying degrees.

**Final Comments:** It is crucial to implement effective strategies for the early diagnosis and treatment of SMA, given its enormous familial, social, and economic impact. Feasible measures include neonatal screening tests, more specialized centers for rare diseases, and standardized scales to assess clinical progression and therapeutic response, aiming for a greater understanding of the disease, which will result in gains in quality of life and life expectancy.

ID: 856

Area: Neuroinfections

Presentation method: Eletronic Poster

Multiple subdural empyema and deep vein thrombosis caused by Streptococcus constellatus after COVID-19: a case report

Renata Silva de Mendonça<fnref n="1" />*, Flora Cruz de Almeida Ximenes<fnref n="1" />, Larissa Baccoli de Souza<fnref n="1" />, Andreia Braga Mota Azzoni<fnref n="1" />, Ana Beatriz Arruda Carvalho de Oliveira<fnref n="1" />, Joemir Jábson da Conceição Brito<fnref n="1" />, Eric Oneda Sakai<fnref n="1" />, Leticia Pereira de Brito Sampaio<fnref n="1" />, Fernando Kok<fnref n="1" />

*Correspondence: resilvamendonca@gmail.com.

Abstract

**Case Presentation:** A thirteen-year-old patient was admitted to the emergency department with headache, fever and seizure. She did not have any relevant medical history, except for a history of COVID-19 infection two weeks prior. A brain CT scan revealed a sinusitis with parafalcine subdural empyema in the left frontal convexity and left cerebellar tentorium. Additionally, a hypodense area in the left frontal region was observed, possibly indicating cerebritis. The CSF analysis showed increased cellularity with neutrophilic predominance. A brain MRI also shows signs of recent venous thrombosis in the anterior portion of the superior sagittal, transverse and sigmoid sinus on the left side. A new parafalcine empyema was also observed on the right side. Neurosurgical and otolaryngology intervention were performed, followed by the initiation of anticoagulation. Streptococcus constellatus, identified through abscess fluid and blood culture, was the causative agent. The patient received prolonged antibiotic therapy for 52 days and underwent three additional neurosurgical interventions to control the infection, due to the emergence of new abscesses. She made a full recovery at the end of the treatment.

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

<footnote n="1">¹Universidade de São Paulo, Faculdade de Medicina, Hospital das Clínicas, São Paulo SP, Brazil.</footnote>
**Discussion:** S. constellatus is a commensal organism found in the oral, gastrointestinal, and genitourinary flora. It can be associated with various purulent infections, including odontogenic, pulmonary, intraabdominal, and, rarely, central nervous system infections. Typically, affected individuals have predisposing factors such as immunosuppression, a history of neurosurgery, oral and neck infections or dental procedures. However, in this case, no predisposing factors were identified that could be related to the development of the brain abscesses and thrombosis. This led us to believe that sinusitis might have been the predisposing factor. Pansinusitis is a well known risk factor to the development of subdural infection. It is also indicated that bacteria sinusitis and its potential complications as sinus thrombosis are known successors of viral infections but the complex features of COVID-19 may be especially related to them.

**Final Comments:** To our knowledge, this case is the fourth reported case of subdural empyema caused by S. constellatus following a COVID-19 infection in immunocompetent children. Despite the high risk of a fatal outcome, early and prolonged antibiotic treatment, along with surgical interventions, resulted in a complete recovery with no long-term sequelae.

ID: 857

## Area: Neurogenetics

### Presentation method: Eletronic Poster

**Isovaleric acidemia associated with an intellectual disability: case report**

Priscila Martins Câmara<fnref n="1" />, Tiago Rocha Araújo<fnref n="1" />, Pedro Guilherme Barros Tavares<fnref n="1" />, Débora Santos Mendes<fnref n="1" />, Henrique Innocencio de Paula<fnref n="1" />, Lisiane Seguti<fnref n="1" />, Jeanne Mazza<fnref n="1" />

### Abstract

**Case Presentation:** The subject of the study was a 15-years-old girl in the ninth grade of elementary school. She was diagnosed with isovaleric acidemia in the neonatal period through screening tests performed. Despite her being treated with L-carnitine, Biotin, L-Glycine and Metabolic Formula for her pathology, since entering school, the patient had performed poorly, especially in language and calculation subjects. Furthermore, she had difficulty making friends with people the same age as her and was socially isolated. The patient was then diagnosed with mild intellectual disability. **Discussion:** Isovaleric acidemia (IVA) is a hereditary metabolic disorder in which there is a inadequacy of isovaleryl-CoA dehydrogenase, an enzyme that catalyzes the third step in leucine catabolism. This metabolic alteration leads to an accumulation of isovaleric acid, isovaleryl-carnitine, 3-hydroxyisovaleric acid and isovalerylglycine. There are two forms of IVA, an acute and a chronic form. It may present as an acute episode of metabolic acidosis causing a drop in consciousness, coma, and death. The chronic form is associated with episodes of metabolic decompensation in catabolic states, manifesting itself through delayed neuropsychomotor development, which may not be present until the child is a year old. Although IVA is, largely, a metabolic disease, it can be presented with other clinical features. Some studies have shown that it can be associated with neurological deficits, such as motor syndromes and cognitive disabilities.

**Final Comments:** Isovaleric acidemia has a wide range of clinical forms of presentation, and there are forms that are

asymptomatic or with mild cognitive changes. In our patient, it started a standard course, but later on the disorder evolved with a mild intellectual disability. The purpose of this report is to show an uncommon finding in an organic aciduria.

ID: 858

## Area: Malformations of the central nervous system

### Presentation method: Eletronic Poster

**Refractory structural epilepsy associated with dandy walker variant and down syndrome: case report**

Emerson Faria Borges<fnref n="1" />, Larissa Rosa Passos<fnref n="1" />, Thayná Siqueira Lipienski<fnref n="1" />, Carolina Cabral Brandalizze<fnref n="1" />, Lisandra Coneglian Farias Rigoldi<fnref n="1" />, Michelle Silva Zeny<fnref n="1" />

### Abstract

**Case Presentation:** Male, 4-years-old non-consanguineous couple, with diagnosis of Down Syndrome, presumed during pregnancy and confirmed by karyotype. Throughout his life, he evolved with epilepsy and pneumonias with bronchospasm, in addition to hyperammonemia due to drugs. At 2 years, tics identified, lasting a few seconds of spontaneous resolution associated with neuropsychomotor regression, with gait disability and loss of axial tone. In magnetic cranial resonance, demonstrated discreet prominence of the liquoric space of the cistern infravremian, which admits differential with a small arachnoid cyst, alteration of the usual orientation of some cortical grooves in the transition temporal-cortical on the left, which are shallow, associated with a slight thickening of the regional cortex, with a malformative/dysplastic appearance, verticalized left hippocampal formation. Started treatment for epilepsy without seizure control. In conclusion, his neuroimage demonstrates the presence of a malformation temporo-occipital artery on the left, in addition to megacisterna magna and hypoplasia of cerebellar vermis, compatible with Dandy Walker variant. Currently in use of five FAC and ketogenic diet with partial control. His EEG pattern consists of focal epileptiform discharges of spike and sharp wave in multifocal projection, generalized discharges epileptiform polyspike and rapid paroxysmal activity grouped in very short bursts of up to 2 seconds. An epilepsy panel was requested.

**Discussion:** This congenital brain malformation is characterized by the presence of cystic malformations in the fossa posterior, associated with hypoplasia and/or agenesis of the cerebellar vermis. It is estimated that around 3% of hydrocephalus are caused by DW, with teratogenic and genetic factors responsible for such a cerebellar disorder, which characterizes a multifactorial inheritance pattern. Estroff/Imataka et al correlated various types of chromosomal abnormalities on DW, but none associated with trisomy 2. In the literature, the coexistence of Down syndrome and DW is uncommon and has been reported in rare cases. Therefore, your prognosis and impact on development has yet to be fully elucidated.

**Final Comments:** The great challenges are related to the control of seizures and in addition to the presence of recurrent pneumonia commonly observed in patients with trisomy due to abnormalities observed in the alveolar development and environmental factors.

<footnote n="1">¹Hospital Universitário de Brasília, Brasília DF, Brazil.</footnote>

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

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

<footnote>*Correspondence: emersonfariab@gmail.com.</footnote>
ID: 860

Area: Neurogenetics

Presentation method: Eletronic Poster

Wolf-Hirschhorn syndrome: a case report

Juliana Coelho Xavier¹, Carla Jéssica da Silva Fernandes¹, Ezio Junio Gonçalves Nunes¹*, Renata Andrade Oliveira¹, Janeusa Rita Leite Primo Chagas¹, Francisco Monteiro Meneses¹, Cinthya Maria Neves Varandas¹, Madson do Nascimento Lopes¹

¹Obras Sociais Irmã Dulce, Hospital Santo Antônio, Salvador BA, Brazil.

*Correspondence: eziojunionunes@hotmail.com.

Abstract

**Case Presentation:** We report a case of Wolf-Hirschhorn Syndrome which was followed up by the Pediatric Neurology team at Hospital Santo Antônio. Patient Y.L.C.S., 1 year and 19 days old, female, from Cícero Dantas - BA, with a history of prolonged hospitalization in the first four months of life due to investigation of genetic syndrome and congenital heart disease. At seven months, the patient developed an epileptic syndrome with three distinct seizure semiologies: focal seizures with motor automatisms, myoclonic seizures in clusters and atypical absence seizures. Initially, phenobarbital was started, then changed to carbamazepine due to inadequate seizure control. With the introduction of this, the patient evolved with worsening of the crises (myoclonus and atypical absence), and was then changed to lamotrigine associated with clobazam, progressing with adequate control of clinical and electroencephalographic seizures. On examination, she presented with global hypotonia, global neurodevelopmental delay, microcephaly, sacral dimple and craniofacial dysmorphisms (bilateral preauricular fossa, bilateral preauricular appendix, ocular hypertelorism). EEG showed generalized spike-wave discharges and neuraxial MRI without abnormalities. A karyotype was performed, which showed the deletion of the short arm of the 4:4p-chromosomes, confirming Wolf-Hirschhorn Syndrome. The patient is being monitored by a multidisciplinary team and is undergoing adjustment of antiepileptic medications.

**Discussion:** Wolf-Hirschhorn syndrome is a rare congenital syndrome associated with microdeletion of the short arm of chromosome 4 (del 4p16.3) that encodes the MSX1 gene, with an incidence of 1:50,000 births, and twice as frequent in females. It is associated with multiple birth defects, such as prominent glabella, high arched eyebrow, wide nasal bridge, hypertelorism, microcephaly with micrognathia, cleft lip and/or palate, in addition to congenital heart defects and neurological manifestations (seizures, epilepsy, mental retardation, muscular hypotonia). Epilepsy is one of the major concerns for parents and professionals caring for children with WHS. Seizures tend to occur in over 90% of patients, with onset within the first 3 years of life, and a peak incidence at around 6-12 months of age.

**Final Comments:** Due to the rarity and diagnostic difficulty, the recognition and reporting of cases is imperative for better understanding and management of patients.

ID: 864

Area: Neuroimmunology, multiple sclerosis and other demyelinating diseases

Presentation method: Eletronic Poster

Pediatric optic neuritis with non-reactive antibodies: case report

Kaline Luna Castor Camelo¹,²*, Ana Beatriz Teles de Almeida¹,², Lara Maria Barros de Souza¹,², Maria Emanuelle Ferreira de Morais¹,², Milena Beatriz Benício Neves¹,², Ingrid Lacerda Pessoa¹,², Ana Clara Guilherme Rodrigues¹,², Bianca Etelvina Santos de Oliveira¹,², Gilvan Valdevino Costa Filho¹,²

¹Centro de Referência em Esclerose Múltipla da Paraíba, João Pessoa PB, Brazil.

²Centro Universitário de João Pessoa, João Pessoa PB, Brazil.

*Correspondence: kalinecamelo@gmail.com.

Abstract

**Case Presentation:** A 10-years-old, male, without comorbidities, evolved with low visual acuity in the right eye and amaurosis in the left eye. The fundoscopy revealed significant bilateral optic disc edema. Brain Tomography and brain Magnetic Resonance Imaging (MRI) were performed, without any abnormalities. Laboratory tests showed reactive cytomegalovirus IgG, positive IgG for Epstein-Barr virus, positive IgM for Zika Virus and high Complement C4, with values of 43mg/ml. In question, Anti-QP-4, Oligoclonal Bands and IgG for MOG were non-reactive.

**Discussion:** The optic neuritis (OS) is defined as a pathological process characterized by inflammation of one or both optic nerves. The visual prognosis and the risk of recurrent lesions vary depending on their etiology and involvement. Pediatric optic neuritis is usually bilateral and anterior associated with papillitis. It can be associated with viral infection, although the pathogen is rarely identified or can be a manifestation of an acquired demyelinating syndrome. Usually, optic neuritis has a good prognosis in this age group. At this case, the optic neuritis didn't present positive antibodies for MOGAD, Multiple Sclerosis and Neuromyelitis Optica Spectrum Disorder, but as an isolated syndrome. Recognizing the disease can help us to provide a better treatment to the patient and clear prognosis.

**Final Comments:** Although the patient in question was double seronegative, he had a severe visual loss. Anti-AQP-4 and Anti-MOG antibodies are indispensable in the investigation of pediatric optic neuritis in order to make the differential diagnosis between Multiple Sclerosis, Neuromyelitis Optica Spectrum Disorder and MOGAD. Despite being rare, the optic neuritis can cause serious repercussions in the patient. However, the course of optic neuritis in the pediatric age group usually has a good prognosis. The treatment consists of reducing inflammation and relieving symptoms, in order to improve visual acuity.

ID: 865

Area: Epilepsies

Presentation method: Presentation Poster

SCN2A encephalopathy clinical and electroencephalographic response to ketogenic diet: a case report

Isabelle Salgado Castellano¹*, Ana Cláudia Cândico¹, Sarah Diógenes Alencar¹, Ana Carolina Piauilino Santos Falcão¹, Larisse Souza de Morais Sommavilla¹, Ana Carolina Coan¹

¹Universidade Estadual de Campinas, Campinas SP, Brazil.

*Correspondence: isabellecastellano@gmail.com.

Abstract

**Case Presentation:** A two-year-old presented with refractory seizures since the neonatal period. She was born at 37 weeks
to unrelated healthy parents and had clinical seizures since the 18th day of life associated with developmental delay. Gene testing revealed a pathogenic variant in the SCN2A gene at chr2:165.313.655 G>GT. Electroencephalogram (EEG) showed persistent paroxysms of multifocal epileptiform activity intermixed with high amplitude and irregular theta slow wave constituting a discontinuous pattern of "pseudo burst-suppression", typical of SCN2A-developmental and epileptic encephalopathy (DEE). She had been treated with Phenobarbital, Valproate, Levetiracetam and Clobazam with no response. High dose carbamazepine partially reduced the seizure frequency, but she persisted with at least ten events per day. Classic ketogenic diet was started and after a week of 3:1 ratio the patient became completely seizure-free. Besides seizure control, epileptiform discharges disappeared from EEG and cerebral electrical activity almost normalized, with only mild background abnormality remaining.

**Discussion:** Mutations in the SCN2A gene have been associat-
ed with a number of encephalopathy phenotypes, and are
often related to refractory epilepsy. Sodium-blockers may
reduce the seizures in patients with gain-of-function muta-
tions, but seizure-freedom is extremely rare in this pheno-
type. In our report, the infant had never achieved full control
of the seizures until the introduction of ketogenic diet.
Importantly, the interictal epileptiform discharges on EEG
also completely disappeared. Normalization of EEG patterns
in the DEEs is the exception. Since there is at least a theoreti-
cal understanding that frequent epileptiform discharges con-
tribute to the encephalopathy in these patients, treatments
that improve not only clinical seizures but also the EEG
abnormalities are very much needed.

**Final Comments:** Despite the lack of larger scale studies, we believe ketogenic diet could be an early choice in treatment of refractory epilepsy related to the SCN2A gene when antiepileptic drugs are ineffective.

ID: 866

Area: Neurogenetics

Presentation method: Eletronic Poster

Xia-Gibbs syndrome (XGS): a case report

Mariana de Castro Ferreira<fnref n="1" />, André Augusto Corrêa Freitas<fnref n="1" />, Ana Carolina Mendes Sá<fnref n="1" />, Pedro Avelar Neves Furman<fnref n="1" />, Luísa Lucena Barbosa de Medeiros<fnref n="1" />

*Correspondence: m.ferreira00@gmail.com.*

Abstract

Case Presentation: LDSA, 3 years old, born at term, weighing 3.080 g, 47 cm long, 34.5 cm head circumference, Apgar score 9/9. Cardiac alterations were suspected in the maternity ward, an echocardiogram showed a patent foramen ovale and a small persistence of ductus arteriosus. The parents noted global hypotonia 03 months, when started follow-up with Pediatric Neurologist. Congenital hypothyroidism and impacts due to malformations of the central nervous system were excluded. MRI shows a prominent left retrocerebellar subarachnoid space, with no clinical connotation, and a videoelectroencephalogram shows moments of gaze stoppage and hypoactivity, with no change in brain electrical activity. Child with global delay in neuropsychomotor development and suspected autism spectrum disorder, presented cephalic support at 6 months, sitting without support at 1 year and 1 month, at 3 years old stands up and walks with

support, speech delay, speaks few words to date. On physical
examination, she showed global hypotonia, hypertrichosis,
frontal protuberance, sinopris, small nose, bluish sclera,
megalocornia, mild micrognathia, small midface, posteriorly
rotated ears, brachycephaly, partial Siamese folds. Evaluation
carried out with Geneticist, karyotype study revealed 46, XX
chromosomes, genetic microarrays were also normal. Ulti-
mately, exome sequencing revealed the pathogenic Xia-Gibbs
Syndrome (XGS), with de novo missense variants of the
molecular picture. The patient's findings do not suggest
intellectual disability associated with the BRPF1 gene and
the main mechanism of the disease in the gene and by loss of
function.

Discussion: The Xia-Gibbs syndrome (XGS) is an autosomal dominant disorder, that include in most affected individuals delayed motor milestones, severe or absent speech delay, moderate to severe cognitive impairment, global hypotonia, structural brain anomalies. It may also include sleep apnea, movement disorders (ataxia and bradykinesias), short stature, seizures, eye abnormalities (such as bluish sclera), autism spectrum disorder, scoliosis. The diagnosis of the Syndrome is established on a set of suggestive clinical findings associated with pathogenic germline variants in AHDC1, identified by molecular genetic testing.

**Final Comments:** It is essential to keep multidisciplinary follow-up of these patients, in order to stimulate and guarantee the greatest potential for neuropsychomotor development.

ID: 867

Area: Neurogenetics

Presentation method: Eletronic Poster

Schmid-Fraccaro syndrome: case report

Leticia Souza Teixeira<fnref n="1" />*, Ester Mara Rodrigues Freire<fnref n="1" />, Ana Beatriz Porfirio Teixeira Guedes<fnref n="1" />, Luan Nogueira Duarte<fnref n="1" />, Ivna Felice Silva Matos<fnref n="1" />, Wallace William da Silva Meireles<fnref n="1" />, Erlane Marques Ribeiro<fnref n="1" />

*Correspondence: leticialele.st@hotmail.com.*

Abstract

Case Presentation: A 4-month-old boy was seen at the genet-
ics outpatient clinic of a public tertiary hospital in the state of
Ceará with plagiocephaly, facial asymmetry, preauricular
appendage, congenital heart disease, and bilateral cryptor-
chidism. During the course of treatment, the child underwent
cardiac surgery and orchioopexy and experienced delayed
neurological development, learning disability, and febrile
seizures at the ages of 6 and 7. Anthropometric data on
weight, height, and cranial circumference were normal. The
child was the offspring of young, healthy, non-consanguine-
ous parents. There were no perinatal complications. Comple-
mentary exams showed an echocardiogram with anomalous
pulmonary vein total drainage, a CT scan of the cranium with
plagiocephaly, normal fundus and abdominal ultrasounds, a
normal skeletal X-ray, and a 47XY karyotype with a marker
chromosome in 20 cells. A CGH-array was necessary to define
the chromosomal disorder, and the diagnosis was a dup
22q11.1q11.21. Genetic counseling was provided, and kar-
yotyping of the parents was requested, but due to difficulty
accessing this test, it was not performed. The child remains
under multidisciplinary outpatient care.

Discussion: Dup 22q11.1-q11.21, Schmid-Fraccaro syndrome, or Cat-eye syndrome is a rare genetic condition (1-9:100,000)

<footnote n="1">¹Hospital da Polícia Militar de Minas Gerais, Belo Horizonte MG, Brazil.</footnote>

<footnote n="1">¹Unichristus, Fortaleza CE, Brazil.</footnote>
that affects the development of the eyes, kidneys, heart, and cranial bones due to additional material on chromosome 22. The clinical variability is vast, making it impossible to determine the disease based on its clinical picture. In the case presented here, the child does not have the signs and symptoms that typically occur in this syndrome, probably due to the size of the duplicated genetic material. Neurological impairment is common in these cases.

**Final Comments:** The etiological diagnosis of the presented case was possible through the application of CGH-array. Molecular testing has contributed to the identification of cases of congenital anomalies. Although this case is rare, it is common to have patients with a requirement for CGH-array due to congenital anomalies associated with delayed neurological development and/or learning disability.

ID: 868

Area: Neurogenetics

Presentation method: Presentation Poster

First case of use of cerliponase alfa in a child with neuronal ceroid lipofuscinosis type 2 in Bahia

Érica Otoni Pereira Miranda<fnref n="1" />,<fnref n="2" />, Lukas Santos Freire<fnref n="1" />,<fnref n="2" />, Giovana Andrade de Oliveira<fnref n="1" />,<fnref n="2" />, Ícaro Giovani Barros Carregosa<fnref n="1" />,<fnref n="2" />, Rebeca Lima de Almeida Santos<fnref n="1" />,<fnref n="2" />, Qesya Rodrigues Ferreira<fnref n="1" />,<fnref n="2" />, Odivan de Souza Lopes<fnref n="1" />,<fnref n="2" />, Emmanuel Santos Trindade<fnref n="1" />,<fnref n="2" />, Lorena Tanajura Oliveira<fnref n="1" />,<fnref n="2" />

Abstract

**Case Presentation:** Female patient, 04 years and 10 months old, daughter of consanguineous marriage, consults neuro-pediatric in 2018 with a 1-year history of seizures lasting less than 5 minutes, in which she woke up, staring, without interaction and with postictal imbalance. A 2017 cranial magnetic resonance imaging (MRI) showed alterations in the periventricular white matter and in the subcortical area of the occipital lobes. She was treated with different antiepileptics drugs, achieving seizure control with high dose oxcarbazepine in 2018. At the time, she had ataxic gait with tremors, needing support, language limited to monosyllabic and punctual speeches, and low visual capacity. Whole exome sequencing showed a homozygous pathogenic variant in the TPP1 gene, diagnosing Neuronal Ceroid Lipofuscinosis type 2 (CLN2). Thus, in October 2018, cerliponase alfa 150 mg was started, in 2 vials, biweekly, after neurosurgical insertion of an intraventricular device. She evolved with improvement in horizontal nystagmus, good communicative interaction and normal motor development, absence of speech, global hyperreflexia, clonus in the lower limbs and thumbs in adduction. In addition, she has an important cortical visual impairment. A 2021 cranial MRI shows cerebellar and cerebral atrophy. Now, she still uses cerliponase alfa, besides oxcarbazepine, levetiracetam, sodium valproate and clobazam.

**Discussion:** CLN2 is a rare genetic disease of autosomal recessive inheritance, characterized by the deposit of lipid content within neuronal lysosomes due to tripeptidyl peptidase 1 (TPP1) deficiency. The main symptoms are seizures and progressive motor dysfunction and visual loss starting in childhood. Lately, enzyme replacement therapy with cerli-

ponase alfa (recombinant form of TPP1) has gained prominence as a potential modifier of disease progression. Studies that followed patients using biweekly cerliponase alfa administered via an intraventricular device showed a slower decline in motor and language functions in a short and long term. This case showed considerable delay in the disease progression, despite erratic drug usage, as the family relied on traveling to another city for administration, highlighting its potential.

**Final Comments:** Cerliponase alfa is the first specifically targeted pharmacological treatment to CLN2. It was associated with a reduction in the rate of decline in motor and language functions, as evidenced in the present report of the first patient to use this treatment through the SUS in Bahia.

ID: 869

Area: Others

Presentation method: Eletronic Poster

Cross-cultural adaptation and content assessment adaptive behavior assessment system intervention plan (ABAS-3) for parents and caregivers of children from 0 to 5 years old

Fiama Santos Jesus<fnref n="1" />, Priscila Jesus Andrade<fnref n="1" />, Maria Cristina Triguero Veloz Teixeira<fnref n="2" />, Tatiana Pontrelli Mecca<fnref n="1" />

Abstract

**Background:** Children with neurodevelopmental disorders and/or neurological conditions have adaptive behavior (AB) impairments that negatively impact their quality of life. AB refers to the conceptual, social and practical skills that make it possible to meet the paradigms of personal and social independence employed by the community. Such skills should be stimulated early, however, there is a lack of standardized intervention/stimulation protocols for early childhood.

**Objective:** To carry out the cross-cultural adaptation and verify evidence of content validity of the Adaptive Behavior Assessment System (ABAS-3) intervention plan for parents/caregivers of children between 0 and 5 years old.

**Methods:** 5 steps were taken to adapt 241 intervention strategies divided according to 10 domains (communication, pre-academic skills, use of community resources, health and safety, leisure, socialization, self-regulation, motor skills, self-care and home life): (1) translation of the intervention by a translator, (2) semantic, idiomatic and conceptual adjustments by a psychologist specializing in child development, (3) assessment of adaptation by two psychologists specializing in child development. Each of the 241 strategies was scored on a Likert scale from 0 (Strongly Disagree) to 3 (Strongly Agree) for semantic, idiomatic, and conceptual equivalence, (4) Adjustments in items without equivalence, (5) Analysis of the adequacy of the synthesis by 30 judges from the areas of health and education (3 judges per area) and two parents/caregivers of the target population, (6) Elaboration of the final version after analysis of the judges and target population.

**Results:** More than 70% of the strategies showed agreement between the judges regarding their complete conceptual, idiomatic and semantic adequacy with few adjustments. Of the 241 strategies, only 41 (17%) had a low content validity index, requiring modifications. 92% of the items presented semantic adequacy and 87% idiomatic and conceptual adequacy according to the analysis of parents/caregivers. The

<footnote n="1">¹Universidade Estadual do Sudoeste da Bahia, Vitória da Conquista BA, Brazil.</footnote>

<footnote n="2">²Universidade Federal da Bahia, Vitória da Conquista BA, Brazil.</footnote>

<footnote>*Correspondence: ericaotoni15@gmail.com.</footnote>

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

<footnote n="2">²Universidade Presbiteriana Mackenzie, São Paulo SP, Brazil.</footnote>

<footnote>*Correspondence: fiamasantos092@gmail.com.</footnote>
Kappa indices were 0.73, 0.68 and 0.68 for each aspect, respectively.

**Conclusion:** There was evidence of adequacy of the content, considering the semantic, idiomatic and conceptual equivalences of the ABAS-3 interventions, being an appropriate material for health professionals to use in the guidance of parents/caregivers in early childhood.

ID: 870

**Area: Malformations of the central nervous system**

**Presentation method: Eletronic Poster**

**Cortical malformation and structural epilepsy: a case report**

Ana Paula Bastos Nogueira de Luca¹*, Aline Chacon Pereira¹, Hanid Fontes Gomes¹, Sarah Falcão Brasileiro Henriques¹, Jéssica Kayene Souza Ferreira¹, Maria Mariana Muniz Jorge de Melo¹, Fernanda dos Santos Ribeiro¹, Sofia Russi¹, Patrícia Selestrini¹

¹Universidade Federal do Rio de Janeiro, Instituto de Puericultura e Pediatria Martagão Gesteira, Rio de Janeiro RJ, Brazil.

*Correspondence: anapaula.deluca17@gmail.com.

**Abstract**

**Case Presentation:** ASP, male, epilepsy onset at 2 years, waking and sleeping, focal seizure semiology, with ocular supraversion or lateralization, limb hypertonia, and cephalic deviation. He evolved with language and cognitive delay, with no family history of neurological diseases. At 8 years of age, he came to the service reporting generalized seizures 1 month ago, with maintenance of focal seizures, aura with right eye pain, using low dose of sodium valproate and clobazam. Gradual dose adjustment with no response, change to Carbamazepine and discontinuation of use due to drowsiness. Changes in neurological examination: difficulty in gaze fixation, divergent strabismus mainly in the right eye. EEG: temporo-occipital paroxysms on the right. CBT: cortico-subcortical hypodensity, in occipital and posterior parietal region to the right. By genetics: intellectual deficit due to epileptic cause. Recent EEG: asymmetrical posterior dominant rhythm and slowed D, slowing and abundant epileptiform activity in right temporo-parieto-occipital region, confirming structural hypothesis. Skull MRI revealed prominent right occipital lobe with gyral simplification (pachygyria). Oxcarbamazepine started at last visit for better tolerability.

**Discussion:** Facing a picture of early refractory epilepsy and global developmental delay (epileptic encephalopathy), with focal seizures, we should question the hypothesis of cortical developmental malformation. The patient had a right posterior dysplasia (pachygyria), a cortical malformation in which neuronal migration is abnormal. The aura and seizure semiology indicated the location of the lesion, as the most common non-visual symptom in occipital epilepsies is the ocular version. Orbital pain is characteristic of parietal spreading. EEG with sustained slowing in the posterior region ratified the hypothesis, confirmed with imaging. It is important to identify the ictal onset and classify the crisis for best therapy. Anticrisis drugs (ACF) should be chosen according to the semiology and if there is refractoriness, surgical evaluation is required.

**Final Comments:** It is important that neuropediatricians are able to evaluate the possibility of a cortical developmental malformation in cases of refractory epilepsies where treatment with CAF has already been directed to the seizure semiology. Focal seizure semiology and EEG with synchronous focal change suggest investigation of structural epilepsy.

Thus, imaging should be requested directing to the hypothesis and localization.

ID: 871

**Area: Neurogenetics**

**Presentation method: Eletronic Poster**

**GATAD2B-associated neurodevelopmental disorder (GAND) syndrome: a case report**

Mariana de Castro Ferreira¹*, André Augusto Corrêa Freitas¹, Ana Carolina Mender Sá¹, Pedro Avelar Neves Furman¹, Luísa Lucena Barbosa de Medeiros¹

¹Hospital da Polícia Militar de Minas Gerais, Belo Horizonte MG, Brazil.

*Correspondence: m.ferreira00@gmail.com.

**Abstract**

**Case Presentation:** LFPC, age 5, daughter of non-consanguineous and healthy parents, born at 33 weeks of gestational age, vaginal delivery with polyhydramnios, Apgar score of 3/6. Was born with apnea, hypotonia and bradycardia and admitted to an intensive care unit for invasive ventilatory support for 04 days. Negative blood cultures. No history of seizures, with an unaltered head ultrasound and normal neonatal screenings. Karyotype 46, XX, requested while still in the NICU, as they noticed low implantation of ears and alteration of the cranial conformation since birth. Parents noted global delay in neuropsychomotor development at 6 months old, showing global hypotonia, weight gain difficulties, weak crying and vomiting, initiated with follow-up with a Pediatric Neurologist and therapies, Speech Therapy, Psychology and Occupational Therapy. Started autonomous walk at the age of 2, speaks few words, has good interaction with people, has a good understanding of orders despite a reduced vocabulary. On physical examination, macrocephaly was noted, dolichocephaly, wide font, facial hypomimia, sparse eyebrows, shiper-folded ear with amputation of the left lobe, in addition to clinodactyly of the fifth finger in both hands. Brain MRI showed a slight prominence of the subarachnoid space in the frontal and temporal convexities, suggesting immaturity of the cerebrospinal fluid drainage system. Electroencephalogram noted mild to moderate diffuse disorganization of the basic activity. Evaluation carried out with Geneticist, with genetic microarrays normal. Ultimately, exome sequencing revealed the presence of pathogenic mutation in the GATAD2B gene (NM_020699.4 c.346C>T p. (arg116*). Therefore, the patient presents clinical phenotype, confirmed by molecular examination of GATAD2B-associated neurodevelopmental disorder (GAND) Syndrome.

**Discussion:** GAND Syndrome includes phenotypes with intellectual disability, global developmental delay with limited speech and language, and characteristic face. Several additional phenotypic features were recently identified, including polyhydramnios, neonatal feeding difficulties, infant hypotonia, delayed motor milestones, long, thin fingers, ocular abnormalities (strabismus). It may also include aortic valve defects, epilepsy (focal and/or primary generalized), abnormal brain MRI, and macrocephaly.

**Final Comments:** It is essential to keep multidisciplinary follow-up of these patients, in order to stimulate and guarantee the greatest potential for neuropsychomotor development.
ID: 872

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

**Presentation method: Eletronic Poster**

**Norse after the first dose of the BNT162b2 vaccine**

Renata Silva de Mendonça<fnref n="1" />*, Cristiani Rocha lima Cruz<fnref n="1" />, Ana Beatriz Arruda Carvalho de Oliveira<fnref n="1" />, Daniel Shoji Hayashi<fnref n="1" />, Joemir Jábson da Conceição Brito<fnref n="1" />, Mariana Piva da Costa<fnref n="1" />, Daiane Maryane Cardoso Santos<fnref n="1" />, Yan Victor Araujo Rodrigues<fnref n="1" />, Renata Barbosa Paolilo<fnref n="1" />

**Abstract**

**Case Presentation:** A previously healthy 16-year-old female of African Brazilian ethnicity was admitted to the emergency department due to seizures, characterized by a fear sensation, evolving into behavioral arrest and a bilateral tonic-clonic seizure, lasting for 5-10 minutes. She had complained of a headache a week before. There was no history of fever, infection, previous seizure episodes or epilepsy on her family. She received the first dose of BNT162b2 vaccine 25 days before seizure onset. On the same day, she developed frequent seizures without consciousness recovery between the episodes. Treatment with initial anti-seizure medication (diazepam, phenytoin, phenobarbital) failures to abort seizures. The patient needed continuous IV midazolam, propofol, and ketamine. Along with topiramate, lamotrigine and oxcarbazepine. Electroencephalography (EEG) disclosed seizures with acute waves in the right frontotemporal area. Initial general exams were normal, as well as brain MRI and CSF analysis, including infection investigation. Antibody against N-methyl-D-aspartate (NMDA) receptor also resulted in negative. The patient was treated with IV methylprednisolone, immunoglobulin, IV antibiotics and antivirals. After tapering anti-seizure drugs, she presented with complex visual hallucinations with electrographic correlation, persisting with unmotivated laughter, disconnected answers, memory loss and sleep disorders. A new CSF analysis yielded normal results, and a new brain MRI disclosed leptomeningeal enhancement. Oral anti-seizures drugs were adjusted with resolutions of symptoms. The patient was discharged five weeks after the onset with oral levetiracetam, topiramate, clobazam, phenobarbital and quetiapine. At her last outpatient visit neurologic examination was normal. She was already at school without learning difficulty.

**Discussion:** Although mild and self-limited neurological symptoms following vaccination are common, major neurological complications have been scarcely reported despite the unproven casualty. To our knowledge this is the first reported case after the BNT162b2 vaccine. One adult presented with NORSE after the Moderna vaccine.

**Final Comments:** Vaccination was considered the etiology of NORSE in this case due to temporal association and the lack of risk factors of the epilepsy in the patient. Vaccinations against COVID-19 are considered one of the most effective strategies to control the pandemic, nonetheless healthcare providers should be aware of the possibility of post vaccination epilepsy.

ID: 873

**Area: Neuroinfections**

**Presentation method: Presentation Poster**

**Is human herpesviruses 6/7 detection always pathological?**

Daniel Shoji Hayashi<fnref n="1" />*, Ana Beatriz Arruda Carvalho de Oliveira<fnref n="1" />, Cristiani Rocha Lima Cruz<fnref n="1" />, Mariana Piva da Costa<fnref n="1" />, Murillo Bruno Braz Barbosa<fnref n="1" />, Leandro Alves Mendes<fnref n="1" />, Larissa Baccoli de Souza<fnref n="1" />, Renata Silva de Mendoça<fnref n="1" />, Letícia Pereira de Brito Sampaio<fnref n="1" />

**Abstract**

**Case Presentation:** Case A: 14-year-old female, history of headache, fever, and respiratory symptoms. COVID-19 positive through antigen-based testing. Symptoms persisted for 1 week, when the patient presented with intense headache, vomiting, and drowsiness. Upon evaluation in the emergency room, neck stiffness was noted, and ceftriaxone was initiated. Cerebrospinal fluid (CSF) showed a cell count of 1275/mm³ with predominance of neutrophils, glucose of 30 mg/dL, and protein level of 101 mg/dL. Peripheral blood culture was positive for Streptococcus constellatus. The patient developed subdural empyema and the culture of its drainage confirmed the same pathogen. Viral panel examination revealed a positive PCR result for Human herpesviruses 6/7 (HHV-6/7). Case B: 8-year-old male, history of irritability associated with ptosis of the right eyelid and altered extrinsic and intrinsic ocular motility of the same eye at around 1 year of age. Brain MRI showed hyperintense right III cranial nerve, and CSF analysis showed no cytological or biochemical changes. Pulse therapy for 5 days was performed, resulting in complete resolution. Subsequently, the CSF PCR test revealed a positive result for HHV-6/7. In the follow-up, the patient was diagnosed with recurrent painful ophthalmoplegic neuropathy, later characterized as associated with episodes of headache. At 5 years old, a repeat CSF examination showed a positive PCR result for HHV-6/7. Case C: 14-year-old male presented with bilateral visual impairment associated with bilateral ocular pain, worse on the right side, without signs of ocular redness. After 4 days, bilateral amaurosis developed. Investigation with CT angiography of the skull and brain MRI showed no abnormalities. CSF analysis showed no cytological or biochemical changes but a positive PCR result for HHV-6/7.

**Discussion:** We present here three cases in which the clinical relevance of HHV-6/7 detection in the CSF is questioned. There is a significant genetic similarity between these two viruses. Both have the ability to cause latency, asymptomatic reactivation, and, in the case of HHV-6, it can be integrated into chromosomal DNA. Therefore, results should be analyzed with caution to not misinterpret a positive HHV-6/7 test.

**Final Comments:** CSF detection of HHV6/7 is not always pathognomonic of an infection to be treated.

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

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

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

<footnote>*Correspondence: daniel.shoji@hotmail.com.</footnote>
ID: 874

**Area: Headaches and other non-epileptic paroxysmal disorders**

**Presentation method: Presentation Poster**

**Relapsing painful ophthalmoplegic neuropathy: a rare case of migraine that should be remembered**

Andreia Braga Mota Azzoni<fnref n="1" />*, Fernando Kok<fnref n="1" />, Leandro Alves Mendes<fnref n="1" />, Cristiani Rocha Lima Cruz<fnref n="1" />, Joemir Jábson da Conceição Brito<fnref n="1" />, Daniel Shoji Hayashi<fnref n="1" />, Ana Beatriz Arruda Carvaho de Oliveira<fnref n="1" />, Larissa Baccoli de Souza<fnref n="1" />, Renta Barbosa Paolilo<fnref n="1" />

**Abstract**

**Case Presentation:** A 9-year-old boy who presented irritability and palpebral ptosis at the age of 9 months, associated with impaired eye movement and mydriasis on the right. He underwent corticosteroid therapy with improvement of symptoms. In the same year, in the context of steroid weaning, he had two episodes of recurrent irritability and ptosis. Episodes of headache and ptosis were recurrent, with a frequency of 3 to 4 episodes, in the subsequent two years and in 2019 there was only one episode. In the last four years, outpatient follow-up still with corticosteroid therapy, evolving with headache described as moderate intensity, pulsating, with photo and phonophobia, nausea, with weekly frequency, without associated ocular component. In March of this year, he experienced a worsening pattern of the headache associated with ptosis, mydriasis and change in eye movement to the right. It presents MRI in the period of crises with a rounded image in the cisternal segment of the oculomotor nerve in the interpeduncular cistern on the right, which improves with resolution. CSF analyzes were normal, except for HHV6 positivity.

**Discussion:** Recurrent Painful Ophthalmologic Neuropathy (RPON) is a rare neurological disorder. Classically described as a variant of migraine, with a change in concept, it is now accepted as an inflammatory neuropathy. It is described as ocular cranial nerve palsies within a few days and gradual resolution of symptoms over time. It is a diagnosis of exclusion and remains closely associated with migraine. The average age of the first attack is 8 years, but it varies between 7 months to 50 years. The headache is mostly of a migraine pattern and in children it can manifest itself as irritability and restlessness and can last for days to weeks. The involvement of the oculomotor nerve is the most seen, involving the pupil and with ptosis, but any oculomotor nerve can be affected. Most patients will present with abnormal oculomotor nerve enhancement in brain MRI, typically in the nerve root exit zone at the Interpeduncular cistern that tends to improve after the attack. The natural course of an episode is the spontaneous resolution of the nerve palsy over days to months. Corticosteroids are a tool that help in a faster recovery of the condition.

**Final Comments:** RPON is an uncommon and possibly heterogeneous disorder, the first attack is predominantly during childhood and adolescence. Overall prognosis is good for individuals, but permanent nerve damage can accumulate with repeated attacks.

ID: 875

**Area: Movement disorders**

**Presentation method: Presentation Poster**

**Spinocerebellar ataxia type 42 with variant of uncertain significance in CACNA1G gene: case report**

Maria Mariana Muniz Jorge de Melo<fnref n="1" />*, Sarah Falcão Brasileiro Henriques<fnref n="1" />, Patricia Selestrini<fnref n="1" />, Sofia Russi<fnref n="1" />, Maria Lina Giacomino de Almeida Passos e Azevedo<fnref n="1" />, Amanda Regina Farias Teixeira<fnref n="1" />, Jéssica Kayene Souza Ferreira<fnref n="1" />, Hanid Fontes Gomes<fnref n="1" />, Aline Chacon Pereira<fnref n="1" />

**Abstract**

**Case Presentation:** RFR, 11 years old, presented with global retardation in neuropsychomotor developmental milestones and a previous diagnosis of Autistic Spectrum Disorder. At 6 years of age, he started having episodes of bilateral tonic-clonic and focal dysperceptive seizures. He took carbamazepine, without response, with partial control with valproic acid. One year later, he began to present dysmetria, chorea of the upper limbs and trunk ataxia, besides findings such as ocular and retroauricular telangiectasias. Metabolic screening and alpha-fetoprotein dosage were performed, without alterations. Magnetic resonance imaging of the brain demonstrated hyperintensity on T2 and Flair images involving periventricular white matter, especially near the atria of the lateral ventricles, besides slight ectasia of the posterior horns of the lateral ventricles. Electroencephalogram with an encephalopathy pattern and no discharges. A genetic panel was performed and identified a variant of uncertain significance, described as NM_018896.5, in the CACNA1G gene, associated with spinocerebellar ataxia type 42. The patient presents with a slowly progressive evolution of cerebellar symptoms since its onset.

**Discussion:** Spinocerebellar ataxias (SCAs) constitute a heterogeneous group of neurodegenerative disorders. SCA 42 is a rare subtype, with an estimated prevalence of less than 1 per 1 000 000 individuals. It has autosomal dominant inheritance and is a mutation caused by pathogenic variant in the calcium channel 1G (CACNA1G) gene that encodes T-type voltage-dependent calcium channels, widely expressed in the central nervous system, playing an important role in the regulation of membrane potential and calcium-mediated signaling pathway. Thus, mutations can impair cell behavior and cause neurodegenerative disorders. It has great clinical and genetic variability, a slowly progressive course, and variable age of onset and severity. It presents clinical signs such as ataxia, dysarthria, and alterations in neuropsychomotor development, as observed in the case described. Treatment has no proven efficacy. Early multidisciplinary therapies help to improve quality of life.

**Final Comments:** Spinocerebellar ataxia type 42 is a rare subgroup of a heterogeneous group of neurodegenerative diseases. It shows great clinical variability, and its follow-up is important. Early diagnosis helps in genetic counseling and patient support

<footnote n="1">¹Universidade de São Paulo, Faculdade de Medicina, Departamento de Neurologia Infantil, São Paulo SP, Brazil.</footnote>

<footnote>*Correspondence: andreia-braga@hotmail.com.</footnote>

<footnote n="1">¹Universidade Federal do Rio de Janeiro, Instituto de Puericultura e Pediatria Martagão Gesteira, Rio de Janeiro RJ, Brazil.</footnote>

<footnote>*Correspondence: mariamarianamuniz@hotmail.com.</footnote>
ID: 877

Area: Inborn errors of metabolism

Presentation method: Eletronic Poster

A case report of two novel mutations suggestive of
combined deficiency of oxidative phosphorylation-39
(COXPD-39) in a patient with global development delay

Bruna Eugênia Gomes Felipe<fnref n="1" />, Lethícia Nogueira Santos Barreto<fnref n="1" />, Lucas Barbosa Napolitano de Moraes<fnref n="1" />, Lara Cristina Antunes dos Santos<fnref n="1" />, Andrea Siqueira Campos Monti<fnref n="1" />, Mirelle Tristão de Souza<fnref n="1" />, Maria Beatriz Bravin<fnref n="1" />, Carolina Casarin Brosco<fnref n="1" />, Augusto Ventura Ceranto<fnref n="1" />

*Correspondence: brunaeugeniaf@gmail.com.

Abstract

Case Presentation: AJAS, 3 years old, referred to the neuro-pediatrics clinic due to global delay in neuropsychomotor development, uncoordinated movements and tremor. Investigated with imaging tests she presented with basal ganglia lesions in addition to a lactate peak in spectroscopy suggestive of Leigh Syndrome. Genetic panel for Leukodystrophies was performed with identification of two novel mutations of uncertain clinical significance interpreted as combined heterozygosity in the GFM2 gene on chromosome 5q13 (p. His539Asn and p.Thr84 Thr87del), related to Combined Deficiency in oxidative phosphorylation-39 (OMIM #618397). During the investigation, the family pointed to a 14-year-old sister with a history of similar delay, but of unknown etiology so far, revised tomography with similar alterations, now awaiting genetic investigation.

Discussion: Combined oxidative phosphorylation-39 defi-
ciency (COXPD-39) is an autosomal recessive multisystem
disorder resulting from a defect in mitochondrial energy
metabolism. According to three studies from the Online
Mendelian Inheritance in Man (OMIM), affected patients
have global developmental delay or regression, axial hypoto-
nia with limb spasticity or other movement disorders and
intellectual disability. In some cases, there are also seizures
and features of Leigh's syndrome on brain scans. Currently,
there are no standardized therapeutic protocols for the
treatment of patients with oxidative phosphorylation disor-
ders and treatment may vary between specialized centers.
Coenzyme Q10 is often a constituent of this treatment as it
serves as an antioxidant and restores electron flow in mito-
chondrial respiration.

Final Comments: There are variable deficiencies of the en-
zyme complexes of the mitochondrial respiratory chain in the
tissues of patients, with different degrees of impairment.
There are few reports and research to clarify not only the
mechanisms of mitochondrial disease at cellular and tissue
levels, but also to determine the phenotypes and acknowl-
edge every pathological mutations of this disorder and others
related to mitochondrial translation factor genes.

ID: 878

Area: Neuroimmunology, multiple
sclerosis and other demyelinating
diseases

Presentation method: Eletronic Poster

Diagnostic and therapeutic difficulty in demyelinating
disease in pediatrics: a case report

Kaline Luna Castor Camelo<sup>1,2</sup>, Gilvan Valdevino Costa Filho<sup>1,2</sup>, Yan Torres de Araújo<sup>1,2</sup>, Ana Clara Guilherme Rodrigues<sup>1,2</sup>, Bianca Etelvina Santos de Oliveira<sup>1,2</sup>, Ingrid Lacerda Pessoa<sup>1,2</sup>, João Bosco Araújo Diniz Segundo<sup>1,2</sup>, Ana Beatriz Teles de Almeida<sup>1,2</sup>, Yasmim Evelyn Lisboa Barbosa<sup>1,2</sup>

*Correspondence: kalinecamelo@gmail.com.

Abstract

Case Presentation: In 2019 a 9-year-old male had paresthesia in right lower limb (RLL) and optic neuritis on the right eye. After one year, the patient presented intense headache in occipital region and vomiting for 24 hours. One month later he had perceptive focal epileptic seizures associated with the occipital headache. After 2 weeks he started with paresis and paresthesia of the RLL, associated with urinary retention and urinary incontinence. On neurological exam he presented horizontal nystagmus, gait ataxia, Romberg with falling to the left and lower limb incoordination. Global hyperreflexia, grade 4+ strength in the RLL, Mingazzini positive at right and normoesthesis. He was advised to take azatriopine, but for more than 2 years he only took prednisone and valproic acid, becoming corticosteroid dependent. In 2023, after a period of stability and attempt to wean off the corticosteroid, he presented new relapse with ataxia and tetraparesis, taking IV methilprednisolone for 5 days. He remained with paresis in RLL, mild dysmetria bilaterally and urinary incontinence. It was requested to start rituxumab, but it has not been started due to local difficulties in acquiring the high-cost medication. The CSF showed absence of oligoclonal bands, negative anti-AQP-4 and is waiting for Anti-MOG dosage. The 2020 brain MRI showed thickening in the right optic nerve and nonspecific lesions in the white substance, mainly in the subcortical region and cingulum gyrus, besides a lesion in the left cerebellar peduncle. The spine MRI of 2020 showed a T2 hyperintensity on C7 level, with extension of 1 vertebral body and gadolinium enhance, suggesting an active lesion. The most recent MRI shows brain, cervical and thoracic spine lesions and no T1 hypointense lesions are described.

Discussion: Due to enhanced diagnostic criteria and reliable antibody detection methods, the diagnosis of pediatric acquired demyelinating syndromes such as multiple sclerosis, MOGAD and AQP4-NMOSD has become more accurate. Unfortunately, in some regions the access to diagnosis and treatment are still barriers that limit these patients to have a better disease control. In the reported case, it was evident that there was a barrier to accessing the recommended therapy for children due to the limited availability of the medication.

Final Comments: Apart from the challenges posed by diagno-
sis, it is evident that the impact of limited access to drug
therapy can significantly affect the prognosis of a child with
demyelinating disease.

ID: 880

Area: Neuromuscular diseases

Presentation method: Eletronic Poster

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

<footnote n="1">¹Centro de Referência de Esclerose Múltipla do Estado da Paraíba,
João Pessoa PB, Brazil.</footnote>

<footnote n="2">²Centro Universitário de João Pessoa, João Pessoa PB, Brazil.</footnote>
# Identifying a presymptomatic spinal muscular atrophy (SMA) patient in the absence of neonatal screening: a case report

Larisse Souza Morais Sommavilla<fnref n="1" />*, Ana Carolina Piauilino Santos Falcão<fnref n="1" />, Isabelle Salgado Castellano<fnref n="1" />, Cristina Iwabe<fnref n="1" />, Felipe Franco da Graça<fnref n="1" />, Marcondes Cavalcante França Jr<fnref n="1" />

## Abstract

**Case Presentation:** We present a 6 m.o. male patient, second child of non-consanguineous parents, born at term without perinatal complications and with age-appropriate neuropsychomotor development. His older brother was diagnosed with spinal muscular atrophy (SMA) at the age of 6 years. For this reason, he underwent genetic testing for SMA, even though no clinical signs were noticed. He was found to have biallelic SMN1 deletion and 3 copies of SMN2, confirming the diagnosis of presymptomatic SMA. Nusinersen infusions were immediately started. At 3 months of age, CHOP-INTEND score was 45/64. The scale was administered again at 6 months of age with a perfect score of 64/64. The patient remains asymptomatic and with normal physical examination, without tongue fasciculations and with preserved reflexes.

**Discussion:** The importance of early suspicion and diagnosis of SMA patients is paramount so that modifying therapies can be started before irreversible loss of motor neurons. In a national scenario in which neonatal screening for SMA is not yet a reality, early testing of individuals with known family history of SMA may be essential to identify presymptomatic patients who are known to have excellent evolution when treated.

**Final Comments:** SMA is the most common genetic cause of death in childhood and the second most prevalent autosomal recessive disease in this age group. Thus, greater accessibility to molecular genetic tests is a determining factor for early diagnosis and treatment, contributing to a reduction in morbidity and mortality and promoting a better quality of life for patients and their families

ID: 881

## Area: Neuromuscular diseases

### Presentation method: Presentation Poster

#### Clinical follow-up of a child with spinal muscular atrophy after treatment with Nusinersena

Angélica Maria Assunção da Ponte Lopes<fnref n="1" />, Lorena Patrícia Leal Mesquita Barreto<fnref n="1" />, Bruna Nayana Ribeiro Barbosa<fnref n="1" />, Danusa de Brito Alencar Veras<fnref n="1" />, Jade de Brito Freire Monteiro Alves<fnref n="1" />, Josué Assunção da Ponte Lopes<fnref n="2" />, Roberta Oriana Assunção Sousa da Ponte Lopes<fnref n="1" />, Luiz Fernando Pereira de Sá<fnref n="3" />

## Abstract

**Case Presentation:** Patient, female, 5 months old, born at term, of non-consanguineous parents, with a family history of a sibling with Spinal Muscular Atrophy (SMA) type 1. At birth, she realized a genetic test, with a positive result for SMA (homozygous deletion of the SMN1 gene). At 23 days old, she

received the first intrathecal application of Nusinersena, with three subsequent applications at intervals of 14, 28 and 58 days. Before starting treatment, she underwent a clinical evaluation, presenting with 34 points on the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) (0-64 points). After four applications of the drug, at approximately 5 months of age, the patient underwent a new evaluation, with 60 points on the CHOP INTEND, with all the expected developmental milestones for her age and, in relation to the symptoms of SMA, she presented only tongue fasciculations. At approximately 2 months of life, the patient developed bronchiolitis, which was managed on an outpatient basis, without the need for hospitalization.

**Discussion:** SMA is a rare autosomal recessive disease, caused by mutations or deletions in the SMN 1 gene, leading to degeneration of lower motor neurons and, consequently, atrophy and progressive muscle weakness. The disease is classified according to the age of onset of symptoms and the motor capacity shown, with type 1 the most common, in which symptoms begin before 6 months of life and there is usually a need for ventilatory support. Nusinersena is an antisense oligonucleotide recently approved for the treatment of SMA, which has been shown to provide increased survival without permanent ventilatory support in patients with type 1 SMA, and when treatment is established before the onset of symptoms, has provided near-normal motor development. The reported case presents a positive result in relation to the medication, since the patient obtained a high score on the CHOP INTEND after the applications, has been showing good motor neurodevelopment and, even with bronchiolitis, did not require ventilatory intervention.

**Final Comments:** Early initiation of treatment with Nusinersena has been shown to improve survival in patients with SMA, as well as preserving their motor skills. However, it is necessary to develop new studies to better understand these benefits, especially in the long term.

ID: 882

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

### Presentation method: Eletronic Poster

#### Inflammatory bowel disease and acute disseminated encephalomyelitis (ADEM): extraintestinal manifestation with typical changes in the central nervous system

Laura Defensor Ribeiro Melo<fnref n="1" />, Taynara Montes Araujo Cascão Figueiredo<fnref n="1" />, Roberta Fantauzzi Borges<fnref n="1" />, Matheus Souza Rosa<fnref n="1" />, Eduardo Vaz de Sousa Ferreira<fnref n="1" />, Amanda Povoa Paiva<fnref n="1" />, Maria Avanise Yumi Minami<fnref n="1" />, Ana Paula Andrade Hamad<fnref n="1" />

## Abstract

**Case Presentation:** Girl, 11 years old, previously healthy, observed abdominal pain, weight loss, nausea and vomit. During in-hospital investigation, she was diagnosed with inflammatory bowel disease, specifically Crohn's disease. In this same hospitalization, she experienced severe and progressive headache persistent for fifteen days, evolved with ataxia and dysarthria lasting forty-eight hours, with rapid improvement after use of corticosteroids to treat the gastrointestinal pathology. Cerebrospinal fluid puncture was

<footnote n="1">¹Universidade Estadual de Campinas, Faculdade de Medicina, Hospital de Clínicas, Campinas SP, Brazil.</footnote>

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

<footnote n="1">¹Hospital Infantil Lucídio Portella, Teresina PI, Brazil.</footnote>

<footnote n="2">²Centro Universitário UniFacid Wyden, Teresina PI, Brazil.</footnote>

<footnote n="3">³Centro Universitário Uninovafapi, Teresina PI, Brazil.</footnote>

<footnote>*Correspondence: angelica.mariaapl@gmail.com.</footnote>

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

<footnote>*Correspondence: lauradefensorribeiro@hotmail.com.</footnote>
performed without alterations, although magnetic resonance imaging of the brain evidenced areas of hypersignal alteration affecting white matter, with cerebellar and cerebral cortical involvement, justifying neurological findings.

**Discussion:** Inflammatory bowel diseases are chronic inflammatory condition that affects the digestive system and evolves in different ways through the gastrointestinal mucosa. Crohn's disease is characterized by ulcers that can involve transmurally any segment of the digestive tract, from mouth to anus. Besides gastrointestinal involvement, extraintestinal manifestations are common complaints of some patients, mouth, eyes, skin or the central and nervous system can be affected. Neurological involvement appears to occur rarely, however prevalence and incidence data are not available due to, because systematic studies are lacking. Demyelinating disorders are known to be related with inflammatory bowel diseases, as a disease association, similar behavior (disease like) or triggered by drug therapy. Manifestations as headache, paresthesia, dysarthria or aphasia, hyperreflexia are some of the referred complaints. In addition to symptomatology compatible with demyelination, the imaging findings corroborate the involvement of the central nervous system. In this case report, gastrointestinal and neurological manifestations were observed during diagnostic investigation, favoring clinical correlation. In addition, image particularities approximate the diagnosis for ADEM or ADEM like, after targeted therapy beginning, which seems to be more usual.

**Final Comments:** Considering the scarcity of specific data on neurological disorders associated with inflammatory bowel diseases, the reported case corroborates such evidence and reiterates the relevance of care shared between neurology and gastroenterology to establish the best therapeutic choice in these cases.

ID: 884

Area: Epilepsies

Presentation method: Eletronic Poster

Epidemiological profile of epilepsy hospitalizations in pediatric patients in Para state, Brazil: an analysis from 2012 to 2022

Miguel Luciano Rodrigues da Silva Junior<fnref n="1" />, Adria Santos Bastos Soares<fnref n="1" />*, Felipe Jesus Silva Saraiva Campos<fnref n="1" />, Gabriel Nunes da Silva<fnref n="1" />, Paulo Ricardo Sampaio de Oliveira<fnref n="1" />, Matheus Oliveira Assunção Lima<fnref n="1" />, Millenny Lohanne da Silva Lisboa<fnref n="1" />, Luanda Brasil Guimarães<fnref n="1" />, Maria Joana da Silva Pinto<fnref n="1" />

Abstract

**Background:** Epilepsy is a chronic neurological disease characterized by recurrent, unpredictable episodes of seizures. These seizures are caused by abnormal, excessive electrical activity in the brain. Epilepsy can affect people of all ages and can have different causes, such as brain damage, congenital abnormalities, infections, genetic or unknown diseases.

**Objective:** To present the epidemiological profile of epilepsy hospitalizations in the age group 0 to 14 years in the state of Pará, Brazil, between 2012 and 2022.

**Methods:** This is a retrospective epidemiological study, in which data were obtained from the Departamento de Informática do Sistema Único de Saúde (DATASUS). The analysis comprised the number of reported cases in the State of Pará from 2012 to 2022. The variables investigated were sex, race/ethnicity, height, area and age (0-14). Descriptive statistics

using absolute and relative frequencies were employed for data analysis.

**Results:** The data revealed a total of 10,773 hospitalizations due to epilepsy between 2012 and 2022, of which 5,067 corresponded to the age group of 0 to 14 years (47.03%), with an average of 460 per year. Within this age group, the Araguaia region had the highest incidence (16%). Males were the most affected gender, with 2,822 hospitalizations (55.69%). The age range of 1 to 4 years reported 2,066 cases (40.77%), being the most prevalent. Individuals of mixed race represented the majority of cases, with 3,182 hospitalizations (62.79%), followed by 1,713 cases where race/ethnicity was not identified.

**Conclusion:** This analysis presented an epidemiological profile of epilepsy hospitalizations in Pará between 2012 and 2022. The number of hospitalized patients in the age group 0 to 14 years reached a significant value, comprising approximately half of the total number of cases. Understanding the epidemiology and specificities of this pathology is essential for the implementation of effective strategies for prevention, diagnosis, and treatment of childhood epilepsy.

ID: 885

Area: Neurogenetics

Presentation method: Eletronic Poster

Moyamoya and homozygous mutation of CLN8 in a Brazilian boy: a previously unreported association

Ana Beatriz Arruda Carvalho de Oliveira<fnref n="1" />*, Joemir Jóbson da Conceição Brito<fnref n="1" />, Flora Cruz de Almeida Ximenes<fnref n="1" />, Renata Silva de Mendonça<fnref n="1" />, Andreia Braga Mota Azzoni<fnref n="1" />, Mariana Piva da Costa<fnref n="1" />, Daniel Shojay Hashi<fnref n="1" />, Pedro Carrijo Costa<fnref n="1" />, Clarissa Bueno<fnref n="1" />

Abstract

**Case Presentation:** A 6-year-old male patient presented with unaltered development until six years of age, when he displayed focal motor and myoclonic seizures, progressing to weekly episodes. Treatment with Valproic acid was introduced and posterior addition of Levetiracetam and Clobazam to control seizures. Concomitantly, neuropsychomotor regression of development, progressive visual impairment and global cerebellar ataxia were also observed. Brain MRI image showed brain and profound cerebellar atrophy, also vascular analysis pointed to a Moyamoya pattern. Electroencephalography showed epileptiform activity in posterior areas, with photoparoxysmal response absent. Bilateral optic atrophy was confirmed by a neuro-ophthalmologist. Based on the clinical evaluation, a gene epilepsy panel revealed the presence of c.792C>G (p.Asn264Lys), a previously described CLN8-pathogenic variant in homozygous fashion.

**Discussion:** Neuronal ceroid lipofuscinoses (NCL) are a rare and heterogeneous group of neurodegenerative disorders characterized by intracellular accumulation of autofluorescent storage in multiple tissues, especially neurons. At present, thirteen different neuronal ceroid lipofuscinosis (NCL) genes are known. Pathogenic variants in the CLN8 gene cause two distinct allelic diseases, a progressive epilepsy with mental retardation (EPMR) and a more severe variant late infantile with onset around 3-7 years of age and motor decline, severe epilepsy and progressive vision loss, besides ataxia and dystonia. To our knowledge, this is the first

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

<footnote>*Correspondence: soaresadria16@gmail.com.</footnote>

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

<footnote>*Correspondence: anabeatrizaco@gmail.com.</footnote>
reported case of CLN8-related disease in association with Moyamoya, a condition marked by stenosis of distal internal carotid arteries and proximal cerebral arteries causing cerebral ischemia. Moyamoya has been reported in conjunction with a number of diseases (e.g. neurofibromatosis type 1), as well as a handful of lysosomal storage diseases and with CLN6 bi-allelic mutations.

**Final Comments:** We described a case of Moyamoya in conjunction with homozygous mutations in CLN8. If the association of these two rare conditions reflects a causal relationship, this case raises some important questions about the role and function of CLN8. Additional genetic testing was not done to find any further mutation that could explain the development of Moyamoya.

ID: 889

Area: Neuromuscular diseases

Presentation method: Eletronic Poster

**Atypical case of Duchenne dystrophy with negative DNA tests case report**

José Yagoh Saraiva Rolim¹*, Daniel Robson Marinho de Araújo¹, Bianca Alvares Almeida¹

¹Hospital Universitário Materno Infantil, São Luís MA, Brazil.

*Correspondence: joseyagoh@hotmail.com.

**Abstract**

**Case Presentation:** Male, 11 years old, born by vaginal delivery, uneventful pregnancy, cried at birth with good sucking on the mother's breast. Parents without neurological diseases, consanguineous 3rd cousins. Falls and fatigue since the beginning of walking, in the 1st year of life. Evolved with difficulty in climbing stairs, running and jumping, pain in lower limbs with exercises. Appropriate weight and heig ht. Head support, speech onset, crawling and walking at 6, 7, 8 and 16 months, respectively. Delay in learning. Follow up began in 2019 with a medullary biopsy that confirmed dystrophinopathy. Needed a wheelchair 2 years later. At the moment: not walking, does not maintain an upright posture even with support, normal head, neck, thorax, abdomen, spine, skin and genitalia, symmetrical lower and upper limbs with knee contractures and grade 4 strength in the proximal region (Medical Research Council of The Uni ted Kingdom. Echocardiograms (2017, 2020 and 2021): no changes, EF 72%, 70% and 60%, respectively, exams Laboratory tests (2017): blood count, urea, creatinine, 25OHVitamin D, TSH and free T4, within normal ranges, DHL 1,440 / CPK 8470 / CK MB 95 / AST 462 / ALT 640, Laboratory tests (2018) blood count, urea, creatinine, 25OHVitamin D, TSH, free T4, sodium, potassium, magnesium, calcium and phosphorus within normal ranges, DHL 724 / CPK 4528 / CK MB 72, Molecular DNA analysis (2019) for DMD gene -- MLPA, NG S, ANO5, DYSF, GAA, SGCA, SGCB, SGCD, SGCG, APN3, FKRP, TCAP: absence of pathogenic variants, Exome Sequencing NGS (2019): no variants justifying the clinical picture, Immunohistochemical molecular biopsy (2019): significant reduction of DYS2 and DYS3 expression with diffuse sarcolemmal and utrophin expression (autosomal dystrophin analogue, focal reduction of gamma Western Blot (2019): Cterminal and Nsarcoglycan that may be secondary, terminal dystrophin absent bands compatible with dystrophinopathy.

**Discussion:** The report exposes an atypical case of Duchenne Muscular Dystrophy (DMD) with expected clinical findings, but with DNA analyzes that did not confirm the diagnosis, being necessary to correlate molecular biopsy and Western Blot.

**Final Comments:** There are few cases in the literature of false negative DNA analyzes for DMD. The case is part of the context of valuing clinical findings and anamnesis in addition to specialized and robust tests for the diagnosis of rare diseases, among them: dystrophinopathies.

ID: 891

Area: Neuroinfections

Presentation method: Presentation Poster

**Epidemiological profile of pediatric patients hospitalized with meningitis in Para state, Brazil: an analysis from 2012 to 2022**

Adria Santos Bastos Soares¹*, Felipe Jesus Silva Saraiva Campos¹, Miguel Luciano Rodrigues da Silva Junior¹, Millenny Lohanne da Silva Lisboa¹, Emanuella Machado Teixeira¹, Pâmela Daiana Cancian¹, Keurry Lourhane da Costa Silva¹, Ana Karoline Brito de Oliveira¹, Maria Joana da Silva Pinto¹

¹Universidade do Estado do Pará, Marabá PA, Brazil.

*Correspondence: soaresadria16@gmail.com.

**Abstract**

**Background:** Meningitis is a disease that can cause neural involvement due to inflammation of the meninges and infection of the central nervous system. The infection can affect the nerves, nerve cells, and brain structures, leading to a range of neurological symptoms. The age group in which meningitis is most common in children is in the early years of life, especially in infants under 1 year of age.

**Objective:** To analyze the epidemiological profile of pediatric patients hospitalized with meningitis between the years 2012 to 2022.

**Methods:** This is an epidemiological, retrospective, quantitative study, in which data were obtained from the Department of Informatics of the Unified Health System (DATASUS). The analysis comprised the number of cases reported in Pará from 2012 to 2022. The main variables analyzed were sex, skin color, age (0-19), health region, hospitalization regimen, and type of clinical outcome. For data analysis, descriptive statistics were used through absolute and relative frequencies.

**Results:** In the time cut from 2012 to 2022, in the state of Pará, there were 1174 hospitalizations for meningitis in pediatric patients, with an increase from 49 in 2012 to 224 in 2022. The health region (CIR) with the highest density of occurrences was Metropolitan I (56.9%). The patients were mostly male (57%), mixed race (67.5%), under 1 year old (22.2%) and admitted to the public hospital network (19.3%, however, 79.5% were considered "unaware"). Regarding the type of outcome, 17.2% evolved to death.

**Conclusion:** This analysis allowed the identification of the epidemiological profile of pediatric patients hospitalized with meningitis in the period from 2012 to 2022 in Pará. We observed a significant increase in the number of hospitalizations in the analyzed period. In addition, the percentage of deaths is significant, requiring more public policies aimed at prevention, such as immunization.
ID: 892

# Area: Neuroimmunology, multiple sclerosis and other demyelinating diseases

## Presentation method: Eletronic Poster

### Case report of progressive chorea and dystonia secondary to IGM hypergammaglobulinemia

Andresa Rêgo Barros Vieira Santos<fnref n="1" />,<fnref n="2" />*, Glidiane Silva

Nascimento<fnref n="1" />,<fnref n="2" />, Lucas Victor Alves<fnref n="1" />,<fnref n="2" />, Paula Teixeira Lyra<fnref n="1" />,<fnref n="2" />

### Abstract

**Case Presentation:** ERCT, male, 3 years old, initially followed up by immunology due to recurrent sinopulmonary infections in addition to evidence of hypogammaglobulinemia. Associated with the condition, he started progressive choreo-dystonic movements that proved to be resistant to a drug therapeutic test with levodopa. In a propaedeutic evaluation, analysis of cerebrospinal fluid, electroencephalogram and magnetic resonance imaging of the skull were performed, with results within normal limits. It was decided, then, to carry out a genetic analysis through a panel for movement disorders, which did not show pathogenic genes that would justify the clinical manifestation. In a parallel investigation of immunology, and with the suspicion of combined immunodeficiency, a molecular exome test for immunodeficiencies was performed, which showed a pathogenic variant in hemizygosity of the nonsense type in the CD40LG gene, characterizing the Hyper-IgM Syndrome.

**Discussion:** The CD40LG gene, located on chromosome Xq26.3, encodes the ligand for the immune-related molecule CD40. Deficiency of the CD40 ligand has been shown to result in reduced immunoglobulin classes G, A, and E, while IgM levels are normal or elevated. Deficiency of the CD40/CD40L axis deleteriously affects the biological pathways of different cell lineages, manifesting itself as changes in cellular and humoral immunity. It is a pathology transmitted as an X-linked trait and characterized by manifestations in the first years of life through recurrent opportunistic infections involving the respiratory system, gastrointestinal tract, septicemia and autoimmune manifestations. Neurological symptoms are seen in less than 15% of affected patients. Although central nervous system infections are known to occur in cases of CD40L deficiency, with an incidence of around 10% of patients, neurodegeneration is a rare but recognized phenomenon. In the context of CD40L deficiency it is an uncommon association, however described in the literature. All reported cases presented movement disorders with prominent choreic and dystonic elements refractory to drug treatments, as in the case presented here.

**Final Comments:** The Hyper IgM Syndrome must be included in the differential diagnosis of choreo-dystonic and dyskinetic presentations that occur associated with immunodeficiencies, as they can evolve with potentially fatal complications and with a significant loss of quality of life with the evolution of neurodegenerative symptoms.

ID: 894

# Area: Inborn errors of metabolism

## Presentation method: Eletronic Poster

### Homocystinuria-megaloblastic anemia CBLE complementation type in infante: a case report

Lethícia Nogueira Santos Barreto<fnref n="1" />*, Bruna Eugenia Gomes Felipe<fnref n="1" />, Lucas Barbosa Napolitano de Moraes<fnref n="1" />, Lara Cristina Antunes dos Santos<fnref n="1" />, Maria Beatriz Bravin<fnref n="1" />, Andrea Siqueira Campos Monti<fnref n="1" />, Mirelle Tristão de Souza<fnref n="1" />, Carolina Casarin Brosco<fnref n="1" />, Gabriela de Castro Fim<fnref n="1" />

### Abstract

**Case Presentation:** Patient, 1-month-old ALFP, born at term without intercurrences. In the first week of life, she sought medical care with maternal complaints of pallor, persistent crying and refusal to breastfeed, verified in a hemoglobin test of 4.5 g/dl, in addition to severe dysphagia in a contrast-enhanced test. In myelogram, the presence of partial true megaloblastic transformation and expressive magaloblastic disposition was observed. Evidenced in image exam global atrophy, both infra and supra tentorial, with signs of periventricular parenchymal hypodensity to the lateral ventricles. The diagnosis of Homocystinuria – Megaloblastic Anemia cbLE came after a genetic panel with 2 verified in the MTRR gene (p.Gly548Alafs*2 and p.Lys382-Glu), one known to be pathogenic and the other, until then, of uncertain clinical significance, interpreted as compound heterozygosity. The patient evolved with global delay in neuropsychomotor development. Initiate gained with vitamin B12, with hematimetric normalization, in addition to gains in cognitive and motor development.

**Discussion:** Megaloblastic anemia-homocystinuria (cbLE type) is an autosomal recessive inborn error of metabolism resulting from defects in the cobalamin (vitamin B12) dependent pathway that converts homocysteine to methionine - catalyzed by methionine synthase (MTR). The clinic is heterogeneous and depends on the age of onset of symptoms, but neurological and hematological manifestations predominate. The confirmation of the diagnosis is through studies of the enzymatic activity and the complementary genetic analysis allows to distinguish the 3 CbIC groups. CbID and CbF. The treatment is based on the intramuscular administration of hydroxycobalamin. Other therapeutic adjuvants can be used, such as betaine, folic acid, carnitine and moderate protein restriction, with different results.

**Final Comments:** The presentation of this report intends to address a rare inborn error of metabolism, but there is a simple treatment that installs early and later complications and major clinical ones. In addition, we present the description of a new mutation of unknown significance.

<footnote n="1">¹Universidade Federal de Pernambuco, Hospital das Clínicas, Recife PE, Brazil.</footnote>

<footnote n="2">²Instituto de Medicina Integral Professor Fernando Figueira, Recife PE, Brazil.</footnote>

<footnote>*Correspondence: andresabarros.arb@gmail.com.</footnote>

<footnote n="1">¹Universidade Estadual Paulista, Botucatu SP, Brazil.</footnote>

<footnote>*Correspondence: lethicianogueira@hotmail.com.</footnote>
ID: 895

Area: Neuroinfections

Presentation method: Eletronic Poster

Epidemiological profile of congenital syphilis cases in Pará state, Brazil: an analysis from 2011 to 2021

Pâmela Daiana Cancian<fnref n="1" />,²*, Keurry Lourhane Costa Silva<fnref n="1" />,²,
Felipe Jesus Silva Saraiva Campos<fnref n="1" />,², Millenny Lohanne Silva
Lisboa<fnref n="1" />,², Luanda Brasil Guimarães<fnref n="1" />,², Matheus Oliveira
Assunção Lima Oliveira Assunção Lima<fnref n="1" />,², Miguel Luciano
Rodrigues da Silva Junior<fnref n="1" />,², Adria Santos Bastos Soares<fnref n="1" />,²,
Maria Joana da Silva Pinto<fnref n="1" />,²

Abstract

**Background:** The spirochete Treponema Pallidum is the etiological agent of Syphilis, a venereal treponematosis that is one of the main Sexually Transmitted Infections (STI). Congenital syphilis (CS), in turn, occurs when there is vertical transmission of T. pallidum from a previously infected pregnant woman to her offspring, either intrauterine or during the peripartum. Thus, congenital syphilis is associated with negative outcomes in the peripartum, such as perinatal death and neurological involvement, such as meningitis, hydrocephalus, and delays in neuropsychomotor development.

**Objective:** To analyze the epidemiological profile of congenital syphilis cases in the state of Pará.

**Methods:** This is an analytical, retrospective, quantitative study, based on secondary data obtained from the Brazilian Unified Health System databases. Data were collected regarding the characteristics of patients with congenital syphilis in the State of Pará in the period between 2011 and 2021. For data analysis, descriptive statistics were used by means of absolute and relative frequencies.

**Results:** The data showed a total of 7162 cases of congenital syphilis in the state of Pará in the period between 2011 and 2021. The patients were mostly male (49.3%, since 3.53% of the total data were ignored), brown (83%), diagnosed within 6 days of life (95.8%). As for the maternal data, they were between 20 and 24 years old (34.2%), had incomplete elementary school education (36.2%), were diagnosed with syphilis during prenatal care, underwent treatment (61.6%), and had untreated sexual partners (61.36%).

**Conclusion:** It is notorious that there is a large number of cases of congenital syphilis in Pará and several factors contribute to the perpetuation of the disease. Thus, early detection is of utmost importance for a good prognosis and for the prevention of complications, especially neurological ones.

ID: 896

Area: Inborn errors of metabolism

Presentation method: Presentation Poster

BH4 deficiency identified in 2 patients with severe neurological phenotype followed at the phenylketonuria clinic in Pernambuco

Maria Paula Mariz da Silveira Barros<fnref n="1" />, Paloma Velez de Andrade Lima Simões Ferreira<fnref n="1" />, Daniela Souza Soares<fnref n="1" />, Keith Lynch de Mello Mendes Bezerra<fnref n="1" />

Abstract

**Case Presentation:** Case 1: MHAS, 2 years old, daughter of consanguineous parents, followed at the phenylketonuria (PKU) outpatient clinic since the first trimester of life, after the heel prick test demonstrated phenylalanine (FAL=16.9 mg/dL) and confirmatory test (FAL= 13.4 mg/dL). She showed signs of global developmental delay and hypotonia, even on adequate dietary treatment. During hospitalization, for 1 year and 8 months, due to the severe neurological condition, a genetic panel was collected to investigate tetrahydrobiopterin (BH4) deficiency, which showed the presence of a homozygous pathogenic variant in the PTS gene. Treatment with Sapropterin dihydrochloride and neurotransmitter replacement was initiated, with significant improvement in hypotonia, movement disorder, hypersalivation and nutritional status. Case 2: KWPS, 1 year old, daughter of consanguineous parents, initiated follow-up at the PKU clinic at 9 months old, as the result of the heel prick test, with FAL 18.4mg/dl, was retrieved only at 8 months. A confirmatory test was performed (FAL 7.8mg/dL) and treatment with a restrictive diet was started. The patient had severe hypotonia, dysphagia and developmental delay, without significant improvement. A genetic test for BH4 mutation was performed at 11 months of age, which showed a homozygous pathogenic variant in the PTS gene, and treatment with Sapropterin dihydrochloride and neurotransmitter replacement was instituted. Despite the irregular use of medications, a partial improvement in the condition was noted.

**Discussion:** Hyperphenylalaninemia is mostly caused by phenylketonuria. Only 2% have a cause associated with a mutation in the genes for tetrahydrobiopterin (BH4), which is a fundamental cofactor for the metabolism of phenylalanine hydroxylase. BH4 is involved in the synthesis of neurotransmitters such as dopamine, serotonin, noradrenaline and adrenaline. Although rare, BH4 deficiencies have disease-modifying treatment (especially if instituted early), which can significantly alter patient's quality of life, since if left untreated it can lead to developmental delay, severe hypotonia, movement disorder, dysphagia and epilepsy.

**Final Comments:** Although started late, as reported in both cases, treatment with Sapropterin Dihydrochloride and neurotransmitter replacement showed benefit in these patients, especially in case 1 and demonstrates the importance of screening BH4 deficiency in patients screened positively for Phenylketonuria with severe neurological condition.

ID: 898

Area: Neurological manifestations of systemic diseases

Presentation method: Presentation Poster

Epidemiological analysis of congenital syphilis in the Northern region from 2017 to 2021

Julyana Felipe Mendes, Sabrina Costa Coelho, Ana Gabriela Pinheiro Monteiro, Luiz Felipe Coutinho Dias

Abstract

<footnote n="1">¹Faculdade de Ciências Médicas do Pará, Marabá PA, Brazil.</footnote>

<footnote>Universidade do Estado do Pará, Marabá PA, Brazil.</footnote>

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

<footnote n="1">¹Hospital Barão de Lucena, Recife PE, Brazil.</footnote>

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

<footnote>*Correspondence: Julynanamendes1@gmail.com.</footnote>