ID: 635

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

**Presentation method: Eletronic Poster**

**Acute disseminated encephalomyelitis in a pediatric patient: case report**

Juliana Coelho Xavier¹, Carla Jéssica da Silva Fernandes¹*, Ezio Junio Gonçalves Nunes¹, Renata Andrade Oliveira¹, Madson do Nascimento Lopes¹, Lázaro Inácio Araújo Rodrigues¹, Francisco Monteiro Meneses¹, Cinthya Maria Neves Varandas¹, Janeusa Rita Leite Primo Chagas¹

¹Obras Sociais Irmã Dulce, Salvador BA, Brazil.

*Correspondence: carlajessicasf@gmail.com.

**Abstract**

**Case Presentation:** This is an 8-year-old female child from Catu (BA). She presented symptoms that started in January/2023 of vomiting, myalgia and vertigo, evolving a few days later with fever, drowsiness and nystagmus. She presented with pharyngotonsillitis prior to the beginning of the reported symptoms. Due to suspicion of meningoencephalitis, antibiotic therapy (ceftriaxone) and antiviral therapy (acyclovir) was started and cerebrospinal fluid collection was performed, which was normal. Among the serologies collected, serology for cytomegalovirus (CMV) IgG reagent was evidenced. Magnetic resonance imaging (MRI) of the skull with alterations suggestive of acute disseminated encephalomyelitis (ADEM). Pulse therapy with methylprednisolone was performed for 3 days, with significant improvement of the condition and oral corticosteroids were maintained for 6 weeks, with good response. Currently, the patient has no complaints and a normal neurological examination.

**Discussion:** ADEM is an acute, inflammatory and demyelinating disease of the central nervous system (CNS) with multifocal involvement, affecting the cerebral white matter and spinal cord. It has a rare incidence, with an expected rate for the pediatric age group. It is an autoimmune disease whose pathogenesis is still not fully understood. Clinical manifestations may arise after infections, either by viral agents, by bacteria, after vaccination or after the use of medications.

**Final Comments:** Thus, the importance of ADEM as a differential diagnosis in pediatric neurology in patients with acute, progressive and severe symptoms is verified. This condition, when diagnosed early, has a better response to treatment and a better prognosis.

ID: 636

**Area: Neuroinfections**

**Presentation method: Presentation Poster**

**Central nervous system manifestations on the chikungunya disease: series of cases**

Larissa de Carvalho Oliveira¹*, Juliana Gurgel Giannetti¹, Lívia Uliana Jácome¹, Camila Cristiane Silva Camelo¹, Fernanda Luz Teixeira¹, Letícia Sauma Ferreira¹, Mariana Braga Valadão¹, Yuri Barcelos¹

¹Universidade Federal de Minas Gerais, Hospital das Clínicas, Belo Horizonte MG, Brazil.

*Correspondence: lahdecarvalho@gmail.com.

**Abstract**

**Background:** The Chikungunya disease is an arboviral infection caused by an alphavirus. The disease was first reported in the 1960's, but major outbreaks became more evident on the tropics in early 2000's. Systemic and neurological complications are being increasingly recognized since then.

**Objective:** To report two different Central Nervous System (CNS) manifestations of the chikungunya virus (CHIKV) in the early infancy and neonatal period.

**Methods:** The patients were clinically evaluated and had imaging, laboratorial and serology studies performed.

**Results:** Case 1 – Five-month-old female patient, living on the rural district of a northern Minas Gerais city, first presented with high fever and inconsolable crying. She developed bullous and erythematous skin lesions on the third day. As the disease progressed, pancytopenia, hepatic and renal disfunction became more evident. At this point, dialyses was prescribed. Alongside with ionic instability and systemic disfunctions, the patient presented with Status epilepticus, resolved after a 10mg/kg phenobarbital attack. Head computed tomography presented with cortical atrophy. Cerebrospinal fluid (CSF) analyzes showed no signs of inflammation and was negative for CHIKV. CHIKV disease was confirmed through serology exams which demonstrated high IgM serum levels. Case 2 – Female term newborn, born in Belo Horizonte, presenting with sepsis-like symptoms (respiratory distress) on the first day of life. The mom had a history of fever and erythematous lesions during childbirth. The patient evolved with cardiac arrhythmia, feeding intolerance, glycemic instability and bullous skin lesions. Neonatal seizures controlled with 20mg/kg phenobarbital attack. Transfontanelle ultrasound revealed subependymal hemorrhage on the left side and CSF studies had an inflammation pattern with elevated protein (847mg/dL). CHIKV vertical infection was confirmed through newborn and mother positive serum RT-PCR studies.

**Conclusion:** CHIKV infection became a common viral disease in South America on the last few years. Hence, knowledge of the various systemic and neurological symptoms is essential for optimal recognition and for guiding the treatment plan. This series of cases shows two pediatric patients, from different age groups. The former fulfilling criteria for CHIKV encephalopathy (Case 1) and the latter (Case 2) the CHIKV encephalitis.

ID: 637

**Area: Neuromuscular diseases**

**Presentation method: Eletronic Poster**

**Autosomal dominant Emery-Dreifuss muscular dystrophy: a case report**

Ana Elisa Ribeiro Faria¹, Manoel Jacinto Abreu Neto¹*, Hugo José Carvalho Garcia Santos¹, Laura Maria Viscardi Brighenti¹, Natália Josiele Cerqueira Checon¹, Fernanda Sá Bohn Assis¹, Lais Russo Carneiro Peruzzi¹, Roberta Caramico Pinto¹, Paulo Breinis¹

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

*Correspondence: manoelneto.abreu@gmail.com.

**Abstract**

**Case Presentation:** Female patient, 6 years old, previously healthy, without relevant perinatal history and with adequate neuropsychomotor development, started weakness in the
lower limbs at around 3 years of age, with difficulty in prolonged physical exercises and with frequent falls. Patient hospitalized for investigation of lower limb weakness and malnutrition, given current weight of 14kg (<p 0.4). She has a family history of a father with global hypotrophy and congestive heart failure, predominantly proximal weakness, difficulty in prolonged physical exercises and present Gowers sign, and a paternal grandmother who died at the age of 33 due to a heart disease. On neurological examination, patient with peripheral motor syndrome characterized by reduced strength in lower limbs (grade IV) with proximal predominance (also questioned distal component), osteotendinous reflexes abolished in lower limbs, present Gowers sign, gait with slightly widened base, tilt of the hip and with discreet raising of the feet. Collected laboratory tests that showed elevated levels of creatine phosphokinase (1257 U/L and 1074 U/L in different samples). Molecular test was collected from the patient and her father, and both showed mutation in the LMNA gene, position chr1: 156,114,995, variation T > A in heterozygosis (1 copy). Despite the classification as a variant of uncertain significance, the result is compatible with the clinical condition of the patient and her father.

**Discussion:** Emery-Dreifuss muscular dystrophy (EDMD) common phenotype is characterized by slowly progressive and low proeminent muscle weakness, accompanied by contractures of the cervical and paravertebral musculature, elbows and Achilles tendons and cardiac arrhythmia in varied proportion. Serum levels of creatinophosphokinase can be normal or slightly increased. This condition presents a large genetic heterogeneity and can manifest X-linked, autosomal dominant and autosomal recessive inheritance. Given this large genetic heterogeneity, there is a wide variation in age of onset, severity and speed of progression of symptoms, both intra and inter-family. Autosomal Dominant Emery-Dreifuss muscular dystrophy is associated with lamin A and C gene mutations, which supports the present case report diagnosis, correlating the patient's clinical, the family history and the variant of uncertain significance identified in the molecular test performed.

**Final Comments:** EDMD presents a large genetic heterogeneity and therefore wide phenotypic variation. Molecular testing and parental genotyping are important for proper diagnosis and identification of new pathogenic variants.

ID: 638

Area: Neurogenetics

Presentation method: Presentation
Poster

Focal motor epilepsy and segmental dystonia associated to mutation in the KCTN1 gene: case report

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

Abstract

**Case Presentation:** 11-year-old female patient, single child of non-consanguineous healthy parents. She had normal psychomotor development until 5 years old, when she started epileptic seizures during sleep, characterized as focal motor with good response to oxcarbazepine. At the age of 7, she

manifested with dystonia in the upper limbs, worse on the left side and cervical region, controlled with the use of trihexyphenidyl combined with baclofen and diazepam. She also evolved with a learning disorder and attention deficit with low school performance. During the investigation, she performed an EEG which revealed signs of immaturity and video-EEG showing paroxysmal events without electrographic correspondence, with nonspecific findings. MRI of the brain was normal. A New Generation Sequencing genetic study using a multigene panel revealed a heterozygous mutation in the KCTN1 gene; which promotes the substitution of the amino acid glycine for serine at codon 288 (p.Gly288Ser), classified as pathogenic.

**Discussion:** KCNT1-related epilepsy is associated with two phenotypes - epilepsy of infancy with migrating focal seizures (EIMFS) with onset at 6 months of age associated with developmental regression and autonomic manifestations and autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) with childhood-onset epileptic seizures with normal EEG or low-incidence paroxysms, movement disorder with tonic phenomena and dystonia, in addition to psychiatric and learning disorders, similar to that presented by the patient. KCNT1 mutations were described in the literature associated with the ADNFLE phenotype with penetrance close to 80%, refractory epilepsy, severe intellectual deficit and higher frequency of psychiatric disorders compared to other genes correlated with the same phenotype.

**Final Comments:** The KCNT1 gene presents with atypical epileptic seizures with usually normal EEG and early dystonia. Identifying the mutation allows the conduction of the appropriate treatment in order to avoid the motor sequelae of dystonia and a worse cognitive decline without proper management. In addition, through diagnosis, the family can be informed about the disease and undergo genetic counseling.

ID: 639

Area: Neuroimmunology, multiple sclerosis and other demyelinating diseases

Presentation method: Presentation
Poster

Anti-NMDAR encephalitis in a pediatric hospital from 2010 to 2022

Rui Carlos Silva Junior<fnref n="1" />*, Ana Paula Resende Silva<fnref n="1" />, Mariah Pereira de Andrade Vallim<fnref n="1" />, Lorena Vilela Rezende<fnref n="1" />, Giulia Vilela Silva<fnref n="1" />, Elisabete Coelho Auersvald<fnref n="1" />, Michelle Silva Zeny<fnref n="1" />, Daniel Almeida do Valle<fnref n="1" />, Mara Lucia Schmitz Ferreira Santos<fnref n="1" />

*¹Hospital Pequeno Príncipe, Curitiba PR, Brazil.

Abstract

**Background:** Autoimmune encephalitis is the leading cause of non-infectious etiology encephalitis in the world. In 2005, the main antibody against the surface of neurons receptor anti N-Methyl-D-Aspartate (anti-NMDAr) was described, triggered by viral infections or tumors. The clinical presentation has an acute or subacute onset with symptoms such as language and/or behavioral changes, psychiatric disturbances, movement disorders, epileptic seizures, dysautonomia, and decreased level of consciousness. There are few Brazilian studies on autoimmune encephalitis in the pediatric population in Brazil.

**Objective:** To obtain epidemiological and clinical information on anti-NMDAr encephalitis in childhood, filling a gap in knowledge about the subject. To identify the frequency of

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

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

<footnote>*Correspondence: ruicarlossilvajunior@gmail.com.</footnote>
autoimmune encephalitis from January 2010 to November 2022, according to age and gender, as well as the clinical presentation and outcome of patients with positive autoantibodies.

**Methods:** This is a retrospective, observational, and descriptive study carried out through medical records of pediatric patients hospitalized between 2010 and 2022 in a tertiary children's hospital in Curitiba, Paraná, Brazil, diagnosed with autoimmune encephalitis with positive autoantibodies.

**Results:** Thirteen patients between 8 months and 17 years of age were identified, with a predominance of females. Most patients required hospitalization in a pediatric ICU at some point. At least two of the classic triad symptoms, alteration of the level of consciousness, seizures, and movement disorders, were present in all patients. There was a correlation with viral infection, and no cases associated with germ cell tumors were registered in the analyzed sample. Treatment was initiated late. There were no deaths among the patients in the sample.

**Conclusion:** The incidence is likely underestimated, as confirmed by data from the literature, due to difficulties in accessing diagnostic tests. Cardinal symptoms such as alteration of the level of consciousness, movement disorders, and seizures were present in most patients. Regarding treatment, all patients required more than one option among first-line therapies, and 76% required second-line therapies due to failure to remit symptoms.

ID: 640

Area: Neurogenetics

Presentation method: Eletronic Poster

**Case report on the neurological complications associated with Noonan syndrome**

Gabrielle Miranda Magalhães Pinto<fnref n="1" />,<fnref n="2" />*, Déborah Araújo Leitão<fnref n="1" />,<fnref n="2" />, Isabelle Diniz Melo<fnref n="1" />,<fnref n="2" />, Isabel Bessa Leite<fnref n="1" />,<fnref n="2" />, Samuel Lucas Almeida da Silva<fnref n="1" />,<fnref n="2" />, Maria Clara Feitosa de Melo<fnref n="1" />,<fnref n="2" />, João Marcelo Miranda Silveira dos Santos<fnref n="1" />,<fnref n="2" />, Fabiane Elpídio de Sá Pinheiro<fnref n="1" />,<fnref n="2" />, José Lucivan Miranda<fnref n="1" />,<fnref n="2" />

*Correspondence: gabriellemmp1@hotmail.com.

**Abstract**

**Case Presentation:** We report the case of a 5-year-old boy, born prematurely by cesarean section at 34 weeks due to gestational complications. During pregnancy, his mother developed preeclampsia and was hospitalized. In the second gestational trimester, his ultrasound displayed polyhydramnios, mild bilateral cerebral ventriculomegaly and renal pyelectasis. When he was born (APGAR 5/8), he demanded resuscitation, underwent endoscopic gastrostomy and had multiple deformities, polycystic kidney disease and bilateral cryptorchidism. A transfontanellar ultrasound revealed mild ectasia of the supratentorial ventricular system (SVS) and the fourth ventricle. At 5 months, he was diagnosed with neuropsychomotor developmental delay (NPMD), laryngomalacia and global tactile sensory dysfunction. At 12 months, an MRI revealed global dilation of the SVS and a diffusely tapered corpus callosum. When he was 20 months old, macrocrania, malnutrition, poor eye contact and global hypotonia were reported and, 2 months later, he was diagnosed with Noonan Syndrome (NS), with a BRAF gene variant of zero frequency. At 2 years old, he began to have seizures and to display hearing hypersensitivity, stereotypies, irregular sleep, myoclonus, inability to sit or speak and unresponsiveness to calls.

At age 4, he presented with spastic tretraparesis-axial hypotonia, persisting with seizures, dysphagia and sensory dysfunction.

**Discussion:** The case describes complications of NS, a genetic disease that causes multiple malformations, short stature and heart disease, with less frequent digestive disorders, PMDN and cryptorchidism, except when the BRAF gene is altered. Furthermore, radiation, polyhydramnios and preeclampsia in the last trimester of pregnancy are major causes of premature birth, the latter being able to develop renal, cardiopulmonary and cerebral alterations in the fetus due to fetal growth restriction. This brain malformation can cause seizures, hydrocephalus, cerebral palsy and even autistic traits, conditions that are still corroborated by genetic factors.

**Final Comments:** Given the variety of complications that NS causes to patients, this syndrome should undergo further analysis by the scientific community, since there are few studies about it. Furthermore, early diagnosis is still complicated, making it difficult to offer personalized treatment for their needs.

ID: 641

Area: Neuromuscular diseases

Presentation method: Presentation Poster

**Nemaline myophaty: description of respiratory and motor function and the quality of life of patients with different clinical forms of NM**

Marina Belisario Carvalhais<fnref n="1" />, Ana Carolina Monteiro Lessa de Moura<fnref n="1" />, Clara Catharino Pinhati<fnref n="1" />*, Gabriela Palhares Campolina Sampaio<fnref n="1" />, Laura Maria de Lima Belizário Facury Lasmar<fnref n="1" />, Juliana Gurgel-Giannetti<fnref n="1" />

¹Universidade Federal de Minas Gerais, Departamento de Neuropediatria, Belo Horizonte MG, Brazil.

*Correspondence: claracpinhati@hotmail.com.

**Abstract**

**Background:** Nemaline myopathy (NM) is a common structural congenital myopathy, with significant clinical and genetic heterogeneity.

**Objective:** Perform the assessment of respiratory, motor function and the quality of life of patients with different clinical forms of NM.

**Methods:** A cross-sectional study in line with a prospective cohort was carried out in neuromuscular disease reference ambulatory of Hospital das Clínicas in Universidade Federal de Minas Gerais including patients with nemaline myopathy whose diagnosis was made by muscle biopsy and / or histochemical study or genetic study. The sample underwent clinical evaluation, tests to assess respiratory, motor function and QQV.

**Results:** 11 patients with NM were included, divided into 2 groups according to the clinical classification of NM: intermediate form (n = 4) and typical form (n = 7). The intermediate group had worse motor function, respiratory function (seated CV and PFT) and QOL relative to the functional capacity compared to the typical group. The indirect assessment of diaphragmatic strength, through SNIP, showed diaphragmatic weakness in both groups.

**Conclusion:** Patients with NM, in their different clinical forms, may present different levels of respiratory, motor impairment and QOL, justifying the phenotypic variability, which is a characteristic sign of the disease. The importance of diaphragmatic assessment must be stressed, especially in

<footnote n="1">¹Núcleo de Tratamento e Estimulacao Precoce, Fortaleza CE, Brazil.</footnote>

<footnote n="2">²Universidade Federal do Ceará, Fortaleza CE, Brazil.</footnote>
patients with a typical clinical form who may have severe respiratory failure with mild motor impairment and preserved walking ability. The physiotherapeutic evaluation of these patients is of fundamental importance so that the therapeutic plans for rehabilitation are drawn up with greater precision and specificity.

ID: 643

Area: Epilepsies

Presentation method: Eletronic Poster

Case report regarding West syndrome and its complications

Gabrielle Miranda Magalhães Pinto¹*, Déborah Araújo Leitão¹, Isabelle Diniz Melo¹, Samuel Lucas Almeida da Silva¹, Isabel Bessa Leite¹, Maria Clara Feitosa de Melo¹, Maria de Fátima Miranda de Oliveira¹, Fabiane Elpídio de Sá Pinheiro¹, José Lucivan Miranda¹

¹Núcleo de Tratamento e Estimulação Precoce, Fortaleza CE, Brazil.

*Correspondence: gabriellemmp1@hotmail.com.

Abstract

**Case Presentation:** MESL, 2 years and 7 months old, female, born at term by cesarean delivery. During pregnancy, the mother had a urinary tract infection twice, as intercurrences. At 5 months, she began to have seizures, spasm-in-flexion type, in clusters. She performed an electroencephalogram (EEG), which displayed a pattern of hypsarrhythmia, and initiated pharmacological treatment for West Syndrome (WS). At 11 months, she began to walk, although she did not crawl. At 16 months, she had neuropsychomotor developmental delay (NPMD). She had daily, persistent seizures even with pharmacological treatment. At 21 months, she presented autistic traits, such as dysfuntional playing, poor eye-to-eye contact, unresponsiveness to calls and speech delay. She also had inadequate gait and irritability when standing up. At 27 months, in addition to daily atonic seizures, she had difficulty walking, global hypotonia, profound hyporeflexia, irregular sleep and autistic traits, making use of several anticonvulsant drugs.

**Discussion:** The case describes complications related to SW, a rare epileptic encephalopathy caused by environmental and genetic factors. This condition, in addition to generating hypsarrhythmia on the EEG, causes frequent epileptic spasms, starting up to the first year of life, and affects the neurodevelopment of children, who tend to have learning difficulties, behavior problems, autism and other sequelae of the disease. The frequency of epileptic seizures is fundamental for the patient's prognosis, because, with each abnormal electrical discharge, thousands of neurons are affected, which can permanently injure brain regions responsible for the individual's cognition and motricity, causing his psychomotor deterioration.

**Final Comments:** In view of the number of complications that WS causes to patients, it is necessary that this encephalopathy be further studied by the scientific community, as early diagnosis and therapeutic intervention contribute in an attempt to reduce the number of epileptic seizures and, consequently, preserve the neurodevelopment of the children, keeping their motor, social and logical skills active.

ID: 645

Area: Neurogenetics

Presentation method: Presentation Poster

Neurologic complications of 10q deletion syndrome associated with trisomy 17q: a case report

Gabrielle Miranda Magalhães Pinto¹*, Déborah Araújo Leitão¹, Isabelle Diniz Melo; Isabel Bessa Leite¹, Samuel Lucas Almeida da Silva¹, Maria Clara Feitosa de Melo¹, Maria de Fátima Miranda de Oliveira¹, Fabiane Elpídio de Sá Pinheiro¹, José Lucivan Miranda¹

¹Núcleo de Tratamento e Estimulação Precoce, Fortaleza CE, Brazil.

*Correspondence: gabriellemmp1@hotmail.com.

Abstract

**Case Presentation:** YSM, 2 years and 9 months old, female, born at term by vaginal delivery. During pregnancy, the mother had anemia in the fifth month. At birth, Apgar 7/8 and head circumference (HC) 34 cm were registered, having to be hospitalized for 1 day due to hypertelorism, bilateral palmar crease variations, nose base flattening, oblique palpebral fissures and micrognathia, generating suspicion of Pierre Robin Syndrome. At 4 months, she took the Brainstem Auditory Evoked Potential Test, which resulted in no response in the right ear. At 10 months, she underwent cranial magnetic resonance imaging, which had a normal result, although microcephaly and neuropsychomotor developmental delay (NPMD) were observed. At 11 months, she was evaluated with hypotonia, craniofacial disproportion, scaphocephaly, in addition to showing little interest in toys, fixed gaze and low social interaction. At 25 months, through the CGH-array duplication of 17q25.3, also showing poor social contact, unmotivated laughter, hypotonia, stereotypies and global ataxia with gait with extended base. At 33 months of age, she remains with NPMD, does not speak, sits in "W", has sensory hypersensitivity, head forward and preference for the bear position.

**Discussion:** The case describes complications related to the 10q deletion syndrome (D10q), a pathology with a prevalence <1/1,000,000, related to the presence of facial dysmorphia, microcephaly, ataxia, stereotypies, deafness, speech delay, hypotonia, micrognathia and PMDN, symptoms detected in the patient, who still has a risk of developing scoliosis, short stature, genitourinary alterations and intellectual disability. It is also noteworthy that the NPMD and the behavior resulting from this deletion in 10q26 is compatible with the symptoms of autism. Furthermore, such symptomatology is also corroborated with Trisomy 17q, which has similar phenotypic characteristics to D10q, except for its 60% penetrance of cardiac anomalies.

**Final Comments:** Given the number of complications that both genetic alterations entail, it is necessary that such mutations be further studied by the scientific community, as these genes substantially affect neurodevelopment. Thus, early diagnosis helps to develop a better therapeutic intervention and improves the quality of life of patients and their families
ID: 646

Area: Neurogenetics

Presentation method: Presentation
Poster

Floppy infant syndrome due to spectrinopathies by SPTBN4 gene

Aline Fonseca Lima¹*, Bruna Torres Homem Fonseca¹, Marcela Rodriguez de Freitas¹, Fernanda Veiga de Góes¹, Sicilia da Rocha Colli¹, Carollyne Bessa Guedes Chacar¹, Júlia Rossi Bazzanella¹, Ludimila Marins de Almeida Moura¹, Tainá Maia Cardoso¹

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

*Correspondence: aline.fonsecalima@hotmail.com.

Abstract

**Case Presentation:** H.S.S., female, eleven months old, first evaluated by child neurology at eight months of age for hypotonia. No parental consanguinity, maternal history of treated gestational syphilis, without other pregnancy or delivery complications nor medical antecedents. At three months of age, difficulty in head control and weight gain was noted. At the initial evaluation, she was malnourished, with almond-shaped eyes, carpal mouth, ogival palate, and bell-shaped thorax. Neurological examination revealed good interaction, global hypotonia, hypotrophy, weakness and areflexia, with tongue myofasciculations. Hospitalization was decided for nutritional evaluation and diagnostic research. Oral feeding was discontinued, gastrostomy indicated, with no respiratory assistance needed. Cranial tomography, brain magnetic resonance imaging and muscle enzymes were normal. Electroneuromyography was suggestive of chronic peripheral preganglionic/neurogenic motor involvement affecting the four limbs. Molecular panel for neuromuscular diseases showed a pathogenic variant c.2147delA; p.Gln716Argfs*27 in homozygosis in SPTBN4 gene. The patient was discharged from hospital and continues in multidisciplinary outpatient follow-up and rehabilitation.

**Discussion:** Spectrins are proteins with support function that bind the plasma membrane to cytoskeletal actin. The SPTBN4 gene encodes the non-erythrocyte beta spectrin 4, a protein required for the clustering of ion channels in the initial segments of axons and in nodes of Ranvier, axonal domains important for the initiation, propagation of modulation of action potentials. SPTBN4 gene-associated disorder has autosomal recessive inheritance and presents with severe developmental delay and/or intellectual disability, congenital hypotonia, weakness, hyporeflexia/areflexia, indicative of neuropathy, and dysphagia. Epilepsy, cortical visual impairment and sensorineural deafness may also be present. The variant found in the patient has not been previously described in scientific literature.

**Final Comments:** Facing a hypotonic infant, it is important to identify the topographic diagnosis by neurological examination and complementary tests. Genetic analysis by next-generation sequencing is essential for definitive diagnosis and genetic counseling. Spectrinopathies present with axonal motor neuropathy/neuronopathy and should be considered in the differential diagnosis of neuromuscular causes of floppy infant.

ID: 647

Area: Neuroinfections

Presentation method: Eletronic Poster

Human herpes virus type 7 viral encephalitis in pediatric patient: a case report

Aline Da Costa Lourenço¹, Danielle Dutra Araújo¹, Olívia Sorato Bezerra¹, Gabriel De Lellis Neto¹, Hugo Leonardo Justo Horácio¹, Renata Yasmin Cardoso Sousa¹, Lygia Ohlweiler¹, Josiane Ranzan¹, Josemar Marchezan¹

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

*Correspondence: olivia.sorato@gmail.com.

Abstract

**Case Presentation:** Male patient, 2 years and 7 months old, with a history of persistent fever secondary to tonsillitis. He used Amoxicillin for 10 days, with an improvement in his fever, but during the treatment he developed a behavioral change, characterized by significant agitation and gait changes. On admission, irritability alternating with drowsiness, chewing movements, patellar hyperreflexia, exhaustible clonus in the feet and refusal to put the feet on the ground were observed. During hospitalization, he had a brief convulsive episode, characterized by hyperextension of the right upper limb and gaze fixation. Central Nervous System infection was suspected. Cerebrospinal fluid analysis showed glucose 66 (finger prick test = 106) / protein 26.2 / leukocytes 48 / neutrophils 1% / monocytes 5% / lymphocytes 94% / viral panel: Human Herpes Virus Type 7 (HHV-7). Electroencephalogram with markedly disorganized background activity and voltage attenuation in temporal regions. Brain magnetic resonance imaging compatible with viral encephalitis. He received Ganciclovir for 21 days, with good motor response, however, there was a worsening of agitation and stereotypies appeared. Later, the stereotypies regressed, but other symptoms of Autism Spectrum Disorder were observed.

**Discussion:** Infection by Human Herpes Virus Type 7 is common in childhood, affecting about 90% of children up to 5 years of age. Its clinical presentation is wide, and the involvement of the Central Nervous System is a recently recognized entity. In preschoolers, there is a higher prevalence of febrile seizures and encephalitis is more common in older children. After infection there is complete recovery, but with developmental disturbances in the convalescence period. Loss of developmental milestones and psychiatric disturbances observed during the infectious process are recovered. In the reported case, the patient evolved with psychiatric disorders and is being followed up at the outpatient clinic.

**Final Comments:** When viral encephalitis is suspected, HHV-7 should be included, especially when the patient has significant behavioral symptoms, since the treatment of choice is Ganciclovir.
ID: 648

**Area: Neuropsychiatric disorders and learning disorders**

**Presentation method: Eletronic Poster**

**Group-based behavioral skills parent-training for improving emotional and behavioral adjustment in children with neuropsychiatric disorders**

Carolina Correia Abati<fnref n="1" />, Lygia Maria Portugal Oliveira<fnref n="1" />,
Maria Cecilia Beltrame Carneiro<fnref n="2" />, Flávia Caroline Figel<fnref n="1" />

*Correspondence: carolinacorreiaabati@gmail.com.

**Abstract**

**Background:** Neuropsychiatric disorders are related to impairment in social, academic and family functioning.

**Objective:** To explore the process of work in a group-based parent training for children with neuropsychiatric disorders.

**Methods:** It is an observational descriptive case study from 46 parents that were responsible for 42 children aged 3 to 14. The parents received a group intervention for 8 weeks. The data were collected using participant observation and health records. It was verified which were the most relevant themes to be addressed in the care of parents.

**Results:** The primary complaints among children were: changes in family dynamics (23.81%), abuse and neglect (21.43%), disruptive behaviors (19.05%) and anxiety symptoms (11.90%). The most frequent secondary complaints were: disruptive behaviors (52.17%), anxious symptoms (21.74%), depressive symptoms (13.04%), self-injurious behaviors (8.70%) and mixed symptoms (4.35%). The most frequent previous diagnosis (11.90%) were Epilepsy and Attention Deficit Hyperactivity Disorder, followed by Oppositional Defiant Disorder (9.52%), Encopresis and Autism Spectrum Disorder (4.76% each). The main themes worked with those parents were: basic human rights; the importance of playing for child development and how to play together; sexual education; unconscious behavioral and family patterns; household chores; marital relationship and sexuality; quality in family interaction and secure attachment; parenting styles; development of social skills applied to parenting; positive discipline; emotional validation; establishing rules and limits and gender and feminism. Approaching parenting from a psychodynamic perspective emphasizes the importance of listening to the parental distress onset to how anguish emerges in the parental phenomenon in each subject and the responses that culture has produced in face of this phenomenon. Each subject, from the elaboration of their history, will respond in a unique way to the forces that the parental field summons. It is necessary to discuss with the parents the gender of the problems they face and what they can expect from their actions, but not tell them precisely what they should do. This type of intervention, focused on aspects related to parenting, also allows techniques from other theoretical frameworks can be integrated.

**Conclusion:** These findings highlight the importance of preventive programs in very early childhood in order to improve problem-solving parent skills.

ID: 649

**Area: Neuroimaging**

**Presentation method: Eletronic Poster**

**Sinus pericranii: as an occasional finding**

Nicole Zanardo Tagliari<fnref n="1" />, Mariane Cibelle Barros<fnref n="1" />, Marco Aurélio Castellano Almeida<fnref n="1" />, Barbara Limberger Nedel<fnref n="1" />, Rodrigo Dalcanalle Garcia<fnref n="1" />, Letícia Antoniuk Seus<fnref n="1" />, Gabriela Maycá Sanfelice<fnref n="1" />, Gabrielle Canto Petter<fnref n="1" />, Emanuele Smaniotto Frederich<fnref n="1" />

*Correspondence: nicolezanardo@hotmail.com.

**Abstract**

**Case Presentation:** Two cases are presented through neuroimaging by different methods performed in healthy patients aged 5 years and 4 months, both with adequate neurodevelopment and asymptomatic. Complementary tests were requested in order to assess the nature of the occasional finding of a palpable lesion on physical examination during a routine pediatric consultation. Cranial ultrasound with Doppler flowmetry demonstrates communication between superficial veins and the sagittal venous sinus. Contrast-enhanced cranial tomography identified a left parietoccipital nodular lesion in the subcutaneous tissue, vascularized and communicating with diploic vessels to the sagittal sinus.

**Discussion:** Pericranial sinus (sinus pericranii) is a rare low-flow vascular malformation related to the development of the cranial vault and the brain venous system. It is characterized by anomalous communication between intracranial dural sinuses and epicranial venous structures. Are closely associated with the periosteum and vary in size according to changes in intracranial pressure. It often involves the superior sagittal sinus. Most of them are congenital and are associated with other anomalies venous, such as aneurysmal malformation of the vein of Galen. From a clinical point, it is usually asymptomatic in childhood. When in adulthood, it can be related to headache, nausea and vertigo. On clinical examination, a tumor with a soft consistency is usually palpable and increases in size with crying/Valsalva maneuver. In addition to the methods of cranial ultrasound and cranial tomography, magnetic resonance imaging confirms a transosseous connection with blood flow from the sagittal sinus to the overlying pericranial varicosity and from the varicosity to an adjacent intracranial vein. Differential diagnoses should be considered, the main ones being dermoid and epidermoid cysts, infantile hemangioma and meningoceles. Treatment is usually surgical by excision, although endovascular therapy (embolization) may be considered. The intervention aims to prevent complications, such as hemorrhage, infection or embolism.

**Final Comments:** Although it is a rare entity, sinus pericranii should be considered as a cause of chronic headache in adolescents/young adults. Therefore, in patients with cranial bulging present since birth, diagnostic hypotheses should extend beyond epidermoid cysts and include consideration of the pericranial sinus, especially when located in the midline.

<footnote n="1">¹Secretaria de Estado de Saúde do Paraná, Escola de Saúde Pública do Paraná, Curitiba PR, Brazil.</footnote>

<footnote n="2">²Universidade Federal do Paraná, Curitiba PR, Brazil.</footnote>

<footnote n="1">¹Hospital Moinhos de Vento, Porto Alegre RS, Brazil.</footnote>
ID: 650

Area: Inborn errors of metabolism

Presentation method: Eletronic Poster

Atypical outcome of a patient with Alexander's disease

Julia Rossi Bazzanella¹, Tainá Maia Cardoso¹, Fernanda Veiga Góes¹, Marcela Rodriguez de Freitas¹, Aline Fonseca Lima¹, Bruna Torres Homem Fonseca¹, Sicilia da Rocha Colli¹, Tiago Dazzi Rigoni¹, Ludimila Marins de Almeida Moura¹

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

*Correspondence: jrbazzanella@gmail.com.

Abstract

**Case Presentation:** The patient is a 7-year-old male child with a history of language delay, intermittent ataxia events and limb tremors in the context of infectious conditions. EEG investigation revealed diffuse slow waves and brain magnetic resonance imaging (MRI) showing hypersignal in the subcortical white matter with frontal predominance and caudate nuclei, suggesting leukodystrophy. Specific genetic evaluation for sequencing of the GFAP gene showed the presence of a pathogenic variant c.716G>A; p.(Arg239His). In five years of follow-up, the patient evolved with regression of the cerebellar syndrome, gains in language, maintaining pyramidal syndrome and mild intellectual disability. New brain MRI shows significant reduction of hyperintensity areas on T2 and FLAIR, in the subcortical regions of the frontal lobes, left occipital lobe, caudate nuclei and white matter periventricular.

**Discussion:** Alexander's disease is a leukodystrophy of autosomal dominant inheritance, predominantly frontal, classified into neonatal, infantile, juvenile and adult forms, depending on age, clinical manifestations and radiological findings. The universal deposition of Rosenthal fibers in the central nervous system is pathognomonic of the disease. The diagnosis is established by neuroimaging findings with the presence of four of the following criteria: cerebral white matter abnormalities with frontal preponderance; periventricular hyposignal on T2 and hypersignal on T1; abnormalities of the basal ganglia and thalamus (hypersignal, atrophy or hyposignal on T2-weighted sequences); abnormalities in the brainstem, mainly medulla and midbrain; and periventricular signal enhancement, frontal white matter, optic chiasm, fornix, basal ganglia, thalamus, dentate nucleus and brainstem. The presence of macrocephaly, psychomotor regression, spasticity, ataxia and epilepsy suggests the genetic investigation of variants in the gene that encodes glial fibrillary acidic protein (GFAP) on chromosome 17q21. The patient evolves favorably, even with the confirmed diagnosis of Alexander's disease and significant regression of the lesions shown on the control MRI, something not described in the literature.

**Final Comments:** Alexander's disease is a slowly progressive leukodystrophy, often confused with chronic non-progressive encephalopathy, requiring molecular tests to confirm the diagnosis. The case report stands out for its favorable evolution and radiological improvement, not described in the literature.

ID: 651

Area: Cerebrovascular diseases and intensive care in child neurology

Presentation method: Eletronic Poster

Cerebral venous thrombosis in pediatrics: a case report

Andrea Sayuri Murata¹*, Fernanda Neli Bruno¹, Mariana Maciel Algazal¹, Elza Akiko Natsumeda Utino¹, Carolina de Souza Thimoteo Gonçalves¹, Armênio Alcantara Ribeiro¹

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

*Correspondence: andreasayurimurata@gmail.com.

Abstract

**Case Presentation:** E.M.B.C., an 11-year-old male, was referred to our service due to complaints of severe headache associated with vomiting for 15 days, with intermittent fever during this period. He had a history of viral meningitis one month prior, remaining asymptomatic during treatment. On physical examination, he was prostrate, with mild neck stiffness, without other alterations. A new liquor collection was performed, without alterations; a computed tomography (CT) scan of the skull showed no changes; a magnetic resonance imaging (MRI) of the skull showed questionable filling defects in the dural venous sinuses, more evident in the left transverse sinus; magnetic resonance angiography of the encephalic venous drainage showed extensive filling defect in the internal jugular vein, sigmoid sinus, and left transverse sinus, extension through the torcula, slight extension to the adjacent superior sagittal sinus and extending through the right transverse sinus, compatible with cerebral venous thrombosis. Further screening for prothrombotic conditions was performed, without changes. Treatment with enoxaparin 2mg/kg/day was initiated, with improvement of symptoms and neuroimaging after 72 hours of treatment.

**Discussion:** Thromboembolic events in the pediatric population, although uncommon, have high morbimortality, with an incidence of 0.07:100,000 children, but with an increased incidence of 60:10,000 in hospitalized children. The mechanisms involved in their occurrence are blood stasis, changes in the vascular wall, and hypercoagulability, and occur due to multifactorial conditions involving genetic and acquired risk factors. Among the main risk factors involved, we can mention hereditary thrombophilias, the use of central venous catheter, infections, trauma, neoplasia, dehydration, among others. Clinical manifestations may vary according to age and include headache, diplopia, cranial nerve paralysis, nausea, and vomiting. The diagnosis is made through magnetic resonance angiography, and investigation for hereditary thrombophilias is recommended in all patients with a diagnosis of thrombosis. Treatment is based on anticoagulation and multiprofessional follow-up. Prognosis is based on the extent of vessel and brain parenchyma involvement, diagnosis, and treatment implementation.

**Final Comments:** In view of this clinical case, the importance of diagnostic suspicion and investigation with possible complications of conditions that did not improve or worsened after appropriate treatment is reinforced.
ID: 652

# Area: Malformations of the central nervous system

## Presentation method: Eletronic Poster

### Aicardi syndrome in an infant: clinical case report

Juliana Coelho Xavier<fnref n="1" />*, Carla Jessica da Silva Fernandes<fnref n="1" />, Ezio Junio Gonçalves Nunes<fnref n="1" />, Stephanie Vaz Schoucair<fnref n="1" />, Lazaro Inacio Araujo Rodrigues<fnref n="1" />, Cinthya Maria Neves Varandas<fnref n="1" />, Francisco Monteiro Meneses<fnref n="1" />, Janeusa Rita Leite Primo Chagas<fnref n="1" />

### Abstract

**Case Presentation:** We report the case of a 6-month-old infant who, since the first month of life, had focal clonic seizures that increased in frequency and intensity over time, followed by posture in infantile spasms. We performed an electroencephalogram showing asymmetric hypsarrhythmia to the left, magnetic resonance imaging of the skull showing corpus callosum dysgenesis with colpocephaly and gray matter heterotopia. Maintaining the clinical suspicion, we requested an ophthalmologic evaluation, recording a bilateral peripapillary chorioretinal gap, confirming the diagnosis. To improve seizures, a drug regimen was started with Vigabatrin 150mg/kg/day, Prednisone 2mg/kg/day with clinical and encephalographic suppression of hysarrhythmia associated with Levetiracetam 30mg/kg/day to control focal seizures.

**Discussion:** Aicardi syndrome is a neurodevelopmental disorder that primarily affects females. Initially, it is characterized by a typical triad of agenesis of the corpus callosum, central chorioretinal lacunae and infantile spasms. As more affected individuals were seen, it became clear that not all affected girls possess all three features of the classic triad and that other neurological and systemic defects are common, including other brain malformations, optic nerve abnormalities, other types of seizures, intellectual disability of varying severity and scoliosis. The diagnosis is based exclusively on clinical findings.

**Final Comments:** This case report highlights the main features that clinicians should consider to suspect this rare genetic condition, emphasizing imaging and electroencephalographic findings.

ID: 653

# Area: Others

## Presentation method: Presentation Poster

### Analysis of food selectivity allied to obesity in children and adolescents with autism spectrum disorder in a municipal public hospital - Fortaleza/CE

Ana Patricia Oliveira Cordeiro<fnref n="1" />,<fnref n="2" />, Jessika Carneiro de Oliveira<fnref n="1" />,<fnref n="2" />, Gabrielle Miranda Magalhães Pinto<fnref n="1" />,<fnref n="2" />, Jose Inayam Estevam Façanha<fnref n="1" />,<fnref n="2" />, Kalleu Fernando de Alencar Carvalho<fnref n="1" />,<fnref n="2" />, Ketsya Oliveira dos Santos Albuquerque<fnref n="1" />,<fnref n="2" />, Pedro Janelson dos Santos Lima<fnref n="1" />,<fnref n="2" />, Ana Patrícia Oliveira Moura Lima<fnref n="1" />,<fnref n="2" />, Francisca Cléa Florenço de Sousa<fnref n="1" />,<fnref n="2" />

### Abstract

**Background:** Autistic Spectrum Disorder (ASD) is a neurodevelopmental disorder that compromises communication and social skills. Selective eating behavior is very present in individuals with autism. Food inadequacies can occur by limiting the intake of vitamins, minerals, and essential fatty acids, requiring nutritional monitoring to intervene with supplements, in order to improve not only the nutritional status but also the behavioral changes that occur with nutritional deficiency.

**Objective:** To investigate the nutritional status of children and adolescents with ASD.

**Methods:** This is a quantitative, observational, cross-sectional, descriptive, and analytical study. Children and adolescents between 4 and 17 years of age, of both genders, diagnosed with ASD were included.

**Results:** The study took place in the city of Fortaleza/CE, in a public hospital that cares for children and adolescents diagnosed with ASD, from March to April 2022, with a total sample of 42 patients. Investigated sociodemographic variables, clinical, anthropometric, and food, data analysis was carried out using the statistical package Jamovi version 1.6.23 using the mean, standard deviation, and Kruskal and Wallis test with statistical significance p < 0.05. There was a higher prevalence of overweight and obesity in both groups, as well as higher factors for food selectivity in children. However, the relationship between selective eating behavior and nutritional status was not significant (P>0.05), although it identified a considerable number of overweight/obese children with food selectivity problems.

**Conclusion:** Special attention should be given to the nutritional status of people with ASD, as there is a prevalence of overweight/obesity and food selectivity factors that can directly and/or indirectly influence the behavior of this group.

ID: 655

# Area: Movement disorders

## Presentation method: Presentation Poster

### Case report: rapid-onset dystonia-parkinsonism related to a pathogenic ATP1A3 variant

Matheus de Souza Rosa<fnref n="1" />, Taynara Montes Araujo Cascão Figueiredo<fnref n="1" />, Vanessa Limeira Pontes Lucena<fnref n="1" />, Laura Defensor Ribeiro Melo<fnref n="1" />, Rafaela Pichini Oliveira<fnref n="1" />, Carla Andreia Tanuri Caldas<fnref n="1" />, Vitor Tumas<fnref n="1" />, Ana Paula Andrade Hamad<fnref n="1" />

### Abstract

**Case Presentation:** A previously healthy 6-year-old child presented with fever, somnolence and gait impairment. Parents sought medical attention and, due to the symptoms suggestive of infection of the central nervous system (CNS), antibiotic and antiviral therapy was performed. Within a few hours, the patient developed flaccid tetraparesis, dysphagia and motor aphasia. There was no initial improvement with antibiotics, so an immunoglobulin cycle was prescribed, with a slight improvement of symptoms. After three months, the child developed dystonic movements, especially in the face, neck and upper limbs, and chorea. She was then referred to our clinic. Infectious screening was negative, electroneuromyography and electroencephalogram were normal. Movement disorders multigenic panel showed a heterozygous

<footnote n="1">¹Obras Sociais Irmã Dulce, Hospital Santo Antônio, Salvador BA, Brazil.</footnote>

<footnote>*Correspondence: juliana_coelho29@hotmail.com.</footnote>

<footnote n="1">¹Universidade de Fortaleza, Fortaleza CE, Brazil.</footnote>

<footnote n="2">²Universidade Federal do Ceará, Fortaleza CE, Brazil.</footnote>

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

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

<footnote>*Correspondence: matheus_bh09@hotmail.com.</footnote>
variant in the ATP1A3 gene - chr19:41,970,540 G >A, compatible with rapid-onset dystonia-parkinsonism (RPD). She also developed depressive symptoms, dysarthria and learning disabilities. Currently in outpatient follow-up, using levodopa, showing a partial favorable clinical response, with progressive motor improvement, becoming more independent in daily tasks.

**Discussion:** ATP1A3-related disorders are rare and have a broad phenotype. One of the classical presentations is RDP. It is an autosomal dominant disorder, with variable penetrance. De novo variants account for 50% of the cases. Its onset is usually in the first two decades of life and preceded by a trigger that can be infectious, psychological, head trauma, exercise, among others. Symptoms start abruptly, with bulbar symptoms, such as dysphagia and dysarthria, cranio-cervical dystonia, mild limb dystonia and bradikinesia. Cognitive impairment, executive function decline and psychiatric symptoms are also part of the disorder. Generally, this condition is not responsive to levodopa. However, our patient showed a partial favorable response, helping her regain motor abilities and walking independently again. Clinical presentation can differ in patients with the same pathogenic variants, even if they are related.

**Final Comments:** ATP1A3-related disorders have phenotypic heterogeneity, with a broad spectrum of clinical manifestations. Clinicians should be alert to this feature in order to identify patients with a suspicious phenotype to make the diagnosis, provide genetic counseling and proper clinical management.

independent analysts, and the identified CNVs were classified according to ACMG guidelines.

**Results:** Of 100 individuals (73 males and 27 females), abnormal CMA results were observed in 22 patients: 8 showed regions of homozygosity (LOH); 13 presented with CNVs only, and one individual had 2 CNVs besides LOHs. A total of fifteen CNVs were detected in 14 patients, being 7 duplications and 8 deletions. We identified two patients with known pathogenic CNVs: one Smith-Magenis syndrome (17p12p11.2 loss, 4.7Mb) and one 22q11.2 deletion syndrome-distal type I (22q11.21q11.22 loss, 2.06Mb). Furthermore, one patient presented with pathogenic losses at 16p13.11p12.3 (2.9Mb) and 18q23 (4.7Mb), two patients had CNVs classified as Likely Pathogenic (16p13.11 gain, 1.238Mb and 5p15.32p15.2 gain, 8.719Mb), and eight represented Variants of Unknown Significance.

**Conclusion:** This study illustrates the potential of CMA analysis and the need for laboratory services to provide current scientific data in all case interpretations, as demonstrated here in our experience. As we present a small sample of our routine, our findings are in line with the literature. The present work was able to show a reliable screening of the population with ASD, showing that the CMA together with the experience of the analysts, and the technical support of the laboratory, is a powerful combination to detect and interpret clinically relevant findings, leading to a better medical management and genetic counseling for affected people and their families

ID: 656

**Area: Neuropsychiatric disorders and learning disorders**

**Presentation method: Presentation Poster**

**Copy number variation findings by chromosomal microarray analysis of 100 individuals with autism spectrum disorders**

Anelisa Gollo Dantas<fnref n="1" />, Milene Vianna Mulatinho<fnref n="1" />, Priscila Soares Rodrigues<fnref n="1" />, Helena Ribeiro Barbosa<fnref n="1" />, Darfni Andrade<fnref n="1" />, Leticia Pereira<fnref n="1" />, Mateus Oliveira Torres<fnref n="1" />, Fernanda Teixeira Bellucco<fnref n="1" />, Maria Isabel Arismendi<fnref n="1" />

**Abstract**

**Background:** Autism spectrum disorders (ASD) is a heterogeneous group of neurodevelopmental disorder with a prevalence of ~1% in the general population. Genetics plays an important role in the etiology of ASD, and the rare variants are the ones that confer a higher risk for an individual. Chromosomal microarray analysis (CMA) is a robust technique recommended in the evaluation of ASD.

**Objective:** Here we present data of our experience using CMA to evaluate the prevalence of copy number variation (CNVs) in ASD individuals referred by neurologists, pediatricians, and clinical geneticists.

**Methods:** Array-CGH. We evaluated 100 unrelated consecutive individuals in our routine cohort from January to March 2023, presenting with ASD. The extracted DNA was submitted to CGH-array 400K (Agilent) protocol. The samples were analyzed using CytoGenomics and Alissa softwares (Agilent). The interpretation and reports were performed by two

ID: 657

**Area: Others**

**Presentation method: Presentation Poster**

**Evaluation of the time of exposure to digital media in children aged 2 to 5 years followed-up in pediatric and child neurology reference services in Salvador-BA: a cross-sectional study**

Victoria Faustino Silva Reis<fnref n="1" />,<fnref n="2" />*, Samantha Lopes Oliveira<fnref n="1" />,<fnref n="2" />, Bruno Santana Alencar<fnref n="1" />,<fnref n="2" />, Rafael Castro Almeida Gouveia<fnref n="1" />,<fnref n="2" />, Lara Cordeiro Magalhães<fnref n="1" />,<fnref n="2" />, Valter Luiz Sant'ana Junior<fnref n="1" />,<fnref n="2" />, Sâmara Pinto Vasconcelos<fnref n="1" />,<fnref n="2" />, Camilo Vieira Santos<fnref n="1" />,<fnref n="2" />

**Abstract**

**Background:** With the advance of technology, changes in family dynamics have occurred, such as the use of media as an ally of parents in the education and entertainment of their children. The concern with the consequences of excessive screen use is recent, and little is known about the harm inherent to this issue. In this scenario, the American Pediatric Society recommends a maximum of 1 hour of screen use per day for children between 2 and 5 years old. However, most families exceed this recommended period.

**Objective:** To describe the average daily time of screen exposure and its possible implications in children aged 2 to 5 years.

**Methods:** Prospective cohort using primary data from patients aged 2 to 5 years old seen by the pediatrics and neurology services of a pediatric hospital in Salvador-BA. We used a questionnaire regarding the child's screen use routine

<footnote n="1">¹Diagnósticos Laboratoriais Especializados, São Paulo SP, Brazil.</footnote>

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

<footnote n="1">¹Escola Bahiana de Medicina e Saúde Pública, Salvador BA, Brazil.</footnote>

<footnote n="2">²Hospital Martagão Gesteira, Salvador BA, Brazil.</footnote>

<footnote>*Correspondence: victoriareis20.2@bahiana.edu.br.</footnote>
and the SPAI questionnaire, used for determination of the smartphone use addiction in parents. The data were analyzed by the SPSS program, version 25.1 for Windows, using Student's t-test and Pearson's chi-square.

**Results:** Of the 478 patients summoned to participate in the survey, 155 fit the sample criteria. Among them, the majority were male (66%) and mixed skin color (52.2%). They started screen exposure when they were <1 year old (46.5%) and were mostly exposed between 2 and 4 hours a day. The groups seen in the pediatric and child neurology outpatient clinics were homogeneous. This study revealed some predictors related to excessive use of screens: having companion while using media (p=0.04), as well as having equipment in the room (p=0.01) and using them during meals (p=0). Furthermore, screen-addicted parents (p=0.04), and minors from Salvador and metropolitan areas (p=0.04) were associated with excessive media use. Furthermore, the present study revealed relation between excessive screen use and irritability (p=0), as well as insomnia (p=0.04).

**Conclusion:** Despite helping parents to keep their children occupied, using smartphones, TVs, computers, and tablets for too long can compromise the kid's neurodevelopmental direct or indirect, with less free time for social interaction. Thus, this study was important to signalize the variants related with excess of screen explosion most impactful in the children's lives

ID: 658

Area: Neuromuscular diseases

Presentation method: Eletronic Poster

**CD59 congenital deficiency treated with Eculizumab: one year of follow-up**

Clara Catharino Pinhati¹, Ana Carolina Monteiro Lessa De Moura¹, Larissa De Carvalho Oliveira¹, Mariana Braga Valadao¹, Marina Belisário Carvalhais¹, Sabrina Stephanie Lana Diniz¹, Yuri Barcelos¹, Juliana Gurgel-Giannetti¹

¹Universidade Federal de Minas Gerais, Departamento de Neuropediatria, Belo Horizonte MG, Brazil.

*Correspondence: claracpinhati@hotmail.com.

Abstract

**Case Presentation:** We present the case of a female patient, healthy until 6 months old, when she presented a first episode of hypotonia and weakness in lower members that occurred 3 days after pentavalent and inactivated polio vaccination. The symptoms lasted 7 days and were followed by progressive improvement without any treatment, but she remained with distal motor deficit. Later, she presented two other episodes of muscle weakness, the first at 1 year old, that occurred 7 days after triple viral and pneumococcal vaccination, and the second at 2 years and 8 months old, after a bug bite. On both occasions, she was admitted to the hospital, diagnosed with Guillain-Barré syndrome (GBS) and treated with intravenous immunoglobulin, followed by partial improvement of the symptoms. Electroneuromyography revealed chronic motor axonal polyradiculoneuropathy. Magnetic resonance imaging of the brain and spine were normal. At 2 years and 10 months, the patient was referred to a pediatric neurology center, with suspicion of recurrent Guillain-Barré syndrome. Genetic testing was requested, and exome study revealed a new mutation in the CD59 gene, in homozygosity. This mutation was initially considered a variant of uncertain significance (VUS), but was later reclassified as pathogenic after immunophenotyping test revealed total

CD59 deficiency. The patient was treated with Eculizumab (30 doses) and followed by a multidisciplinary team for over one year. She has not presented any new episodes of weakness and exhibited significant improvement of motor function since the beginning of the treatment.

**Discussion:** CD59 deficiency is a rare disease characterized by the presence of chronic hemolysis and, less frequently, recurrent demyelination of the peripheral nervous system, resembling GBS. The case above presented clinical phenotype, laboratory and genotype consistent with CD59 congenital deficiency, confirmed by immunophenotyping test. Previous studies in medical literature are scarce, but have demonstrated benefit in the use of Eculizumab for the prevention of new episodes of demyelination and, in some cases, improvement of the motor deficit, which is consistent with what was observed in our patient.

**Final Comments:** The present report demonstrated that recurrent episodes of peripheral demyelination may be associated to genetic conditions such as congenital deficiency of CD59. The genetic diagnosis allowed appropriate treatment with excellent clinical response.

ID: 660

Area: Malformations of the central nervous system

Presentation method: Presentation Poster

**Phase syndrome: case report**

Abner Augusto Cutrim Silva Nunes¹, Fernanda Silveira de Quadros¹, Thaís Barroso Naves¹, Vanessa de Vargas¹, Eduardo João Bruch Filho¹, Francisco Scornavacca¹

¹Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre RS, Brazil.

*Correspondence: abnercutrim@yahoo.com.

Abstract

**Case Presentation:** The PHACE Syndrome is a disease characterized by alterations of the posterior fossa, cervicofacial hemangioma, arterial anomalies, cardiac defects, ocular alterations, sternal or abdominal cleft or ectopia cordis. There is an incidence of 1: 1,000,000 and its prevalence is higher in the Caucasian and Hispanic population with a predominance among women compared to men with a ratio of (9:1).

**Discussion:** The child, a 6-month-old infant, was admitted to the HCSA in POA- RS. She already has a neonatal diagnosis of congenital heart disease associated with facial hemangioma, but the possibility of PHACE Syndrome had never been suggested. After clinical investigation and discussion of the case with a multidisciplinary team, including radiology and ophthalmology, a diagnosis compatible with PHACE syndrome was considered, since in addition to the parietotemporal hemangioma on the left, it presented heart disease affecting the ventricular septum (VSD), cerebellar hypoplasia in the left hemisphere and vernis, associated with Hypoplasia of the right vertebral artery with agenesis of its V4 segment. The Hemangioma is a typical marker of the syndrome, and hypoplasia or agenesis of the cerebellar vermis is the most common brain alteration, also seen in the patient in question. Those with this syndrome may have delays in neuro psycho-motor development, seizures, and strokes not found in the patient in question. It is possible to make an early diagnosis in the prenatal period by ultrasound and the clinic can be perceived at birth, and despite all the findings in the patient in the prenatal period, the hypothesis of this syndrome had
not yet been suggested. In this case, we observed the involve-
ment of two of the major systems and one minor that
comprise the PHACE syndrome, and this is in line with the
prevalence of females, which corresponds to 88% of the
reported cases.

**Final Comments:** The PHACE syndrome is a rare and little-
explored neurocutaneous pathology, it presents alterations
involving several organs and mainly neurological alterations
such as seizures, delay in neuro psychomotor development,
migraine, and swallowing dysfunction, having an important
psychosocial impact for the patient as well as all the family.
This syndrome remains underdiagnosed due to the scarce
number of reported cases. The case described is important, as
it corroborates the awareness of professionals for early
diagnosis, making the treatment as appropriate as possible.

ID: 662

Area: Neurogenetics

Presentation method: Eletronic Poster

Report of two cousins who cultivated phenotypic traits and
genetic variability: the importance of genotype-phenotype
adaptation

Renata Andrade Oliveira<fnref n="1" />*, Emília Katiane Embiruçu de Araujo Leão<fnref n="2" />, Vinícius Lima Ferraz<fnref n="2" />, Jemima Araújo da Silva Batista<fnref n="3" />

Abstract

**Case Presentation:** An 8 years-old boy, with no gestational or perinatal complications, presenting developmental delay, nystagmus, facial dysmorphia, hypotonia, hypotonia, joint hypermobility, patellar luxation, cryptorchidism and hypothyroidism. The genome sequencing revealed a likely pathogenic variant c.3842_3843del:p. (Val1281Alafs*22) in the KAT6B gene, in heterozygosis, associated to Say-Barber-Bie-secker-Young-Simpson Syndrome and Genitopatellar Syndrome, both with autosomal dominant inheritance pattern. Girl, 16 years old, paternal cousin of the firt case, presenting consanguinity (first cousin parents with paternal and maternal grandparents monozygotic twin brothers) with no gestational or perinatal complications presenting developmental delay, nystagmus, facials dysmorphias, hypotonia, low visual acuity, ataxic gait, alopecia, finger syndactyly and patellar luxation. In the genome was found a pathogenic variant c.830del:p (Gly277AlafsTer20), residing in the CDH3 gene, in homozygosity; and another probably pathogenic variant c.3379A>T:p.(Lys1127Ter) in the PRX gene, in homozygosity. The CHD3 gene is associated with the phenotypes of Ectodermal Dysplasia, Ectrodactyly and Macular Dystrophy (DEEDM) and Congenital Hypertrichosis with Juvenile Macular Dystrophy (HCDM), both with recessive autosomal inheritance; while the PRX gene is related with the phenotypes of Charcot-Marie-Tooth Disease 4F type, of autosomal recessive inheritance, and of Dejerine-Sottas Disease of autosomal dominant or recessive inheritance.

**Discussion:** Diseases associated with the genes reported in the diagnostic analysis of these cousins are rare, with an estimated global prevalence of <1/1,000,000. The increase in the frequency of autosomal recessive diseases caused by consanguinity is due to the finding of rare variants in alleles inherited from a common ancestor. The identification in homozygosis, in two genes reinforce the parental relationship

of parents. In the grisl's case it can be observed that the
characteristics of the complex phenotype correspond to
alterations in two distinct genes. However, characteristics
often shared by members of the same family need to be better
investigated by molecular genetic tests.

**Final Comments:** The described individuals, despite sharing important family consanguinity, as well as some phenotypic characteristics suggesting involvement of one or more genes segregating in the family, have distinct molecular diagnosis.

ID: 663

Area: Neurogenetics

Presentation method: Eletronic Poster

Coffin-Siris syndrome: a case report

Laura Comeli Ordonho<fnref n="1" />*, Benaia Silva<fnref n="1" />, Luís Paulo Dutra<fnref n="1" />,
Marino Miloca Rodrigues<fnref n="1" />, Petrus Davi Pinheiro Freire<fnref n="1" />

¹Pontifícia Universidade Católica de Campinas, Campinas SP, Brazil.

Abstract

**Case Presentation:** An infant male, born full-term via cesarean section, with an Apgar score of 9/10 and a weight of 2400g. At 11 months, he exhibited social smiling, head control, and vocalizations, but he did not sit with support or speak, and a global delay in development was suspected. Physical examination revealed brachycephaly, preserved strength in the limbs, axial, gluteal, and limb hypotrophy, limb length discrepancy, thickened fingers and toes, prominent abdominal wall, and anteverted nostrils. Magnetic resonance imaging of the brain showed partial agenesis of the corpus callosum and prominence of extra-axial cerebrospinal fluid spaces in the frontotemporal regions. Genetic evaluation at 12 months of age revealed brachycephaly, long eyelashes, a long and mildly pronounced nasolabial filter, low hair implantation on the forehead, hirsutism, increased space between the first and second toes, prominent hallux, and hypoplasia of the distal phalanx of the fifth finger of the left hand. Peripheral blood karyotype was normal (46 XY), and microarray analysis showed a microdeletion on the long arm of chromosome 6 (6q25.3), corresponding to the interstitial region containing the ARID1B gene associated with Coffin-Siris syndrome. Currently, at 2 years of age, the patient still exhibits delay in neuropsychomotor development. He cannot speak or walk and sits with support. He is receiving physical, occupational, and speech therapy.

**Discussion:** Coffin-Siris syndrome is a rare disorder, with less than 300 confirmed cases identified through molecular testing to date. It is characterized by hypoplasia or aplasia of the distal phalanx or nail of the fifth finger, delayed neurodevelopment, distinctive facial features, hirsutism, hypotonia, and sparse hair on the scalp. One of the main genes associated with the syndrome is ARID1B, whose mutation, usually resulting from a de novo event, impairs the process of chromatin remodeling in the body. In severely affected children, the prognosis is poor, and they may die due to aspiration pneumonia or seizures. Therefore, when presented with a suggestive clinical picture, genetic investigation should be carried out in order to establish a diagnosis and prompt multidisciplinary management.

**Final Comments:** Coffin-Siris syndrome can result from muta-
tions in various genes, with ARID1B being the most frequent,
leading to a multisystemic clinical picture that, if diagnosed
early, has a beneficial prognostic impact.

<footnote n="1">¹Obras Sociais Irmã Dulce, Salvador BA, Brazil.</footnote>

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

<footnote n="3">³Universidade Federal do Vale do São Francisco, Petrolina PE, Brazil.</footnote>

<footnote>*Correspondence: renata.rao@hotmail.com.</footnote>

<footnote>*Correspondence: laucomeliordonho@gmail.com.</footnote>
ID: 664

Area: Epilepsies

Presentation method: Eletronic Poster

Epidemiological analysis of the distribution of child and adolescent deaths due to epilepsy in Brazil between 2012 and 2022

Érica Otoni Pereira Miranda<fnref n="1" />*, Guilherme Rocha Cardoso<fnref n="1" />, Odivan de Souza Lopes<fnref n="1" />, Valéria Bruna Sousa Batista<fnref n="1" />, José Lucas Oliveira Ribeiro<fnref n="1" />, Victor Santos Vilares<fnref n="1" />, Davi Tanajura Costa<fnref n="1" />

¹Universidade Estadual do Sudoeste da Bahia, Vitória da Conquista BA, Brazil.

*Correspondence: ericaotoni15@gmail.com.

Abstract

**Background:** Epilepsy is associated with high mortality, especially in children and adolescents, who are the main affected population. The major causes of death in this group are Sudden Unexpected Death in Epilepsy, accidents, "status epilepticus", suicide and epilepsy surgery.

**Objective:** To analyze the epidemiological distribution of deaths of children and adolescents due to epilepsy in Brazil.

**Methods:** It is a quantitative-descriptive ecological study, with data from the Department of Informatics of SUS - DATASUS - obtained from the SUS Hospital Information System (SIH/SUS), with the variables: region, year of care (2012 to 2022), mortality rate, deaths; and the selections: epilepsy and age group 1.

**Results:** Between 2012 and 2022, 1,508 deaths of children and adolescents up to 19 years old due to epilepsy were recorded in Brazil, the Southeast (SE) region concentrated the majority of cases with 516 deaths (34,22%), slightly ahead of the Northeast (NE) region - 506. As for the mortality rate, however, the North (N) region stands out (0.92 deaths/ 1000 people), followed by the NE and SE regions, with 0.75 and 0.54, respectively. This might indicate a deficit in health-care for epilepsy in that age group in the North and Northeast regions. Moreover, the highest mortality rate was in children under 1 year old, with a value of 0.96, followed by the range of 15 to 19 years old (0.89). The North region had the highest mortality rate in the youngest age group, 1.43.

**Conclusion:** The distribution of deaths from epilepsy between 0 and 19 years of age in Brazil has the Southeast as leader, with values slightly above those of the Northeast. However, regarding the mortality rate, the North stands out in relation to both regions, also presenting the worst rates for the extremes analyzed. More studies are needed to analyze the influence of regional variants on mortality in this population.

ID: 665

Area: Inborn errors of metabolism

Presentation method: Presentation Poster

Defect in 14B peroxisomal biogenesis evidencing clinical manifestations by mutation in the PEX11B gene

Lara Ramos Vasconcelos<fnref n="1" />,<fnref n="2" />, Helen Ramos Vasconcelos<fnref n="1" />,<fnref n="2" />, Mariana Lasmar Corrêa<fnref n="1" />,<fnref n="2" />, Maria Eduarda Ramos Leite<fnref n="1" />,<fnref n="2" />, Maria Eduarda Vieira Pereira<fnref n="1" />,<fnref n="2" />, Julia Gonçalves Bressane Campos<fnref n="1" />,<fnref n="2" />, Gabriela Paiva Rodrigues<fnref n="1" />,<fnref n="2" />, Jaciel Rodrigues Silva<fnref n="1" />,<fnref n="2" />, Fernanda Tavares Oliveira<fnref n="1" />,<fnref n="2" />

*Correspondence: lara.ramosv99@gmail.com.

Abstract

**Case Presentation:** MRGS, male, 23 years old. At 3 months old presented nystagmus episodes and congenital cataract was evidenced. Evolved with generalized tonic-clonic seizures, neuropsychomotor development delay and hyporeflexia in the lower limbs. Exome evidenced defect in 14B peroxisomal biogenesis (PBD14B) (OMIM # 614920), which may lead to loss of function of the main PEX11B gene transcript. Genetic counseling was recommended. Currently using anti-seizure polypharmacy, still presents seizures, walking difficulties, dyspraxia and dysarthria, and symptoms of severe autism.

**Discussion:** The peroxisome plays pivotal roles in the plasmalogen, cholesterol and biliar acids synthesis, and in the very-long-chain fatty acids catabolization. Its biogenesis involves different processes in which peroxins or PEX proteins are involved and are encoded by PEX genes. Peroxisomal disorders constitute the inborn errors of metabolism and are still few reported due to the fact that they are quite rare and to the short-time existence of the exome, the test that identifies the genetic alterations. Defects in peroxisomal biogenesis caused by biallelic mutations in the peroxin genes (PEX) generate accumulation of fatty acids in the body, which are harmful to neuronal cells. In the described case, the exome revealed a defect in 14B peroxisomal biogenesis (PBD14B), an autosomal recessive disorder. It is caused by mutation in the PEX11B gene on chromosome 1q21 and is characterized by mild intellectual disability, congenital cataract, progressive hearing loss and polyneuropathy. They may be associated with dysmorphisms, malformations, neurological regression, hypotonia, seizures, cataracts, retinopathy, hepatomegaly and jaundice.

**Final Comments:** Regardless the fact that inborn errors of metabolism are incurable, recent advances in medicine have significant raised improvement for the quality of life of those affected ones, guaranteeing them a greater chance of survival, while new more effective and definite treatments are developed. To date, only a limited number of peroxisomal biosynthesis' disorders caused by PEX11B gene mutations have been clinically discovered. Therefore, expanding neonatal screening programs is crucial for early diagnosis, which, in turn, leads to interventions in the first year of life, which enables a better prognosis and the development of new management strategies for the disease in the future.

ID: 666

Area: Neuroimaging

Presentation method: Eletronic Poster

Bilateral basal ganglia germinoma in an adolescent presenting with cerebral hemiatrophy

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

¹Universidade Federal de São Paulo, Escola Paulista de Medicina, São Paulo SP, Brazil.

*Correspondence: louise.tavares@hotmail.com.

Abstract

<footnote n="1">¹Faculdade de Medicina do ABC, Santo André SP, Brazil.</footnote>

<footnote n="2">²Universidade José do Rosário Vellano, Alfenas MG, Brazil.</footnote>
**Case Presentation:** A previously healthy 16-year-old adolescent developed subacute behavior change characterized by depressed mood. Four months later she presented progressive proportionate right hemiparesis associated with polydipsia and polyuria symptoms. In the following months, she started with amenorrhea, dysphagia, dysarthria and slowly progressed to important cognitive impairment. One year after the onset of symptoms, the patient was admitted to our service. Her first neurological examination showed poor language, pseudobulbar affect, dysarthria and proportionate right hemiparesis with bilateral pyramidal tract signs. Brain MRI showed: periventricular bilateral infiltrative lesion, hyperintense in T2/FLAIR with heterogeneous enhancement and perilesional edema associated with marked left frontal lobe and striated nucleus hemiatrophy. Germ cell tumor of the basal ganglia was suspected. Her alpha-fetoprotein and human chorionic gonadotropin in the serum were normal and biopsy confirmed primary germinoma. She was put on chemoradiotherapy and although motor sequelae persisted, a 5 year recurrent-free condition was achieved.

**Discussion:** Germinoma is the most common intracranial germ cell tumor and usually arises from the midline. Basal ganglia germinomas are a rare entity, representing only 5-10% of all germinomas. These tumors are usually unilateral, and bilateral occurrence is extremely rare. It has a slow clinical course characterized by hemiparesis, neuropsychiatry symptoms, endocrinological changes, oculomotor palsy, speech or visual disturbance. The diagnosis is suggested by peculiar neuroimage findings: one third of the patients present with cerebral and/or brain stem atrophy and usually image hyperintensity is commonly seen in T1 and T2-weighted images. Hemiatrophy can be subtle and occur prior to clinical manifestation. It has been hypothesized that the phenomenon of ipsilateral cerebral hemiatrophy is caused by wallerian degeneration of efferent and afferent fibers from the basal ganglia and thalamus due to destruction of ganglia cells and nerve fibers caused by the tumor and the consequent interruption of thalamocortical connections.

**Final Comments:** We report a rare case of bilateral basal ganglia germinoma. We recommend that this entity should be suspected in cases presenting with basal ganglia focal lesion, progressive hemiparesis, behavior symptoms and ipsilateral cerebral or brain stem hemiatrophy, aiming for an early diagnosis and treatment to reduce morbimortality.

ID: 667

Area: Cerebral palsy

Presentation method: Eletronic Poster

## Epidemiological profile of hospitalizations for cerebral palsy in childhood in Brazil from 2017 to 2022

Giovana Andrade de Oliveira<fnref n="1" />, Emmanuel Santos Trindade<fnref n="1" />, Guilherme Rocha Cardoso<fnref n="1" />, Odivan de Souza Lopes<fnref n="1" />, Victor Santos Vilares<fnref n="1" />, Mariana Oliveira Salamargo<fnref n="1" />, Davi Tanajura Costa<fnref n="1" />

## Abstract

**Background:** Cerebral Palsy (CP) is a permanent disorder of the development of movement and posture due to damage to the developing brain. Its incidence is 3:1,000 live births, representing the main cause of physical disability among children. However, there are few studies about the epidemi-

ology of CP in Brazil, indispensable for the creation of health policies and programs for prevention and assistance, which justifies the need for this paper.

**Objective:** To evaluate the epidemiological profile of hospitalizations for CP in childhood in Brazil between 2017-2022.

**Methods:** This is an analytical observational ecological study using data on CP obtained from the Hospital Morbidity System (SIH/SUS) of DATASUS. The period from January/2017 to December/2022 was analyzed, using the variables: Year of processing, age group 1, sex, ethnicity, region and hospitalizations. Microsoft Excel version 2010 was used for data analysis.

**Results:** Between January/2017 and December/2022, there were 18,697 hospitalizations for CP of individuals up to 19 years old in Brazil. Regarding sex, males predominated (1.34:1), with the highest ratio in the North region (1.41:1). Most cases occurred in the 5-9 years old (28.99%) and 10-14 years old (26.23%) age groups. As for ethnicity, the majority of patients (62.09%) had no identification, except in the South region (32.47%). Among the cases with identification, the Brown ethnicity (17.52%) predominated in the North, North-east and Central-West regions, while white people (18.10%) prevailed in the other regions, which may be related to the access to health services. Furthermore, hospitalizations reduced 28.41% between 2019 and 2020. This drop was more expressive in the North region (48.04%). Such decrease may be associated with the COVID-19 pandemic, either due to underreporting by health professionals or less demand for health services by the patients.

**Conclusion:** These data reveal a predominance of hospitalizations for CP in males, between 5-14 years old. The lack of identification of the patients' ethnicity limited the analysis of correlations between ethnicity and hospitalizations, demonstrating the need for better identification of patients in health services. Further studies will be needed to elucidate the possible relationship between male sex and hospitalization for CP, in addition to the contribution of age group, ethnicity and the impacts of the COVID-19 pandemic.

ID: 668

Area: Neuromuscular diseases

Presentation method: Presentation Poster

## Translation and cross-cultural adaptation of the HFMSE into Portuguese-Brazil

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

## Abstract

**Background:** Spinal Muscular Atrophy (SMA) is the second most common neuromuscular disease in childhood, with an estimated incidence of 1 in 11,000 live births. It leads to progressive muscle weakness and consequently affects functional motor skills. In the last years, therapies that modify the natural history of SMA have been developed, making the use of instruments capable of objectively detecting the response to treatment and clinical evolution of patients essential.

**Objective:** To translate and cross-culturally adapt to Portuguese-Brazil and determine the reliability and validity of the HFMSE (Portuguese-Brazil). Investigate the relationship of

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

<footnote>*Correspondence: giovanaandrade36@gmail.com.</footnote>

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

<footnote>*Correspondence: gurgelgiannetti@gmail.com.</footnote>
motor function with other measures, such as vital capacity (VC), peak cough flow (PCF), muscle strength and joint amplitudes.

**Methods:** The translation process and cross-cultural adaptation followed international guidelines recommendations. Two examiners assessed the participants for interrater reliability, through the analysis of Kappa reliability agreement (k) and Intraclass Correlation Coefficient (ICC). Validation consisted of applying the HFMSE scale and analyzing its correlation with other relevant variables, such as muscle strength, respiratory function and joint amplitudes.

**Results:** The HFMSE was successfully translated and cross-culturally adapted to Portuguese-Brazil. Twenty-eight children/adults SMA type 2 and 3 were enrolled in the study (Type 2 = 14; Type 3 = 14). Fifteen (54%) were women and mean age of 20,6 ± 11, 8 years old. The ICC for the total score showed very high reliability (ICC =1.00). A statistically significant correlation was observed between the HFMSE and the VC measurement (p < 0.001), however there was no significance (p > 0.05) for the PCF measurement. Regarding the presence of contractures, it was observed that hip and knee flexor contractures are found in 92.9% of SMA type 2 participants and are directly correlated with the score obtained in the HFMSE (p < 0.05). The muscle strength values obtained using the manual dynamometer were significantly higher in SMA type 3 participants compared to type 2 SMA participants. Through the results, it was possible to observe that the knee extensors (2.4 ± 3.1 lbs) were the most compromised muscle group in both phenotypes.

**Conclusion:** The HFMSE (Portuguese-Brazil) proved to be valid and reliable for the evaluation of patients with SMA type 2 and 3 in Brazil

ID: 669

Area: Others

Presentation method: Presentation Poster

Analysis of epidemiology of acute flaccid paralysis and polio vaccination coverage in the northeast region of Brazil from 2015 to 2019

Pedro Ferreira de Souza Evangelista¹,²*, Emmanuel Santos Trindade¹,², Camila Silveira Silva Teixeira¹,²

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

²Universidade Estadual do Sudoeste da Bahia, Vitória da Conquista BA, Brazil.

*Correspondence: pedro-evvan@gmail.com.

Abstract

**Background:** Acute flaccid paralysis or poliomyelitis is an acute infectious viral disease, prevalent at any age, of compulsory notification in Brazil. In its most severe form, it develops motor deficits that cause paralysis, especially in the lower limbs. Among the preventive actions are the immunizations, Inactivated Poliomyelitis Vaccine (IPV) and Oral Poliomyelitis Vaccine (OPV), with coverage ≥ 95%. However, in recent years a drop in vaccination coverage has been observed, mainly due to misinformation, leading to an increase in the number of cases of the disease.

**Objective:** To estimate the number of reported cases of acute flaccid paralysis and the proportion of vaccination coverage in the Northeast region of Brazil, from 2015 to 2019.

**Methods:** This is a descriptive study based on notification data of cases of acute flaccid paralysis available in the Notifiable Diseases Information System (SINAN), for the period from

2015 to 2019. To evaluate the vaccination coverage for poliomyelitis in the same period, data from the National Immunization Program Information System (SI-PNI) were used. All data refer to the Northeast region of Brazil.

**Results:** Between January 2015 and December 2019, 956 cases of acute flaccid paralysis were reported in the Northeast region, noting an increase of 8.6% between 2015 (186 cases) and 2019 (202). The only states that did not record an increase from the first to the last year analyzed were Alagoas (-23.08%), Pernambuco (-16.13%) and Bahia (-8.57%), however, the same states show a tendency to increase the number of cases after a decrease in 2016. As for vaccination coverage, there was a 17.63% drop in IPV coverage and 17.72% in its booster (OPV), throughout the period. In 2019, no state reached the stipulated coverage of 95%, to the detriment of 2015, when all states, with the exception of Piauí, Alagoas and Sergipe, had adequate coverage for polio; only the states of Ceará and Pernambuco achieved the coverage target for polio booster in the analyzed period.

**Conclusion:** The analysis of the collected data reveals an increase in cases of acute flaccid paralysis in the Northeast region of Brazil between 2015 and 2019, along with a decrease in vaccination coverage for polio (IPV) and its booster (OPV). Such changes alert to the risk of reintroduction of poliovirus circulation in our country, which was considered eradicated in the Americas in 1994 by PAHO (Pan American Health Organization).

ID: 672

Area: Neuroimmunology, multiple sclerosis and other demyelinating diseases

Presentation method: Presentation Poster

Anti-MOG-associated disease: overlapping syndromes

Eduardo Silveira Marques Branco¹*, Amanda Povoa de Paiva¹, Bruno Antunes Contrucci¹, Roberta Fantauzzi Borges¹, Vanessa Limeira Pontes de Lucena¹, Ana Paula Ribeiro Faria¹, Maiave Micaelle Figueredo de Matos¹, Maria Avanise Yumi Minami¹, Ana Paula de Andrade Hamad¹

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

*Correspondence: eduardosilveiram.branco@hotmail.com.

Abstract

**Case Presentation:** A 9-year-old previously healthy girl was referred to our emergency with psychomotor retardation, headache, and vomiting for the last 40 days. She has had a fever in the first 2 weeks and brief self-resolved episodes of right arm limbs weakness, dysphagia, and urinary incontinence. Head CT and MRI performed within 10 days of symptoms were normal. On neurologic exam, she presented marked fluctuation in consciousness, pyramidal liberation syndrome on both legs and cerebellar ataxia. Another CT was performed to exclude intracranial hypertension. Laboratory screening for metabolic disturbances came normal. Lumbar puncture revealed 8 cells with lymphomononuclear predominance, 0 red blood cells, 30mg/dl protein, 48mg/dl glucose (glycemia 91mg/dl), negative cultures, and positive oligoclonal bands. After 75 days of the first symptom, we managed to do a brain and spinal cord MRI which showed small nodular foci of T2/Flair hyperintensity on the anterior branch of the left internal capsule, cerebellum, pons, medulla oblongata and periventricular (leukodystrophy-like phenotype), as well
as T2-hyperintensity with enhancement on C2, C3-C4 and T6-T7, enhancement of thoracic and lumbar roots, cauda equina and leptomeningeal enhancement at conus medullaris. A cell-based assay for serum MOG-IgG became positive. An electroencephalogram showed mild to moderate dysfunction and focal epilepsy. The patient received methylprednisolone 1g for 5 days, followed by human immunoglobulin 2g/kg for 2 days, and, later, a second course of pulse therapy, so she was discharged asymptomatic.

**Discussion:** Anti-MOG associated disease (MOGAD) is one of the acquired demyelinating central nervous system disorders most common in children with different phenotypes, which can occur in isolation or various combinations. They are acute disseminated encephalomyelitis (ADEM), optic neuritis, myelitis, cortical encephalitis, cerebellitis, and brainstem syndromes. Initial brain or spinal cord MRI in MOGAD can be normal in up to 10% of cases despite severe acute disability, which, added to the possibility of overlapping syndromes, including an opening in the form of encephalitis with later evolution to a demyelinating condition, makes the most challenging diagnosis.

**Final Comments:** The case reinforces the possibility that patients with anti-MOG-associated cortical encephalitis may experience previous, concomitant, or subsequent clinical and/or radiological demyelinating events.

ID: 673

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

### Presentation method: Presentation Poster

**Hopkings syndrome: case report**

Laura Domingues Fuster Pinheiro¹, Jaqueline Mendonça Gondim¹, Eduardo Vaz de Sousa Ferreira¹, Amanda Miranda Brito Araujo¹, Lucas Fernando Chicheto¹, Laura Defensor Ribeiro de Melo¹, Amanda Povoa de Paiva¹, Maiave Michelle Figueiredo de Matos¹, Ana Paula de Andrade Hamad¹

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

*Correspondence: jaquelinemendoncagondim@gmail.com. Abstract

**Case Presentation:** A previously asthmatic 10-year-old girl, with irregular treatment, presented to the emergency with a severe acute exacerbation. She didn't respond to any initial medication and needed invasive ventilation for 5 days. After withdrawal of sedation, asymmetric paraplegia was noted associated with pain, areflexia in all but right achilles which has hyporeflexia, and Babinski sign on the right. Her upper limbs had minimum weakness and readily symmetric reflexes with a positive Hoffman sign. A head CT revealed a left arachnoid cyst at the posterior fossa causing minimal mass effect against cerebellum, pons, and medulla oblongata. Therefore, a lumbar puncture was contraindicated. A needle electroneuromyography showed asymmetric motor axonal neuropathy/neuropathy and a spinal cord MRI revealed enhancement of ventral roots of the cauda equina. Considering the gravity of the symptoms, we gave human immunoglobulin 2g/kg for 5 days. Later, a somatosensory evoked potential in the legs revealed reduced amplitude on the left, corroborating the head CT finding, which we attributed, after discussing with neurosurgeons, that it was a previously non-

symptomatic lesion. She improved her arms' strength but was discharged using wheelchairs and referred to rehabilitation. **Discussion:** Hopkins syndrome (HS) is a rare condition, with almost 40 cases reported worldwide. It is characterized by acute flaccid paralysis of one or more limbs, usually asymmetrically, due to lesion of the anterior horn of spinal cord subsequently a severe asthma exacerbation. Sensitivity and urinary-rectum sphincters are preserved. Children are most susceptible, and the etiology is still not well understood. It is suggested that neurotropic viruses, corticosteroids immunosuppression, neurotoxic drugs such as xanthines and neuromuscular blockers, or cross-reactivity between an allergen and the peripheral nervous system. Symptoms develop when bronchospasm begins remission, evolving to paralysis within hours a day. There is no definite treatment and patients must initiate rehabilitation as soon as possible. Residual deficits usually persist but fortunately, episodes of HS rarely recur. There have been some reports of clinical improvement after intravenous immunoglobulin and prednisolone.

**Final Comments:** Albeit rare, HS must be on the radar for differential diagnosis in a child with asymmetric acute flaccid paralysis following severe respiratory distress caused by asthma exacerbation.

ID: 675

## Area: Epilepsies

### Presentation method: Eletronic Poster

**Optimization of seizure control using cannabidiol in a patient with Lennox-Gastaut syndrome**

Arthur Barbosa Santos¹,²,³*, Maria Eduarda Teixeira Alves¹,²,³, Davi Lucas Ribeiro Rodrigues¹,²,³, Fernanda Castro Soares¹,²,³, Marcelus Henrique Vinhal Andrade¹,²,³, Adoaldo Rodrigues da Silva Filho¹,²,³, Livya Isabella Teles de Oliveira Lima¹,²,³, Thiago Madureira Brandão¹,²,³, Renata Ivanilde da Mata Borges¹,²,³

¹Faculdade Atenas, Sete Lagoas MG, Brazil.

²Faculdade Atenas, Paracatu MG, Brazil.

³Universidade Federal de Minas Gerais, Belo Horizonte MG, Brazil.

*Correspondence: arthurbarbosasantos41@gmail.com.

### Abstract

**Case Presentation:** ADS, 18-years-old, suffered from neonatal hypoxic-ischemic syndrome, which later developed into Lennox-Gastaut Syndrome. He presents global developmental delay with significant cognitive deficits and is followed up in an outpatient clinic for refractory epilepsy in childhood. He experiences frequent seizures, including drop attacks, myoclonic seizures, absence seizures, hypertonicity, hyperventilation and head version. In 2016 he underwent a corpus callosotomy and displayed some clinical improvement. He is currently taking multiple drugs, including three benzodiazepines. Additionally, he has autism spectrum disorder and difficult-to-treat insomnia. Cannabidiol was recently introduced into his prescription resulting in positive outcomes in sleep parameters and seizure control.

**Discussion:** Lennox-Gastaut Syndrome is a rare form of epilepsy that mainly affects children and adolescents. It is characterized by multiple types of seizures and severe cognitive impairment. ADS case presents a particularly challenging situation due to both the inherent characteristics of the disease and the socio-economic determinants involved. This case highlights the challenge in optimizing seizure control, a typical feature of the syndrome, even when using multiple drugs, as well as the inexorable cognitive impairment that accompanies it. The use of Cannabidiol is still controversial
and yet requires additional studies in order to determine it's efficacy in epileptic patients, recommended dose and long-term effects. Nonetheless the compound has shown to be effective as an adjunctive treatment for epileptic patients who do not achieve good control with conventional medications. The introduction of cannabidiol into the patient's therapeutic regimen contributed to decrease seizure frequency and improve his insomnia, resulting in better quality of life for both patient and family.

**Final Comments:** This case illustrates the complexity and challenges in treating patients with Lennox-Gastaut Syndrome. These challenges increase as different social determinants are added to the context. It highlights new possibilities for treatment using Cannabidiol, which, although requiring further studies, has emerged as an additional option to conventional therapies in refractory epilepsy. Based on this case, Cannabidiol emerges as a promising principle and new research should be encouraged to achieve improvements in seizure control for patients with Lennox-Gastaut Syndrome.

modest contributor to the hormone deficit. On the other hand, 1 article made this association between CRD and the increase in the habenula in children with autism. Furthermore, at the genetic level, 25% of the studies reported disturbances in the expression of the clock gene, which regulates the circadian cycle, and 16.6% reported post-translational and post-transcriptional modification, with emphasis on miRNA alterations. In the gestational analysis, 1 article demonstrates that the immature or interrupted formation of the ultradian rhythm during the fetal period can generate CRD. Regarding the manifestations, 41.6% of the articles reported behavioral alterations, with social withdrawal (16.6%) and stereotyped behaviors (16.6%) being the most common, with 1 article reporting that stereotypes cause impairment in sleep and 1 that CRD accentuates stereotyped movements.

**Conclusion:** In terms of emotions, the main report was increased irritability.

ID: 676

Area: Sleep disorders

Presentation method: Presentation Poster

**Correlation between circadian cycle disorders and autism: an integrative literature review**

Ana Lucy Peixoto Rabelo<fnref n="1" />, Laura Lino Gonçalves<fnref n="1" />,⁵, Sofia Lorenzoni Vale<fnref n="1" />, Stefanne Cássia Pereira da Silva<fnref n="1" />, Edynando Di Tomaso Santos Pereira<fnref n="1" />, Rodrigo Hideki Sousa Omoto<fnref n="1" />, Ingrid Vitória Genú Mendes de Sousa<fnref n="1" />, Gunnar Lopes Bitencourt<fnref n="1" />, Milton Cesar Vasconcelos Machado Junior<fnref n="1" />

*Correspondence: lauralinog@gmail.com.

**Abstract**

**Background:** Sleep is essential in a child's development. Poor sleep quality is related to health impairments, even affecting the development quotient (DQ). Children with Autistic Spectrum Disorder (ASD) need specific attention with regard to sleep quality, as their neurodevelopmental disorder can be the cause of lower sleep efficiency and also be intensified by it.

**Objective:** Search the literature for the relationship between circadian cycle disorders and autism.

**Methods:** This study is an integrative, qualitative and descriptive review of the literature. For the elaboration of the research, the combination of descriptors, available in Health Sciences Descriptors (DeCs) was used together with the Boolean operator "AND". These descriptors were: Circadian Rhythm Sleep Disorders; Autism. In addition, the PICO strategy was used to develop the guiding question "What is the correlation between Circadian Cycle Disorders and Autism in children?". Meanwhile, the databases available in the Virtual Health Library (VHL) and in the PubMed database were used. The following inclusion criteria were met: studies available in full with free access, published in the last 5 years, in English, Spanish or Portuguese.

**Results:** 12 articles were included in the review. Of these, all reported a link between autism and circadian rhythm disorders (CRD), with the main link being direct melatonin deficiency (50%). Thus, 25% of the studies analyzed the role of pineal gland volume (PGV), with 2 articles reporting no correlation between the factors and 1 that the PGV acted as a

ID: 678

Area: Malformations of the central nervous system

Presentation method: Eletronic Poster

**Epidemiological profile of hospitalizations for Spina Bifida in the Southeast between 2017 and 2022**

Lukas Santos Freire<fnref n="1" />*, Davi Tanajura Costa<fnref n="1" />, Erica Otoni Pereira Miranda<fnref n="1" />, Rebeca Lima de Almeida Santos<fnref n="1" />, Pedro Ferreira de Souza Evangelista<fnref n="1" />, Ronaldo Teixeira da Silva Junior<fnref n="1" />

*Correspondence: lukasfreire15@gmail.com.

**Abstract**

**Background:** Spina Bifida (SB) is a congenital malformation characterized by a defect in the neural tube's closure. Thus, as a chronic condition, its clinical complications, whether neuromotor, orthopedic or renal disorders, have an impact on morbidity rates, reflecting the need for hospitalizations.

**Objective:** To identify the profile of hospitalized patients for SB in the Southeast region between 2017 and 2022.

**Methods:** This is a quantitative descriptive ecological study based on data available by the Hospital Morbidity System (SIH/SUS) on DATASUS, concerning hospitalizations for SB in the Southeast region, between 2017 and 2022, using the variables: year of processing, federative unit, sex, age group 1 and ethnicity. Microsoft Excel version 2010 was used for data analysis.

**Results:** Between January 2017 and December 2022, 2,097 hospitalizations for SB were registered in the Southeast region, with 62.42% in São Paulo (SP). There was a slight predominance of females (51.02%), maintaining the expected ratio of 1:1 between the genders. As for age group, children under 1 year of age (1,679) stand out, with 86.4% of Espírito Santo's (ES) cases at this age. Such age hegemony ratifies the first days of a child's life as the ideal period for treatment, thus demanding hospitalization. Regarding ethnicity, there was a prevalence of White people (46.49%), especially in SP (63.33% of this state's hospitalizations, representing 85.02% of all White patients), while Brown people prevailed in the other states. However, in Rio de Janeiro (RJ), 43.12% of the patients did not identify with any ethnicity. Finally, one can notice the lack of significant impact of the pandemic period on hospitalizations for SB in the Southeast region.

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

<footnote n="1">¹Universidade Estadual do Sudoeste da Bahia, Vitória da Conquista BA, Brazil.</footnote>
**Conclusion:** The analyzed data reveal that most hospitalizations for SB in the Southeast region occurred in SP, with a majority of White children under 1 year of age, with a predominance of this age group in ES. Gender and the COVID-19 pandemic had negligible influence on the profile. Further studies may clarify the possible relationship of age and ethnicity with hospitalizations for SB in children. In addition, the present study analyzed only one Brazilian region, which limits the inference of similar findings in different regions, therefore requiring national studies or studies in other regions regarding the epidemiological profile of hospitalizations for SB.

ID: 679

Area: Neuroinfections

Presentation method: Presentation
Poster

Peripheral facial paralysis in a liver transplant patient with
Epstein-Barr virus infection

Hugo Leonardo Justo Horácio¹*, Lygia Ohlweiler¹, Renata
Yasmin Cardoso Sousa¹, Olívia Sorato Bezerra¹, Gabriel De Lellis
Neto¹, Danielle Dutra Araújo¹, Aline da Costa Lourenço¹,
Josemar Marchezan¹

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

*Correspondence: hl.justo@yahoo.com.

Abstract

**Case Presentation:** A.S.S., female, 1 year old, liver transplanted for cirrhosis secondary to biliary atresia. History of Epstein-Barr virus infection. During hospitalization, the assistant team observed right peripheral facial paralysis, then prescribed acyclovir and prednisolone for 5 days, empirically, without resolution of the condition. A gradual decrease in immunosuppression was chosen according to tolerance. On neurological examination, the patient was in good general condition, clinical condition compatible with right peripheral facial paralysis, she kept the cervical region preferably flexed to the right, managed to close the eyes, but did not show resistance to passive opening of the eyelid. Cranial magnetic resonance imaging showed thickening and contrast enhancement inside the internal auditory canal and right cerebellar pontine angle, as well as in the trigeminal nerve on this side, nonspecific. Examination of the cerebrospinal fluid showed: leukocytes 4/µL, erythrocytes 1/µL, total protein 19 mg/dL, lactate 1.47 mmol/L, glucose 60 mg/dL, absence of bacterial growth, negative fungal and mycobacterial culture, VDRL non-reactive and Epstein-Barr (EBV) positive.

**Discussion:** Peripheral facial palsy due to EBV in immunosuppressed children is infrequent. In the reported case, the imaging exam suggested an inflammatory process compatible with the clinical picture and the agent was identified by PCR in the cerebrospinal fluid. Although the treatment of choice in immunosuppressed patients is rituximab, we decided not to start it due to the low viral load. With the increase in viral load, treatment with rituximab was started and 1 month after the start of treatment, the viral load evolved with a decrease and the control neuroimaging no longer showed alterations.

**Final Comments:** In patients undergoing solid organ or hematopoietic cell transplantation, exposure to EBV can be avoided by selecting donors without EBV contamination; However, this is not always possible. Thus, patients are typically monitored for EBV infection, and strategies to

reduce the risk of post-transplant lymphoproliferative disease are implemented if EBV viremia is detected.

ID: 680

Area: Neurogenetics

Presentation method: Presentation
Poster

Phelan-McDermid syndrome in a patient with chromosome
22 trissomy: a case report

Ana Clarice Bartosievicz Prestes¹*, Jose Antonio Coba Lacle¹,
Mariane Wehmuth Furlan Eulalio¹, Isadora Cristina Barbosa
Lopes¹, Flavia Caon Barão de Oliveira¹

¹Hospital Universitário Evangélico Mackenzie, Curitiba PR, Brazil.

*Correspondence: anaclariceprestes@gmail.com.

Abstract

**Case Presentation:** Female patient, mother had 6 prenatal visits in high obstetric risk due to maternal hypothyroidism and gestational diabetes mellitus being treated with diet. Multiple malformations were identified in obstetric ultrasound sounds, including reduced measurements of the lateral ventricles in the cephalic pole, dilated 3rd ventricle and atypical corpus callosum suggesting dysgenesis. Cardiac area slightly increased in volume with impression of CIV, azygos vein dilation, suggesting alteration in systemic venous drainage. Left kidney not visualized. Right kidney with reduced dimensions and loss of corticomedullary differentiation. Fetal echocardiogram confirmed CIV. Normal birth without complications. APGAR 8/9. At physical examination: microphthalmia, ocular hypertelorism, epicanthus, oblique ocular fissure, short lingual frenulum, micrognathia, low ear implantation, mammary hypertelorism, preauricular pits, typical female genitalia with prominent labia minora. Abdominal ultrasound showed uncharacterized spleen, right kidney agenesis, left kidney with diffuse parenchymal nephropathy. Karyotype was collected, showing trisomy of chromosome 22 with a deletion on the long arm. 47, XX, +del(22)(q13). A significant alteration in auditory function was identified in an examination of auditory evoked potentials of the brainstem. Patient still continue in multidisciplinary outpatient follow-up with significant delay in neuropsychomotor development and dysphagia.

**Discussion:** Trisomy 22 syndrome and Phelan-McDermid syndrome are both rare genetic disorders with very low incidence. The most common symptoms of this syndrome include intellectual disability, neurodevelopmental delay, growth deficiency, and malformations of the heart and other organs. However, the severity of the symptoms can vary widely among affected individuals. Phelan-McDermid syndrome, on the other hand, is caused by a deletion or mutation in the SHANK3 gene on chromosome 22. This disorder is also characterized by intellectual disability and developmental delay, as well as delayed or absent speech, low muscle tone, and autism spectrum disorder. Some affected individuals may also experience seizures and other neurological symptoms.

**Final Comments:** While both Trisomy 22 syndrome and Phelan-McDermid syndrome are rare diseases, there have been no reported cases in the literature of an individual with both syndromes, like our patient.
ID: 681

Area: Epilepsies

Presentation method: Eletronic Poster

Early onset developmental and epileptic encephalopathy
linked to monogenic ALG13 mutation: an important
differential diagnosis in refractory West syndrome – a case
report

Bárbara Maini de Carvalho<fnref n="1" />*, Juliana Greghi Hernandez<fnref n="1" />, Allana Kristina Borges Costa<fnref n="1" />, Amanda Sousa Ribeiro<fnref n="1" />, Hana Andrade de Rider Brito<fnref n="1" />, Daniele Ferreira Rocha<fnref n="1" />, Rafael Guerra Cintra<fnref n="1" />, Daniela Fontes Bezerra<fnref n="1" />, Rubens Wajnsztejn<fnref n="1" />

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

*Correspondence: barbaramaini@outlook.com.

Abstract

**Case Presentation:** A 3-years-old female patient developed epileptic spasms and global hypotonia beginning at three months of age, associated with loss of development markers, like social smiling and cephalic support. She was born at term, without any relevant prenatal or obstetric comorbidities. Her familial history was unremarkable. Her electroencephalogram showed a hypsarrhythmia pattern with no abnormalities in the brain. MRI and metabolic screening. She was diagnosed with West Syndrome and started Vigabatrin therapy, with no clinical response, two cycles of ACTH and oral corticotherapy with partial improvement. Due to the lack of clinical improvement, an exome was requested, which identified an ALG13 pathogenic variant. She evolved with severe global developmental delay and drug resistant epilepsy. She remains with partial seizure control with optimized anti-seizure therapy, associated with ketogenic diet.

**Discussion:** Epileptic encephalopathy is a condition in which the epileptic activity itself contributes to cognitive and behavioral impairment beyond that expected from the pathology alone. However, the abnormal development may not be due to seizures and interictal epileptiform abnormalities alone but arises as a direct consequence of the underlying etiology, thus also configuring a developmental encephalopathy. The differential diagnosis of developmental and epileptic encephalopathy is wide, and involves congenital disorders of glycosylation (CDG), like our case. The CDG are a group of metabolic disorders that can present with a broad and nonspecific spectrum of clinical symptoms. One such type is ALG13-CDG (Asparagine 13-linked glycosylation deficiency). Pathogenic variants in ALG13 cause a congenital disorder in which individuals exhibit variable clinical phenotypes that include developmental delay, intellectual disability and infantile spasms, characterizing a form of developmental encephalopathy and early infantile epilepsy. Another important aspect to note is that, in the face of a picture of intractable infantile spasms, the ketogenic diet, is increasingly described as beneficial, with a substantial reduction in the number and severity of crises, realized in the case described.

**Final Comments:** We present a rare case of a genetic developmental and epileptic encephalopathy linked to asparagine 13-linked glycosylation deficiency (ALG13). This case highlights the importance of extending the differential diagnosis in cases of refractory West Syndrome and developmental and epileptic encephalopathy.

ID: 682

Area: Neurological manifestations of
systemic diseases

Presentation method: Eletronic Poster

Axonal pattern polyneuropathy due to vitamin b12
deficiency: a case report

Isadora de Castro Leite Alcantara<fnref n="1" />,<fnref n="2" />,<fnref n="3" />*, Ramon Nunes Santos<fnref n="1" />,<fnref n="2" />,<fnref n="3" />, Filipe Thalys Sousa Campos<fnref n="1" />,<fnref n="2" />,<fnref n="3" />, Matheus Rodrigues Correa<fnref n="1" />,<fnref n="2" />,<fnref n="3" />, Maria Gabriela Cavalcante Leal<fnref n="1" />,<fnref n="2" />,<fnref n="3" />, João Guilherme Campelo Brandim de Sa Lopes<fnref n="1" />,<fnref n="2" />,<fnref n="3" />, Artur Moraes de Sousa Ribeiro<fnref n="1" />,<fnref n="2" />,<fnref n="3" />, Angelica Maria Assunção da Ponte Lopes<fnref n="1" />,<fnref n="2" />,<fnref n="3" />, Juliano Coimbra Uchoa Leitao<fnref n="1" />,<fnref n="2" />,<fnref n="3" />

*Correspondence: alcantaraisadorac@gmail.com.

Abstract

**Case Presentation:** A 10-year-old female patient, overweight, with a history of ankle pain and paresthesia that progressed in weeks to lower limb weakness, followed by loss of sphincter control and motor ataxia. The mother reported a diet poor in meat and vegetables and an association of symptom onset with flu-like syndrome and gastroenteritis. Examination revealed flag sign in hair, grade I muscular strength in lower limbs, grade 1 patellar reflex, grade 3 Achilles reflex with clonus, hyperalgesia in all four extremities, preserved thermal sensitivity but absent vibratory and kinesthetic-postural sensitivity in both lower limbs, dysmetria in the index finger to nose test, and rebound horizontal nystagmus, stiffness in the neck and absence of Brudzinski and Kernig signs. Cerebrospinal fluid analysis was normal. Electroneuromyography: axonal pattern polyneuropathy with marked impairment in the sensory component and moderate to severe impairment in the motor component in the lower limbs. Laboratory: pancytopenia associated with reduced vitamin B12 and increased homocysteine levels. Head MRI: Diffusion restriction in the radiate crowns of the brain suggesting an inflammatory or demyelinating etiology. Thoracic and lumbar spine MRI: T2 hyperintensity in the posterior and median central portion of all segments of the thoracic spinal cord to the conus medullaris at the lumbar level. IM vitamin B12 replacement was indicated at a dose of 1000 mcg/day for 7 days. The patient's lower limb strength improved, but vibratory sensitivity remained absent. She was discharged from the hospital to receive weekly IM vitamin B12 replacement for 2 months and outpatient follow-up.

**Discussion:** Polyneuropathy can occur due to myelin dysfunction, compromise of the vasa nervorum or axonopathy. The main cause of demyelinating disorders is a parainfectious autoimmune process. In vasa nervorum involvement, ischemia due to atherosclerosis, vasculitis or hypercoagulable states can be the main cause. Axonal pattern polyneuropathy is usually due to toxic-metabolic causes, like diabetes mellitus, chronic renal failure, adverse effects of chemotherapy and nutritional deficiencies, including vitamin B12 deficiency.

**Final Comments:** Low levels of vitamin B12 can lead to an accumulation of methylmalonic acid, which leads to degeneration of the lateral and posterior portions of the spinal cord. This may explain the patient's neurological findings.

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

<footnote n="2">²Instituto de Doenças Tropicais Natan Portella, Teresina PI, Brazil.</footnote>

<footnote n="3">³Universidade Federal do Piauí, Teresina PI, Brazil.</footnote>
ID: 683

Area: Neurogenetics

Presentation method: Presentation
Poster

Dysmorphic features, macrocephaly, intellectual disability
and congenital heart defect due to TAF1 variant

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

Abstract

**Case Presentation:** The patient was the second child of healthy non-consanguineous parents. He was full-term, born in a cesarean birth due to congenital pulmonary valve stenosis. At birth, polydactyly and hydronephrosis were also noticed. He evolved with global development delay and severe oral-pharyngeal dysphagia. At the age of 4 years old, he developed focal seizures. His neurological examination showed axial hypotonia with appendicular mild hypertonia and tendon reflex were 3+/4 globally. He also presented with macrocephaly and facial dysmorphism such as downslanted palpebral fissures, high palate, low-set ears, pointed chin and long face. His MRI showed incomplete wide sylvian fissures and corpus callosum agenesis. His karyotype showed no alterations. Due to these findings, an exome was performed and a pathogenic variant c.4315C>G;p.(Leu1439Val) was described in the TAF1 gene, located in the X chromosome.

**Discussion:** TAF1 intellectual disability (ID) syndrome is caused by pathogenic variants in the X-linked gene TATA-box binding protein associated factor 1 (TAF1), which is involved in RNA polymerase II transcription. All variants reported to date are missense variants since TAF1 is known as a very constrained human gene because of its essential role in normal cellular functioning. It is suggested that the complete loss of TAF1 in hemi or homozygous loss-of-function variants may cause embryonic lethality. Main features are global developmental delay, ID, dysmorphic features, and neurological abnormalities. Characteristic dysmorphology includes: a long face, a high palate, a pointed chin, anteverted nares, prominent supraorbital ridges, down-slanted palpebral fissures, sagging cheeks, long philtrum and low-set and protruding ears - but facial gestalt is not highly specific to a recognizable pattern. Because of considerable pleiotropy and phenotypic variability, features such as brain morphological abnormalities, seizures and heart malformations have been reported. Some studies have suggested that TAF1 also plays an important role in early cardiac and cortical development.

**Final Comments:** Throughout this data, we aim to raise awareness to this genotype-phenotype and recommend that TAF1 ID should be considered in male patients presenting with global developmental delay or ID, corpus callosum abnormalities, dysmorphic typical features and congenital heart defects. TAF1 ID is usually associated with microcephaly, but our case describes macrocephaly as a novel feature to this syndrome.

ID: 684

Area: Neurological manifestations of
systemic diseases

Presentation method: Presentation
Poster

Intracranial hypertension associated with prolonged use of fluoroquinolones: case report

Ana Maria Paez Gonzalez<fnref n="1" />, Jose Antonio Coba Lacle<fnref n="1" />, Ana Clarice Bartosievicz Prestes<fnref n="1" />, Mariane Wehmuth Furlan Eulálio<fnref n="1" />

Abstract

**Case Presentation:** Intracranial hypertension can be idiopathic or can be secondary to another disease. It is characterized by an increase in intracranial pressure due to obstruction of cerebral venous drainage or inability to reabsorb cerebrospinal fluid. A 6-year-old male patient was referred from the ophthalmology outpatient clinic due to blurred vision and strabismus, vomiting, occasional headaches and with excessive sleepiness. Ophthalmological evaluation identified slight proptosis of the right eyeball, 15° esotropia to the right in the primary gaze position, visual acuity of 20/25 without correction, bilateral papillary edema with intense vascular tortuosity in fundoscopy. The patient was under treatment for osteomyelitis in the left ankle with oral levofloxacin and cotrimoxazole. Laboratory tests and neuroimaging were normal. The diagnosis was made by lumbar puncture, with cerebrospinal fluid pressure of 42 cm/H2O. The patient's condition improved upon discontinuation of levofloxacin treatment for osteomyelitis. Intracranial hypertension secondary to fluoroquinolone use was considered, a complication that is well known for this group of antibiotics.

**Discussion:** Idiopathic intracranial hypertension is a rare disease in pediatrics but with significant risk of irreversible visual disturbances. The annual incidence is about 0.71 per 100,000 children aged 1 to 16 years, being more common in the pre-pubertal age group. In adults, it is more prevalent in obese women, which is not the case in the pediatric population. The first definition was published by Quincke in 1893, the first diagnostic criteria were described by Dandy in 1937 and updated in 1985 by Smith, where radiological imaging criteria known as modified Dandy criteria were included. In this case, the possible causal factor (levofloxacin antibiotic therapy) was discontinued, and first-line treatment with acetazolamide was initiated, resulting in complete symptom improvement and no papillary edema in the fundus of the eye.

**Final Comments:** Idiopathic intracranial hypertension is a rare disease of unknown etiology, but some cases are associated with endocrine causes, systemic diseases, and medications. Therefore, the history of previous hospitalizations and medications, along with the ophthalmological examination, is of vital importance for early diagnosis and timely treatment, avoiding possible irreversible sequelae.

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

<footnote>*Correspondence: louise.tavares@hotmail.com.</footnote>

<footnote n="1">¹Hospital Universitário Evangélico Mackenzie, Curitiba PR, Brazil.</footnote>

<footnote>*Correspondence: anaclariceprestes@gmail.com.</footnote>
ID: 685

# Area: Neuroimmunology, multiple sclerosis and other demyelinating diseases

## Presentation method: Presentation Poster

### Is it MOGAD or pediatric MS?

Stella Duarte Pinto<sup>1,2,3*</sup>, Mariana Baltazar Bartelle<sup>1,2,3</sup>, Andressa de Oliveira Felício<sup>1,2,3</sup>, Taís Michele Werle<sup>1,2,3</sup>, Eduardo da Costa Herter<sup>1,2,3</sup>, Gustavo Bangemann<sup>1,2,3</sup>, Helena Pacheco Helms<sup>1,2,3</sup>, Thaís Barroso Naves<sup>1,2,3</sup>, Bruna Klein da Costa<sup>1,2,3</sup>

### Abstract

**Case Presentation:** A previously healthy 10-year-old boy presented with subacute right upper and lower limb tremor, slurred speech and unsteady gait. Brain MRI revealed a T2 hyperintense lesion in left pons with DWI restriction and one right ovoid lesion in the cerebellar peduncle, 2 periventricular lesions, one lesion in left inferior temporal lobe, and supratentorial unspecific T2-hyperintense white matter lesions. Cerebrospinal fluid showed exclusive positive oligoclonal bands (OCBs). Serum workup revealed positive IgG for cytomegalovirus (CMV), Epstein-Baar (EBV) and positive myelin oligodendrocyte glycoprotein (MOG) antibodies through cell-based assay (1:100). He was negative for anti-aquaporin-4 (AQP4-IgG). He received intravenous methylprednisolone (IVMP) and oral steroid taper with symptom resolution. A follow-up MRI 6 months later demonstrated increased lesion volume and new hyperintense periventricular lesions. A new lumbar puncture revealed persistence of OCBs. A single dose of intravenous immunoglobulin (IVIg) 2g/kg was prescribed until rituximab was available. Rituximab was initiated at 1g every 6 months. One week after the first dose of rituximab he presented a flare of right superior limb weakness with a new frontoparietal juxtacortical brain MRI lesion with contrast enhancement. He was treated with IVMP with improvement. At 8-month follow-up he had no evidence of disease activity and no treatment adverse reactions.

**Discussion:** This patient met space and time criteria for pediatric multiple sclerosis (POMS), but also had clearly positive serum MOG-IgG antibodies with a clinical syndrome suggestive of MOGAD fulfilling criteria for MOG-IgG associated disease (MOGAD). The presence of new periventricular and juxtacortical lesions, the positivity for Epstein-Baar, and the persistence of OCBs after the acute attack favor the POMS diagnosis. However, the initial brainstem lesion and clearly positive MOG-IgG titers favor the diagnosis of MOGAD. The transient increase of antibodies was described in AQP4-IgG positive neuromyelitis optica but not in MOGAD or MS. Positivity for CMV is associated with non-POMS disease course. Considering that neither POMS nor MOGAD could be completed excluded, we chose rituximab as maintenance treatment.

**Final Comments:** MOGAD and POMS are considered different conditions and there are only anecdotal reports of patients meeting criteria for both diseases. In these rare challenging cases, anti-CD20 medications are safe treatment options.

ID: 687

# Area: Neoplasms

## Presentation method: Presentation Poster

### Malignant transformation of neurocutaneous melanosis - disseminated melanoma of the nervous system in a child: case report

Claudia Ambrosio Polloni<sup>1*</sup>, Denise Aparecida Oliveira Doria<sup>1</sup>, Bianca Sobral Bellemo<sup>1</sup>, Mariana Belem Netto<sup>1</sup>, Joaquim Pinheiro Vieira Filho<sup>1</sup>, Carlos Augusto Takeuchi<sup>1</sup>, Paula Diniz Santos Moreira<sup>1</sup>

### Abstract

**Case Presentation:** M.C.R., Child male, 3 years old, with a history of posterior fossa malformation and delayed speech. At birth, he presented with 10 hyperchromic patches on the body, some with hair, without prior biopsy. He began to show irritability, headache, vomiting, and strabismus. A computed tomography scan revealed compression of the ventricular system. He underwent arachnoid cyst drainage and ventriculoperitoneal shunt. One month later, he developed epileptic seizures, drowsiness, worsening speech, and right hemiparesis. Cranial and neuro-axis magnetic resonance imaging, cerebrospinal fluid and Immunohistochemistry indicated neurocutaneous melanosis (NCM) with malignant degeneration and infiltration by melanoma cells. Due to the severity of the case and the patient's age, it was decided to postpone biopsy and radiotherapy and initiate immunotherapy for metastatic melanoma with nivolumab and ipilimumab for 4 cycles. Despite therapeutic attempts, the disease followed a rapidly progressive and lethal course, disseminating throughout the nervous system, coma and brain death 3 months after.

**Discussion:** Neurocutaneous melanosis is a rare, non-hereditary congenital syndrome characterized by congenital melanocytic nevi and meningeal melanosis or melanoma in the central nervous system. It usually manifests before the age of five and exhibits phenotypic variability. 60-70% of individuals experience seizures, hydrocephalus, developmental delay, psychiatric disorders, cranial nerve paralysis, and intracranial hemorrhage. Malignant transformation occurs in 40-60% of cases. In many cases, it is challenging to differentiate when this transformation occurs. Cerebrospinal fluid analysis shows pleocytosis, hyperproteinorrachia, and melanin cells. Brain and/or spinal magnetic resonance imaging reveals extensive leptomeningeal infiltration; the paramagnetic behavior of melanin, hyperintense in T1, suggests the diagnosis of NCM. The presence of nodular mass or plaque-like thickening, contrast enhancement, and perilesional edema predict melanoma. Currently, there are no standardized treatments for childhood cases; the proposed treatment in this case was based on the adult melanoma protocol since melanoma is rare in pediatrics. Therapeutic benefits are limited, and survival is reduced.

**Final Comments:** NCM requires early suspicion and frequent patient evaluations to improve prognosis and detect malignancy. Meningeal biopsy may have diagnostic and therapeutic value, identifying genetic targets for more precise treatment.

<footnote n="1"><sup>1</sup>Pontifícia Universidade Católica do Rio Grande do Sul, Hospital São Lucas, Porto Alegre RS, Brazil.</footnote>

<footnote n="2"><sup>2</sup>Pontifícia Universidade Católica do Rio Grande do Sul, Porto Alegre RS, Grande do Sul - Brasil.</footnote>

<footnote n="3"><sup>3</sup>Santa Casa de Misericórdia de Porto Alegre, Porto Alegre RS, Brazil.</footnote>

<footnote>*Correspondence: stella.pinto@edu.pucrs.br.</footnote>

<footnote n="1"><sup>1</sup>Hospital Infantil Sabará, São Paulo SP, Brazil.</footnote>

<footnote>*Correspondence: claupolloni@gmail.com.</footnote>
ID: 688

Area: Neuroinfections

Presentation method: Eletronic Poster

An atypical presentation of neurotuberculosis vasculitis mimicking visceral leishmaniasis

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

Abstract

Case Presentation: We present a case of an eight-year-old boy who was previously healthy and was evaluated for a three-month history of daily fever and weakness. Upon physical examination, he exhibited hepatosplenomegaly, and his laboratory results revealed a low platelet count (108,000/microL), anemia (hemoglobin - 9,6 g/dL), and elevated C-reactive protein (30.04 mg/L). Notably, two weeks prior to the onset of his symptoms, he had traveled to Sobral-Ceará, an endemic area for visceral leishmaniasis (VL). He was admitted to the Pediatrics Ward for further investigation of possible VL. However, during his evaluation, he suddenly developed rightsided hemiparesis and lost consciousness, without any preceding headaches or other neurological symptoms. A computed tomography (CT) scan of his head was unremarkable, but his cerebrospinal fluid (CSF) analysis showed elevated white blood cell count (380 cells, 86% neutrophils), elevated lactate levels (51.36 mg/dL), and reduced glucose levels (29 mg/dL - 88 mg/dL serum). The Xpert MTB/RIF Assay - GeneXpert® test yielded positive results for Mycobacterium tuberculosis, despite negative results for mycobacterial cultures. Further screening revealed a typical pattern of miliary pulmonary tuberculosis (TB) on a chest CT scan. The patient was started on TB treatment and follow-up brain magnetic resonance imaging (MRI) revealed infarct areas in T2/FLAIR in regions supplied by the left middle cerebral artery, with accompanying leptomeningeal enhancement.

Discussion: This atypical case of neurotuberculosis presents several interesting points for discussion. Firstly, the patient did not exhibit typical pulmonary symptoms and initially showed symptoms suggestive of another infectious disease, leading to investigation for VL which was negative. Additionally, he had no known contact with individuals diagnosed with TB, had received TB vaccination, and had no prior history of recurrent infections. However, the Genexpert test, though less sensitive for CSF analysis, played a crucial role in early diagnosis and prompt initiation of treatment.

Final Comments: This case report highlights the diverse clinical manifestations of TB and emphasizes the need to consider TB in the context of persistent fever in Brazil, even in the absence of pulmonary symptoms. Early recognition and treatment are crucial in preventing complications of the disease, underscoring the importance of timely diagnosis.

ID: 689

Area: Others

Presentation method: Eletronic Poster

Perception of transition from pediatric to adult health care in patients with epilepsy and its comorbidities: an experience report

Barbara Maini de Carvalho<fnref n="1" />*, Allana Kristina Borges Costa<fnref n="1" />, Amanda Sousa Ribeiro<fnref n="1" />, Hana Andrade de Raider Brito<fnref n="1" />, Daniele Ferreira Rocha<fnref n="1" />, Juliana Greghi Hernandez<fnref n="1" />, Ruda Alessi<fnref n="1" />, Daniela Fontes Bezerra<fnref n="1" />, Rubens Wajnsztejn<fnref n="1" />

Abstract

Background: Epilepsy is a heterogeneous group of neurological conditions that affects children and adults. Each patient needs unique transitions from childhood to adult care. Transition is the planned process of transferring patients with epilepsy of childhood onset to adult care. An unsuccessful transition can result in high rates of follow up loss, poor adherence to treatment, and poor outcomes ranging from disease reactivation to death. Epilepsy is a condition that tends to affect children more than other chronic diseases, with comorbidities like psychosocial consequences that can be more limiting than the epileptic seizures themselves. In this context, we show our work in transitioning young patients with epilepsy and its comorbidities, aiming to invest in the well-being and autonomy of children and their families as a focus of engagement.

Objective: To identify and understand the difficulties experienced by patients with epilepsy in the transition process, their autonomy, as well as to learn more about their views and opinions on the subject.

Methods: In 2019 to 2023, we applied a structured and validated questionnaire to 31 adolescents aged 12 to 18 years, with 55 questions, including questions about the epileptic syndrome, their understanding of the disease, autonomy and main comorbidities.

Results: 31 patients answered the questionnaires, and all were screened for inclusion and exclusion criteria. Of these, we found a large clinical heterogeneity, with most patients not understanding the type of epilepsy (63%) and 53% unaware of their current health status. The most common comorbidities were anxiety (46%), ADHD (attention deficit hyperactivity disorder) (33%), depression (6%) and OCD (oppositional defiant disorder) (3%). Furthermore, 45% of them do not participate in their health care, and 87% have no career plan and cannot analyze the impact of the disease on their future.

Conclusion: In the pediatric population, epilepsy, as a condition with great neurological impact, is associated with numerous comorbidities and psychosocial obstacles, which put their physical, psychological, and cognitive development at risk. Our study highlights the importance of identifying the environmental, social, economic, and developmental influences that make each patient and family unique, contributing to differences in the quality of health in the adolescent population and so, creating a better transition of care, which can help with future guidelines and policies around the subject.

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

<footnote>*Correspondence: pedrobarbosa3600@gmail.com.</footnote>

<footnote n="1">¹Centro Universitário Faculdade de Medicina do ABC, Santo André SP, Brazil.</footnote>

<footnote>*Correspondence: barbaramaini@outlook.com.</footnote>
ID: 690

# Area: Neuroimmunology, multiple sclerosis and other demyelinating diseases

## Presentation method: Eletronic Poster

### Atypical Guillain-Barré syndrome

Kerilyn Brenda Mewes¹, Ana Clarice Bartosievicz Prestes¹, Mariane Wehmuth Furlan Eulalio¹, Jose Antonio Coba Lacle¹, Tannya Rosalia Esquivel Valencia¹

¹Hospital Universitário Evangélico Mackenzie, Curitiba PR, Brazil.

*Correspondence: kerilynbmewes@gmail.com.

### Abstract

**Case Presentation:** An 8-year-old patient presented with a 15-day course of muscle weakness and pain, preceded by upper respiratory tract infection. Initially, he complained of hand paresthesia, and later, loss of strength in the wrists, forearms and arms. No decrease in sensitivity of upper and lower limbs at all times. No recent vaccination history. Brain MRI was normal. Neurological physical examination with negative meningeal signs, preserved gait and significant decrease in strength in upper limbs, impossibility of moving the hands, strength grade 3 proximal and grade 4 distal. Little reduction in lower limb's strength. Normal reflexes. Neuraxial MRI showed a T2 hypersignal of the ventral horns of the spinal cord in its distal aspect next to the conus medullaris at the level D11-12. CSF showed protein-cytologic dissociation. Established diagnosis of Guillain-Barré syndrome with atypical presentation. Treatment with human-Immunoglobulin 2g/kg. After treatment there was a noticeable improvement in muscle strength and upper limb movements. Patient referred to the neuropediatric outpatient clinic and motor physiotherapy after discharge.

**Discussion:** GBS has an Incidence of about 100.000 new patients every year worldwide. It's an immune-mediated, heterogeneous peripheral neuropathy syndrome with several variants. Is often precipitated by infection; Campylobacter jejuni, CMV, EBV, HIV, Zika virus, and Influenza-A. Symptoms start with numbness or paresthesia in the hands and feet, then a heavy, weak feeling in the legs. Weakness ascends typically reaching maximal severity within four weeks from symptom onset. Most patients generally require hospitalization for treatment, with close cardiopulmonary monitoring performed. This case report is a valuable contribution to GBS literature as it highlights an unusual presentation of the condition in an 8-year-old patient. GBS is a severe and rare neurological disorder that can lead to respiratory failure and paralysis by affecting the peripheral nervous system. The case underscores the importance of considering GBS in patients experiencing muscle weakness and paresthesia, even in the absence of typical symptoms like reduced sensitivity and gait disturbance.

**Final Comments:** The patient's muscle weakness only in the upper limbs, along with an uncommon T2 hypersignal in the distal aspect of the spinal cord's ventral horns, is noteworthy. The diagnosis of GBS is further supported by protein-cytologic dissociation in CSF.

ID: 691

# Area: Neuroimmunology, multiple sclerosis and other demyelinating diseases

## Presentation method: Eletronic Poster

### Neuromyelitis optica post-vaccination of COVID-19 in pediatrics: a case report

Victoria Faustino Silva Reis¹,², Murilo Lopes Coelho¹,², Samantha Lopes Oliveira¹,², Gabriel Vianna Pereira Aragão¹,², Camilo Vieira Santos¹,²

¹Escola Bahiana de Medicina e Saúde Pública, Salvador BA, Brazil.

²Hospital Martagão Gesteira, Salvador BA, Brazil.

*Correspondence: victoriareis20.2@bahiana.edu.br.

### Abstract

**Case Presentation:** S.V.S, female, 14 years old, reports that in December 2021, 7 days after being vaccinated for Covid-19 (Pfizer), she developed axial and lower limb weakness, progressing to paraplegia, in addition to altered sensitivity, pain in the cervical, visual disturbs and sphincter dysfunction. In the liquor, she presented serologies for Toxoplasmosis, Cysticercosis, Schistosomiasis, HTLV I and II, VDRL, FTA ABS negatives and Aquaporin reagent antibody. The MRI of the skull revealed bilateral and symmetrical frontotemporoparietoinsular white matter signal alteration and the MRI of the spine revealed thickening and signal alteration in the central portion of the cervicodorsal spinal cord, C3-D10, suggesting inflammatory nature (myelitis). Given the clinical picture and findings in complementary exams, the diagnosis of Neuromyelitis optica was made, treating initially with pulse therapy for 5 days, followed by the administration of azathioprine, medication with which the patient had an allergic reaction, being replaced by rituximab.

**Discussion:** Faced with the high transmissibility of the Sars-CoV-2 virus, scientists have joined forces to create a vaccine against the pathogen to contain the progression of the disease. Following the mass vaccination protocols, there has been an increase in reports of inflammatory CNS diseases, which are considered rare especially in the pediatric group. In this context, Neuromyelitis optica (NMO) is an autoimmune demyelinating disease that damage the optic nerves and spinal cord with the prevalence of 0.5 to 1/105 mainly at females. With that said, the average interval between neurological complications after vaccination varies according to the type of pathogen inoculated.

**Final Comments:** Vaccination comprises a series of important actions to stop mass contamination of the population. However, it is essential to clarify the possible side effects of immunization administration, such as demyelinating and autoimmune diseases. Therefore, doctors should be aware of the pros and cons of vaccination and should know how to recognize the signs and symptoms as well as the treatment of NMO. Furthermore, as the clinical course of NMO is recurrent, it is important to observe how vaccination works in patients with a definite diagnosis
ID: 692

Area: Others

Presentation method: Eletronic Poster

**Aseptic conjunctivitis secondary to risperidone: case report**

Juliana Dos Santos Cristovão<fnref n="1" />,<fnref n="2" />, Valkiria Kohlrausch Vidal Araujo<fnref n="1" />,<fnref n="2" />, Raphael Rocha Gomes Urbano<fnref n="1" />,<fnref n="2" />, Ada Maria Farias Sousa Borges<fnref n="1" />,<fnref n="2" />

**Abstract**

**Case Presentation:** This is a report of a 6-and-a-half-year-old child, with a diagnosis of Autistic Spectrum Disorder (ASD) support level 2 and ADHD (Attention Deficit Hyperactivity Disorder) as comorbidity. Pharmacological therapy with risperidone was initiated, with a gradual increase in dose up to 1.25 mL/day, divided into 2 doses, with significant improvement in aggressiveness, agitation, and impulsiveness, as well as evident gains in verbal communication. About 90 days after starting the drug, the mother reported increased appetite, abundant hyaline nasal discharge, and the presence of thick, yellowish eye discharge and red-eye syndrome. In ophthalmologic evaluation, the patient was refractory to the use of antiallergic medication, antibiotics, and lubricants. Due to the persistence of signs and symptoms, a gradual reduction of risperidone was chosen; however, the resolution of ocular complaints was only after the total suspension of the drug. Aripiprazole was subsequently started.

**Discussion:** Risperidone is an atypical antipsychotic that has a high affinity for serotonin and dopamine receptors. Among the many situations in which this drug can be administered, it includes the treatment of irritability and aggressiveness associated with ASD. Although safe in the pediatric age group, the drug is not free of side effects. In the case described, the rare manifestation observed was aseptic conjunctivitis, and discontinuation was chosen due to refractory ocular hypersecretion.

**Final Comments:** It is necessary that individuals undergoing pharmacological therapy with antipsychotics have continuous and longitudinal monitoring. Although the drug chosen is safe for use in pediatric patients, its use is not free of negative and unusual side effects, such as aseptic conjunctivitis. Knowing the indications and complications related to risperidone is important for the safety and clinical management of cases.

ID: 693

Area: Inborn errors of metabolism

Presentation method: Eletronic Poster

**Nonketotic hyperglycinemia: a case report**

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

**Abstract**

**Case Presentation:** A 2-month-old infant, born by c-section, 38 weeks, was diagnosed intrauterine with congenital clubfoot. He presented with episodes of drowsiness since birth and had an episode of bronchoaspiration, where he was referred to a referral hospital. He was diagnosed with grade I pulmonary hypertension and remained on mechanical ventilation for 13 days and non-invasive ventilation for 9 days. After mechanical ventilation was discontinued, irritability, continued somnolence, and myoclonic spasms were observed. He was again hospitalized, where oral automatisms were observed, and he was introduced to phenobarbital. A treatable disease panel was taken, which showed intragenic deletion of exons 1 to 2 in heterozygosity in the GLDC gene. He was introduced to sodium benzoate and L carnitine at two months of age and was referred to this service for follow-up with nutrology. In his first visit, difficult to control seizures were evidenced, and he was admitted for evaluation and management with neurology. On physical exam, he presented significant irritability, axial hypotonia with appendicular hypertonia, hyperreflexia, oral automatisms associated with upward ocular version events, and myoclonias. He is currently taking Levetiracetam, Clonazepam, Phenobarbital, and Topiramate, with an improvement in the seizure pattern, but without control.

**Discussion:** Nonketotic hyperglycinemia is characterized by an inborn error of metabolism that manifests itself by seizures that are difficult to control due to the lack of an enzyme that catalyzes the conversion of glycine into carbon dioxide and ammonia in the liver and brain. The mutations occur frequently in the GLDC and AMT genes and are responsible for severe neurological symptoms such as intractable epilepsy, delayed neuropsychomotor development, and hypotonia. This patient did not need a glycine test to confirm the disease because he had already undergone a genetic test, which confirmed the diagnosis. The prognosis of the disease is poor, and the use of sodium benzoate has a positive effect on the treatment by reducing the levels of glycine in the blood. The use of L carnitine occurs because of the frequent deficiency of it, caused by the therapy with sodium benzoate.

**Final Comments:** Thus, greater investment is needed in formulations accessible to the population for the treatment of a disease that is difficult to control and manage, as well as multidisciplinary monitoring of patients to prevent complications related to the disease.

ID: 694

Area: Neuropsychiatric disorders and
learning disorders

Presentation method: Presentation
Poster

**Impact of somatic disorders on the emotional and social
development of children: a narrative literature review**

Ana Paula Rodrigues Castro<fnref n="1" />*, Isabela Rocha Lacerda Oliveira<fnref n="1" />

**Abstract**

**Background:** Somatic disorders in children are conditions in which a child presents physical symptoms or complaints that are not fully explained by any underlying medical condition. These symptoms may include pain, fatigue, nausea, dizziness, and various other bodily sensations. These disorders can be burdensome and can interfere with daily functioning and also the child's quality of life. Some examples of somatic disorders

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

<footnote n="2">²Centro Universitário do Planalto Central Apparecido dos Santos, Brasília DF, Brazil.</footnote>

<footnote>*Correspondence: valkiria2002@hotmail.com.</footnote>

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

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

<footnote n="1">¹Faculdade Santo Agostinho/Afya Educacional, Vitória da Conquista BA, Brazil.</footnote>

<footnote>*Correspondence: anapaula-castro15@hotmail.com.</footnote>
in childhood include conversion disorder, functional abdominal pain, and somatic symptom disorder. Somatization is present when psychological or emotional distress manifests in the form of physical symptoms that otherwise have no medical explanation. Treatment usually involves a multidisciplinary approach that addresses both the physical and psychological aspects of the condition.

**Objective:** To analyze the different types of somatic disorders that can affect the emotional and social development of children and how they may manifest.

**Methods:** A literature search was conducted to gather articles on the proposed topic. Articles were consulted in the PubMed, SciELO, and Lilacs databases. The search was performed by crossing the following descriptors: "somatics," "disorders," "children," "emotional," and "development." Articles written in English, Portuguese, and Spanish published in the last 10 years were used. Books that address the topic and could contribute to the construction of this review were also used.

**Results:** There are many studies that show that children who suffer from somatic disorders, such as functional abdominal pain, migraines, asthma, and allergies, may present significant emotional and social problems. For example, a study published in the "Journal of Pediatrics" in 2020 indicates that the prevalence of anxiety was 14.4% among children with chronic illnesses, compared to 5.7% among healthy children."

**Conclusion:** Somatic disorders have a significant impact on the emotional and social development of children. Children with somatic disorders are at higher risk of emotional problems such as anxiety and depression, as well as difficulties with socialization and low self-esteem. It is important for parents, caregivers, and healthcare professionals to be aware of these risks and work together to provide a supportive environment for children with somatic disorders.

ID: 695

**Area: Neuromuscular diseases**

**Presentation method: Presentation Poster**

**Pulmonary function in patients with Duchenne muscular dystrophy from the stride registry and CINRG natural history study: a matched cohort analysis**

Már Tulinius, Ana Paula Carneiro, Daiana Suelen Machado, Andressa Federhen, Craig M. Mcdonald

*Correspondence: adossantos@ptcbio.com.br.

**Abstract**

We investigated if nonsense mutation Duchenne muscular dystrophy (nmDMD) patients receiving ataluren plus standard of care (SoC) in the Strategic Targeting of Registries and International Database of Excellence (STRIDE) Registry (NCT02369731) experienced a lesser decline in pulmonary function versus DMD patients receiving SoC alone in the Cooperative International Neuromuscular Research Group (CINRG) Natural History Study (NCT00468832). STRIDE is an ongoing, multicenter, observational registry providing data on ataluren use in nmDMD patients in routine clinical practice. Data were extracted on January 31, 2022. Propensity score matching identified STRIDE and CINRG patient cohorts (N=260) comparable in established predictors of disease progression: age at first symptoms; age at initiation of corticosteroid use; duration of deflazacort use; and duration of other corticosteroid use. Patients from CINRG who had received investigational drugs for DMD were excluded from

this analysis. Kaplan-Meier analyses were used to estimate ages at %- predicted forced vital capacity (FVC) <60% and <30%. The mean (standard deviation) ages at onset of first symptoms (STRIDE vs CINRG; N=260 per cohort) were 2.8 (1.7) and 2.8 (1.5) years, respectively. Most patients (STRIDE vs CINRG) received corticosteroids for ≥12 months (85.0% vs 83.8%), with a similar proportion receiving deflazacort (47.7% vs 44.2%) or other corticosteroids (41.9% vs 43.5%). Median (95% confidence interval [CI]) ages at %-predicted FVC <60% (STRIDE vs CINRG) were 17.7 (16.8, not estimable) and 15.3 (14.9, 16.5) years, respectively (p=0.0053). Median (95% CI) ages at %-predicted FVC <30% (STRIDE vs CINRG) were not estimable and 22.5 (20.3, 25.4) years, respectively (p=0.0008). These interim registry data suggest that treatment with ataluren and SoC in routine clinical practice slows disease progression in pulmonary function in nmDMD patients.

ID: 696

**Area: Neuromuscular diseases**

**Presentation method: Eletronic Poster**

**Infantile malignant osteopetrosis in a patient with waist limb-girdle muscular dystrophy type 2C: a case report**

Bruna Cruz Borges Beyruth<sup>1,2,3</sup>, Pedro Lucas Gomes Lima<sup>1,2,3</sup>, Adriele Souza de Lima<sup>1,2,3</sup>, Evelyn Vieira da Silva<sup>1,2,3</sup>, Thais Roberta Janson Gonçalves<sup>1,2,3</sup>, Larissa Maria Paula Rebouças da Costa<sup>1,2,3</sup>, Aluildo Moura Oliveira Júnior<sup>1,2,3</sup>, Catarina Souza, Bethania Freitas Rodrigues Ribeiro<sup>1,2,3</sup>

*Correspondence: brubeyruth@hotmail.com.

**Abstract**

**Case Presentation:** Patient T.R.V.F. presented the variant c.525delT in the SGCG gene, result of genetic screening at 2 months old because of a brother with girdle dystrophy, that presented the same alteration, translating into the Limb-Girdle Muscular Dystrophy (LGMD2C). In appointment with an endocrinologist due to complaints of short stature and exams accusing anemia and thyroid stimulating hormone alteration, clinical and radiological signs of osteopetrosis were also found. A complete exome examination and another specific to osteopetrosis, investigating the CLCN7 gene, showed no alterations corresponding to the signs presented. After the medical team recommended a bone marrow transplant, a specialist found the clear signs of the disease and proceeded with the operation. Two weeks later the patient evolved with hypercalcemia, treated with 90mg disodium pamindronate. After this, his evolution registered a positive response to treatment, with 14% reduction in bone mass and an absorption rate of 700%.

**Discussion:** The LGMD is a heterogeneous group of genetic muscle diseases characterized by progressive impairment of the pelvic and scapular girdle muscles. LGMD2C constitutes the autosomal recessive form that has mutations in the gamma subunit of the sarcoglycan complex. The proximal muscle involvement manifests itself symmetrically, initially at the pelvic girdle. Patients typically have elevated serum creatine kinase levels. The pharmacological treatment aims to slow down the evolution of the disease. Support therapies, such as physiotherapy, help maintain patients' quality of life. Osteoprostosis is an autosomal recessive inherited osteopathy caused by dysfunction of the osteoclasts in reabsorbing bone matrix, which increases mineralized osteoid material.

<footnote n="1"><sup>1</sup>Centro Universitário, UNINORTE, Rio Branco AC, Brazil.</footnote>

<footnote n="2"><sup>2</sup>Hospital da Criança, SASMAC, Rio Branco AC, Brazil.</footnote>

<footnote n="3"><sup>3</sup>Universidade Federal do Acre, Rio Branco AC, Brazil.</footnote>
Clinical signs and symptoms manifest themselves through extramedullary hematopoiesis, narrowing of the cranial nerve foramen, macrocephaly, decreased height, and delayed neuropsychomotor development. Bone marrow transplantation is the most efficient therapeutic alternative.

**Final Comments:** The importance of genetic mapping is emphasized here, as well as the importance of a communicative medical team, the importance of attention to test results and clinical analysis, which allowed the early identification of a rare disease, coupled with another of the same quality.

ID: 697

Area: Epilepsies

Presentation method: Eletronic Poster

**Case report of a patient with epileptical and developmental encephalopathy and genome eviding heterozygosis in the PACS2 exon 13 gene**

Juliana Coelho Xavier<fnref n="1" />, Carla Jéssica da Silva Fernandes<fnref n="1" />*, Ezio Junio Gonçalves Nunes<fnref n="1" />, Renata Andrade Oliveira<fnref n="1" />, Stephanie Vaz Schoucair<fnref n="1" />, Sarah Ferreira Santos<fnref n="1" />, Francisco Monteiro Meneses<fnref n="1" />, Cinthya Maria Neves Varandas<fnref n="1" />, Janeusa Rita Leite Primo Chagas<fnref n="1" />

**Abstract**

**Case Presentation:** This is a female patient, 13 years old, from Salvador (BA). The child started with delayed neuropsychomotor development and at the age of 3, focal seizures started. Seizure control was attempted with several antiepileptic drugs, including phenobarbital, valproic acid, levetiracetam, carbamazepine, topiramate and clobazam, without adequate response. She is currently using lamotrigine and clonazepam, with partial seizure control. For diagnostic investigation, the patient underwent initial screening for inborn errors of metabolism (lactate dosage, venous gasometry, amino acid chromatography), which was negative. She underwent magnetic resonance imaging of the skull, showing areas of bilateral encephalomalacia in the occipital region and dysgenesis of the corpus callosum. During genetic investigation, she carried out a genome, which showed a probably pathogenic variant in heterozygosis in the PACS2 exon 13 gene. Currently, the patient is clinically stable, with partial control of epileptic seizures, still with significant cognitive impairment.

**Discussion:** Epilepsy is a common neurological disorder of childhood, sometimes associated with developmental delay/ intellectual disability. The epileptic and developmental encephalopathies are a group of severe childhood-onset epilepsies characterized by developmental delay or regression in the context of recurrent seizures. Variants in several genes have been associated with epilepsy to date, with a variety of inheritance patterns or de novo mutations. The identification of pathogenic genetic variants related to epileptic disorders continues to be important, allowing a more precise definition of the clinical diagnosis, precise genetic counseling and precise therapy in some cases.

**Final Comments:** Epileptic and developmental encephalopathies are important conditions in neurological clinical practice and can cause difficult-to-control epilepsy, developmental delay and cognitive alterations. Some of these encephalopathies have a genetic basis that has not yet been described, but which may be pathogenic variants.

ID: 699

Area: Neuropsychiatric disorders and learning disorders

Presentation method: Presentation Poster

**Resilience and vulnerability in adolescents with attention-deficit/hyperactivity disorder: a population-based study**

Renato Arruda<fnref n="1" />,<fnref n="2" />,<fnref n="3" />*, Pedro Custodio D'Amico<fnref n="1" />,<fnref n="2" />,<fnref n="3" />, Louise Marques<fnref n="1" />,<fnref n="2" />,<fnref n="3" />, Luis Anunciação, Marco Antonio Arruda<fnref n="1" />,<fnref n="2" />,<fnref n="3" />

**Abstract**

**Background:** To the best of our knowledge, no population-based study has investigated resilience resources (RR) and vulnerability risk (VR) in children and adolescents with Attention-Deficit/Hyperactivity Disorder (ADHD), hindering the development of a risk-resilience model for potential interventions.

**Objective:** Herein, RR and VR were assessed in adolescents with ADHD and controls in a cross-sectional population-based study with adolescents.

**Methods:** The Resiliency Scale for Children and Adolescents was completed by adolescents. Sociodemographic, school performance, and mental health data were obtained by validated questionnaires completed by parents and teachers. Linear models (t-tests and ANOVA) were applied to compare the RR and VR profiles between 1) ADHD vs. non-ADHD controls; and 2) adolescents with other psychosocial adjustment problems without ADHD (OPAD) vs. adolescents without psychosocial adjustment problems (typical). Welch's correction was used when necessary to calculate p-values.

**Results:** Consents and analyzable data were obtained from 339 adolescents (80.3% of the target sample), 53% females, aged 10-18 years (M=13.8, SD=2.0). DSM-5 criteria for ADHD were met by 2.9%. Adolescents with ADHD showed lower RR (p<0.001), but no significant difference in VR (p=0.073) compared to non-ADHD controls. Adolescents in the OPAD group, demonstrated lower RR (p=0.01), and higher VR (p<0.001) compared to typical. Compared to OPAD, adolescents with ADHD had a lower sense of relatedness.

**Conclusion:** Adolescents with ADHD present lower RR compared to non-ADHD peers. Adolescents with other psychosocial adjustment problems have lower RR and higher VR in relation to typical development colleagues. These original findings have immediate clinical implications, since they reveal specific profiles of resilience and vulnerability in adolescents with ADHD and other psychosocial adjustment problems, supporting novel emerging potential targets for intervention in these vulnerable groups.

<footnote n="1">¹Obras Sociais Irmã Dulce, Salvador BA, Brazil.</footnote>

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

<footnote n="1">¹Centro Universitário de Votuporanga, Votuporanga SP, Brazil.</footnote>

<footnote n="2">²Instituto Glia, Ribeirão Preto SP, Brazil.</footnote>

<footnote n="3">³Pontifícia Universidade Católica, Rio de Janeiro RJ, Brazil.</footnote>

<footnote>*Correspondence: arruda.renato@gmail.com.</footnote>
ID: 700

Area: Others

Presentation method: Presentation
Poster

The impact on the quality of life and burden over caregivers of young patients with epilepsy in the transition process: an experience report

Amanda Sousa Ribeiro<fnref n="1" />, Barbara Maini de Carvalho<fnref n="1" />*, Allana Kristina Borges Costa<fnref n="1" />, Juliana Greghi Hernanez<fnref n="1" />, Hana Andrade de Rider Brito<fnref n="1" />, Daniele Ferreira Rocha<fnref n="1" />, Daniela Fontes Bezerra<fnref n="1" />, Rubens Wajnsztejn<fnref n="1" />

Abstract

**Background:** Epilepsy is a chronic disorder that substantially affects the quality of life of its patients. The studies in this area, although quite comprehensive, do not contemplate the impact of the disease on the life of the patient's caregiver, mainly in what concerns pediatric patients. A reinforcing and responsive family environment provides direction for the child to feel safe and create strategies to cope with the disease, otherwise family attitudes and expectations may negatively influence. Data from the literature suggests that the caregiver's perception of burden is linked to the coping strategies found. The lives of both end up, in many cases, being shaped by epilepsy. An important advance in the treatment of these patients is the use of transition programs, which support individuals and their families as they change from pediatric to adult caregivers, promoting less family burden, self-reliance, and patient empowerment.

**Objective:** To identify and understand the difficulties experienced by caregivers of patients with epilepsy in the transition process, their understanding of the disease, accountability, and burden.

**Methods:** From 2019 to 2023, we applied a structured and validated questionnaire to 31 family members and caregivers of patients with epilepsy, they signed an informed consent form with 57 questions on the subject.

**Results:** 31 caregivers answered the questionnaires. The understanding regarding the health condition of the patient cared for, 53% do not understand. 43% reveal that sometimes they provide more help than the patient needs. The caregiver's health was frequently affected in 1 family member, with half of them stating as never affected. Overload was reported as ocorring in 6% and 12% feel unable to care and their dependents for much longer.

**Conclusion:** The transition process in epilepsy is of fundamental importance for us to understand what the disease means for the patient and their families and how they organize themselves to live with epilepsy, seeking a quality of life for both and reducing the burden imposed by the disease. Investments in the well-being of children in early childhood and their families emerge as a focus of engagement to avoid problems in other stages of life.

ID: 701

Area: Epilepsies

Presentation method: Eletronic Poster

Quantitative analysis of electroencephalograms performed in a patient submitted to ketogenic diet. Are there changes in brain electrical activity in state of ketosis?

Stella Mandu Cicco1,2*, Nicelle de Morais Candez1,2, Ariany Cibelle Costa Rezende1,2, Nathália Dantas de Freitas Rêgo1,2, Hugo Matos Bandeira1,2

Abstract

**Background:** The ketogenic diet is a medical treatment indicated for the control of epileptic seizures in patients diagnosed with Drug-Resistant Epilepsy. Several cohort series have reported the effectiveness of the diet. In a bibliographic review in PUBMED on electroencephalographic analysis as proof of the anti-crisis effect of the ketogenic diet, it was observed that, in most studies, visual counts were performed without systematic quantitative analysis using certified mathematical programs.

**Objective:** To prospectively and quantitatively investigate brain electrophysiological transformations of a patient with Drug-Resistant Epilepsy and treated with ketogenic diet, through specific mathematical/computational programs aimed at quantitative analysis of electroencephalograms performed.

**Methods:** A prospective, comparative and quantitative longitudinal analysis (December 10, 2021 to March 31, 2022) was carried out, in which 3 electroencephalograms were performed in a female patient, at 3 years of age, with diagnosis of Drug-Resistant Epilepsy due to Neonatal Ischemic Hypoxic Encephalopathy, with indication of ketogenic diet. They were performed according to homogeneous protocols. The patient had her blood ketosis levels measured daily.

**Results:** Statistical significance was observed in the reduction in the frequency of epileptic seizures as ketosis levels were established, as well as in the reduction in the overall frequency of reported epileptic seizures, reduction in the DELTA band and increase in the THETA and ALPHA bands in the frontal regions associated with increased entropy in the same territory, with no changes to the visual inspection of the electroencephalogams.

**Conclusion:** These findings imply that these physiological changes are related to the reduction of reported epileptic seizures, even though there are no visual changes to electroencephalogram tracings. Thus, the visual evolution of the electroencephalogram may not be a parameter for definition of response to the ketogenic diet.

ID: 702

Area: Neurogenetics

Presentation method: Eletronic Poster

Case report: mitochondrial DNA depletion syndrome 2

Andrea Sayuri Murata<fnref n="1" />*, Gustavo Henrique Fernandes Avelino<fnref n="1" />, Mariana Maciel Algazal<fnref n="1" />, Elza Akiko Natsumeda Utino<fnref n="1" />, Carolina de Souza Thimoteo Gonçalves<fnref n="1" />, Armênio Alcantara Ribeiro<fnref n="1" />

Abstract

**Case Presentation:** E.F.C.S., 2 years old, male, first child of the couple, sought our service when was 1 year and 5 months old

<footnote n="1">¹Centro Universitário Faculdade de Medicina do ABC, Santo André SP, Brazil.</footnote>

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

<footnote n="1">¹Hospital Universitário Onofre Lopes, Natal RN, Brazil.</footnote>

<footnote n="2">²Instituto Santos Dumont, Macaíba RN, Brazil.</footnote>

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

<footnote n="1">¹Hospital Regional de Presidente Prudente, Presidente Prudente SP, Brazil.</footnote>

<footnote>*Correspondence: andreasayurimurata@gmail.com.</footnote>
due to regression of motor milestones from 1 year of age, which until then were age-appropriate. They denied consonance or similar family history. On examination, the patient presented global hypotonia, hyporeflexia, little voluntary movement, and no other alterations. Molecular research was done, positive for mitochondrial DNA depletion syndrome 2. Currently the patient is under gastrostomy, tachyostomy and multidisciplinary supervision.

**Discussion:** Mitochondrial DNA depletion syndrome 2 or mitochondrial DNA depletion myopathy related to mitochondrial thymidine kinase (TK2) is a compound homozygous or heterozygous mutation in the TK2 gene on chromosome 16q21, has autosomal recessive inheritance, and may present with great clinical variability, from childhood onset with a rapidly progressive course with early death due to respiratory failure or late onset with slowly progressive myopathy. It mainly involves the genes H90N, I181N, H163N, I254N. The onset is usually near the age of 2 years. Among the clinical characteristics found, we have facial diplegia, hypotony, external ophthalmoplegia, myopathic stand up, diffuse muscular atrophy, delay or regression in the acquisition of motor skills, generally evolving to respiratory failure due to muscular weakness. Among the complementary exams we can observe lactic acidosis, aminoaciduria, increase of creatine kinase, electroneuromyography with myopathic alterations and muscle biopsy with torn red fibers. The diagnosis is made through molecular research.

**Final Comments:** This case emphasizes the importance of diagnostic suspicion for better follow-up and early referral to a geneticist for genetic counseling.

ID: 703

Area: Neurogenetics

Presentation method: Eletronic Poster

**Two combined microdeletions in a 1-year-old child: a case report**

Hana Andrade de Rider Brito<fnref n="1" />, Daniele Ferreira Rocha<fnref n="1" />, Íris do Vale Miranda<fnref n="1" />, Paulo Breinis<fnref n="2" />, Bárbara Maini de Carvalho<fnref n="1" />, Amanda Sousa Ribeiro<fnref n="1" />, Allana Kristina Borges Costa<fnref n="1" />, Juliana Greghi Hernandez<fnref n="1" />, Rafael Guerra Cintra<fnref n="2" />

**Abstract**

**Case Presentation:** H.B.C., 1-year-old female child who was brought to a pediatric neurology service due to motor delay, and facial dysmorphisms. The child exhibited global hypotonia, delayed motor development, and facial dysmorphisms such as a round face, hypertelorism, blepharospasm, deep-set eyes, long eyelashes, low ear implantation, thin nasal filter, and widened nasal base. Genetic testing revealed two pathogenic deletions in the regions 2q37.3 and 18p11.3211.21, as well as a clinically uncertain duplication in the pseudoautosomal region Xp22.23 or Yp11.32, leading to the diagnosis of a structural chromosomal abnormality.

**Discussion:** Deletion syndrome 2q37.3 is a rare chromosomal disorder with an estimated prevalence of approximately 150 cases worldwide as of 2020. The clinical manifestations are variable and may include E-type brachydactyly, short stature, mild to moderate intellectual disability, hypotonia, behavioral abnormalities, and dysmorphic facial features such as thin and highly arched eyebrows, prominent forehead, depressed

nasal bridge, full cheeks, prominent nasal septum, thin upper lip, and otologic anomalies. This syndrome is also associated with a subtype of autism. Chromosome 18p deletion syndrome is a contiguous gene deletion syndrome resulting from the deletion of all or part of the short arm of chromosome 18, with an estimated incidence of about 1 in 50,000 live-born children. The main clinical manifestations are mild to moderate intellectual disability, growth retardation, hypotonia, craniofacial dysmorphisms including a round face that may become enlarged with growth, dysplastic ears, wide mouth, dental anomalies, and abnormalities of the limbs, genitalia, brain, eyes, and heart. This syndrome is also associated with various movement disorders.

**Final Comments:** The association of two genetic alterations in the same patient that constitute different syndromes has not been previously reported in the literature. The clinical and phenotypic variability of these syndromes highlights the importance of genomic testing for accurate diagnosis and appropriate management of patients with developmental delay, hypotonia, and dysmorphic features. Genetic counseling and family testing are also crucial for early detection and prevention of potential complications. The importance of early intervention, including intensive global stimulation for better motor and intellectual development, was emphasized for the management of this patient.

ID: 705

Area: Epilepsies

Presentation method: Presentation Poster

**Ring chromosome 20 syndrome: a differential diagnosis for autoimmune encephalitis**

Alicia Carolina Coraspe Goncalves<fnref n="1" />, Rodrigo Santana Arruda<fnref n="1" />, Laura Defensor Ribeiro de Melo<fnref n="1" />, Bruno Antunes Antunes Contrucci<fnref n="1" />, Ana Paula Andrade Hamad<fnref n="1" />, Kette Dualibi Ramos Valente<fnref n="1" />, Ursula Tome<fnref n="1" />

**Abstract**

**Case Presentation:** A 7-year-old boy with pharmacoresistant epilepsy was referred to our center for pre-surgical evaluation. Developmental was normal during infancy. His epilepsy began at the age of 4 years as daily nocturnal seizures characterized by waking up, staring and mild stiffening over face and of the extremities, with or without automatisms, followed by agitation and confusion. CSF examination was normal, but he was empirically treated for meningoencephalitis. Several anti-seizures medications were started with poor control. He also received methyl prednisolone, immunoglobulin and lastly rituximab, without success. Seizures began increasing in frequency despite treatment and he developed learning disabilities and behavior problems. Brain MRI was unremarkable. PET revealed bilateral fronto-temporal hypometabolism. The metabolic work up and the whole exome sequencing test were normal. Paraneoplastic antibody panel was negative. The patient remained admitted in ICU for three months before being referred to presurgical assessment in a tertiary care epilepsy center. VEEG showed slow background and frontal epileptiform discharges. He presented nocturnal disperceptive seizures and electrographic seizures with frontal region onset. The predominant VEEG frontal

<footnote n="1">¹Centro Universitário Faculdade de Medicina do ABC, Santo André SP, Brazil.</footnote>

<footnote n="2">²Santa Casa de Misericórdia de São Paulo, São Paulo SP, Brazil.</footnote>

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

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

<footnote>*Correspondence: babi.coraspe@hotmail.com.</footnote>
region abnormalities made suspicions for r(20) syndrome. A Karyotype confirmed this diagnosis.

**Discussion:** The r(20) syndrome is a rare genetic disorder arising from a non-supernumerary ring chromosome 20 replacing a normal chromosome 20. It is commonly seen in a mosaic state and is diagnosed by means of karyotyping. The typical electro-clinical phenotype includes focal (frontal lobe) seizures and recurrent non-convulsive status epilepticus with typical EEG pattern, cognitive decline, behavioral changes, and absence of a consistent pattern of dysmorphic features. The seizures are mostly during sleep and is usually a combination of disperceptive and hyperkinetic seizures characterized by waking up, unresponsiveness, staring and motor activity (tonic, clonic or minimal motor activity) of the face and extremities, with or without automatisms, followed by agitation and confusion. Interictal EEG exhibits mild slowing or bursts of activity theta with clear contours, with a peak frequency of 5 Hz, in the fronto-temporal regions. Brain MRI is usually normal.

**Final Comments:** This case highlights the still lack of r(20) syndrome diagnosis despite the distinctive phenotype and simple genetic test as karyotype, especially in the exoma and genomic era.

ID: 706

## Area: Neuropsychiatric disorders and learning disorders

### Presentation method: Presentation Poster

**The mediating role of executive functioning on school achievement in children with attention-deficit/ hyperactivity disorder: a population-based study**

Renato Arruda<fnref n="1" />,<fnref n="2" />,<fnref n="3" />, Pedro Custodio D'Amico<fnref n="1" />,<fnref n="2" />,<fnref n="3" />, Louise Marques<fnref n="1" />,<fnref n="2" />,<fnref n="3" />, Luis Anunçaia<fnref n="1" />,<fnref n="2" />,<fnref n="3" />, Marco Antonio Arruda<fnref n="1" />,<fnref n="2" />,<fnref n="3" />

### Abstract

**Background:** Executive dysfunction plays a central role in Attention-Deficit/Hyperactivity Disorder (ADHD) symptoms and impairments. However, little is known about its mediating effect on school achievement in this vulnerable group.

**Objective:** Herein, we take advantage of a large population sample of children to examine the impact of ADHD on school achievement as mediated by executive functioning (EF).

**Methods:** Population-based survey, where parents and teachers completed validated questionnaires evaluating sociodemographic, mental health, and school achievement data. Parents fulfilled the Executive Function Inventory for Children and Adolescents. ADHD was ascertained according to DSM-5 criteria. Mediating models (bootstrapping iterations) were applied to assess: 1) total effect of ADHD on school achievement; 2) direct effect of ADHD controlled by EF score on school achievement. The mediating role was derived from the difference of total and direct effects.

**Results:** Consents and analyzable data were obtained from 3,205 children (93.9% of the target sample), 48% females, aged 5-12 years (M=8, SD=1.96). 2.5% children met criteria for ADHD showing increased risk for lower school achievement compared to non-ADHD controls (p<0.001). ADHD predicted poorer school achievement (total effect, $\beta$=-1.4, p<0.01), and

EF significantly mediated the impact of ADHD on school achievement (direct effect, $\beta$=-0.83, p<0.01).

**Conclusion:** Executive functioning plays a mediating role in the impact of ADHD on school achievement. Children with ADHD and better EF are less likely to have low school achievement. The present findings establish plausibility to further research investigating the effects of EF interventions on school achievement in this vulnerable group.

ID: 707

## Area: Neuromuscular diseases

### Presentation method: Presentation Poster

**Age at loss of ambulation in patients with DMD from the stride registry and the CINRG natural history study: a matched cohort analysis**

Eugenio Mercuri, Ana Paula Carneiro, Daiana Suelen Machado, Andressa Federhen, Craig M. McDonald

### Abstract

We examined if nonsense mutation Duchenne muscular dystrophy (nmDMD) patients receiving ataluren plus standard of care (SoC) in the Strategic Targeting of Registries and International Database of Excellence (STRIDE) Registry (NCT02369731) experienced a delay in age at loss of ambulation (LOA) versus DMD patients receiving SoC alone in the Cooperative International Neuromuscular Research Group (CINRG) Duchenne Natural History Study (NCT00468832). STRIDE is an ongoing, multicenter, observational registry providing data on ataluren use in nmDMD patients in routine clinical practice. Data were extracted on January 31, 2022. Propensity score matching identified STRIDE and CINRG patient cohorts (N=260) comparable in established predictors of disease progression: age at first symptoms; age at initiation of corticosteroid use; duration of deflazacort use; and duration of other corticosteroid use. Patients from CINRG who had received investigational drugs for DMD were excluded. Kaplan-Meier analyses were used to estimate age at LOA. The mean (standard deviation) ages at first symptoms in the STRIDE and CINRG cohorts (N=260 per cohort) were 2.8 (1.7) and 2.8 (1.5) years, respectively. Most patients (STRIDE vs CINRG) received corticosteroids for ≥12 months (85.0% vs 83.8%), with a similar proportion receiving deflazacort (47.7% vs 44.2%) or other corticosteroids (41.9% vs 43.5%). In the STRIDE cohort, 26.5% (69/260) of patients lost ambulation compared with 54.6% (142/260) of patients in the CINRG cohort. The median (95% confidence interval) ages at LOA (STRIDE vs CINRG) were 17.9 (14.8, not estimable) and 12.5 (12.0, 13.5) years, respectively. Kaplan-Meier analyses showed that ataluren plus SoC delayed age at LOA compared with SoC alone (p<0.0001). These Kaplan-Meier analyses showed that in routine clinical practice ataluren plus SoC delayed age at LOA by 5.4 years compared with SoC alone in patients with nmDMD.

<footnote n="1">¹Centro Universitário de Votuporanga, Votuporanga SP, Brazil.</footnote>

<footnote n="2">²Instituto Glia, Ribeirão Preto SP, Brazil.</footnote>

<footnote n="3">³Pontifícia Universidade Católica, Rio de Janeiro RJ, Brazil.</footnote>

<footnote>*Correspondence: arruda.renato@gmail.com.</footnote>

<footnote>*Correspondence: adossantos@ptcbio.com.br.</footnote>
ID: 708

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

**Presentation method: Eletronic Poster**

**Epidemiological profile of congenital anomalies of the nervous system in the health region of Imperatriz, Maranhão, Brazil: 2011 - 2020**

Maria Eduarda Belo Lopes<fnref n="1" />*, Jhonata Gabriel Moura Silva<fnref n="1" />, Lorena da Silva Viana<fnref n="1" />, Lucas Vinicius de Oliveira Castro<fnref n="1" />, João Penha Neto Segundo<fnref n="1" />, Laura Gabryelle Sousa de Oliveira<fnref n="1" />, Arthur Costa Junger<fnref n="1" />, Igor Fernandes Fontes<fnref n="1" />, Eduardo Mariano Carvalho Silva<fnref n="1" />

**Abstract**

**Background:** Congenital anomalies (CA), defined as structural or functional defects that develop during the intrauterine period, are a global health concern, since approximately 3% of newborns worldwide are affected by this condition, of which 2 out of 1000 cases correspond to neuropathies.

**Objective:** To describe the epidemiological and demographic characteristics of congenital anomalies of the nervous system in children born in the Health Region of Imperatriz in the state of Maranhão, Brazil, during the period from 2011 to 2020.

**Methods:** This is a descriptive and retrospective study based on secondary data collected from the database of the Live Birth Information System, referring to one of the 19 Health Regions of Maranhão, the Health Region of Imperatriz.

**Results:** A total of 50,386 live birth records in SINASC from 2011 to 2020 were analyzed. Of these, 152 (0.30%) had a diagnosis of congenital anomalies of the nervous system. The majority of mothers were of mixed race (90.78%). The most prevalent maternal age group was 20-24 years (32.89%). The majority of mothers had 8-11 years of schooling (65.78). A predominant proportion of mothers were single (75%). The majority of pregnancies were single (95.39%). The median number of prenatal visits was 3-6 visits. The majority of mothers had "more than adequately" completed prenatal care (26%). The mean gestational age was 37-42 weeks. The majority of births were cesarean (78.28%). The majority of newborns were male (59.21%) and had a weight between 2,500 - 2,999g (30.26%).

**Conclusion:** Thus, the epidemiological profile of congenital anomalies of the nervous system is characterized by a prevalence in male children, who were born at term, with normal weight and by cesarean section. In addition, most of the mothers were single, of mixed race, with education level 2, between the ages of 20-24 years old, with a single pregnancy and who underwent prenatal care more than adequately.

ID: 709

**Area: Neurogenetics**

**Presentation method: Presentation Poster**

**Familial hemophagocytic lymphohistiocytosis type 3 in children: a case report**

Isadora de Castro Leite Alcantara<fnref n="1" />,<fnref n="2" />*, Simone Soares Lima<fnref n="1" />,<fnref n="2" />, Gildene Alves da Costa<fnref n="1" />,<fnref n="2" />, Ramon Nunes Santos<fnref n="1" />,<fnref n="2" />, Lara Chaib

Rodrigues de Souza<fnref n="1" />,<fnref n="2" />, Marcela Amaral Avelino Jacobina<fnref n="1" />,<fnref n="2" />, Artur Moraes de Sousa Ribeiro<fnref n="1" />,<fnref n="2" />, Ana Teresa Spindola Madeira Campos<fnref n="1" />,<fnref n="2" />, Aritana Batista Marques Rodrigues<fnref n="1" />,<fnref n="2" />

**Abstract**

**Case Presentation:** Female patient, one year and six months old, with a history of hospitalizations by recurrent febrile conditions, admitted due to pancytopenia, fever, jaundice, hepatosplenomegaly for 8 months. Family history that sister died with a similar condition at 4 months of life. During the hospitalization, the patient presented regression of neuro-psychomotor development and ataxy, drowsiness, focal seizures. In two weeks got worse of her neurological condition and the onset of refractory seizures. The patient received therapy with milteprednisolona 30mg/kg/day however, she evolved with hemodynamic, renal, hepatic, hematological and respiratory dysfunction. It progressed to cardiorespiratory arrest and death. Laboratory tests showed: pancytopenia; hyperferritinemia 3000 mcg/L; triglyceride 333 mg/dL, fibrinogen 1,0 g/L. Myelogram showed hemophagocytic. Brain MRI showed multiple areas of signal alteration, areas of cortical rupture, foci of laminar cortical necrosis, and areas of blood-brain barrier breakdown. After all a genetic panel confirmed Familial Hemophagocytic Lymphohistiocytosis type 3 by revealing a mutation in the UNC13D gene: homozygous, variant c.3053C>A (p.Ala1018Asp).

**Discussion:** fHLH is a rare hyperinflammatory syndrome estimated to affect approximately 1/300,000 newborns in North America. Its primary form is mostly of familial origin, associated with mutations in the PRF1, UNC13D, STX11, and STXBP2 genes, related to lymphocyte cytotoxicity. The diagnosis is based on clinical and laboratory criteria, including persistent fever, splenomegaly, cytopenia, hypertriglyceridemia, and hyperferritinemia. The treatment includes chemotherapy, immunosuppression, and hematopoietic stem cell transplant.

**Final Comments:** fHLH is a rare and difficult to manage disease that can present similarly to common autoimmune diseases and infections. Despite having diagnostic criteria, genetic panels are of great value in the primary forms of the disease.

ID: 710

**Area: Neuropsychiatric disorders and learning disorders**

**Presentation method: Presentation Poster**

**Convergent validation and diagnostic performance of a new executive functioning behavior scale in identifying children with attention-deficit/hyperactivity disorder: a population-based study**

Renato Arruda<fnref n="1" />,<fnref n="2" />,<fnref n="3" />*, Pedro Custodio D'Amico<fnref n="1" />,<fnref n="2" />,<fnref n="3" />, Louise Marques<fnref n="1" />,<fnref n="2" />,<fnref n="3" />, Luis Anunciação<fnref n="1" />,<fnref n="2" />,<fnref n="3" />, Marco Antonio Arruda<fnref n="1" />,<fnref n="2" />,<fnref n="3" />

**Abstract**

**Background:** Attention-Deficit/Hyperactivity Disorder (ADHD) symptoms are strongly correlated with and predictive of executive dysfunction. The Executive Function

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

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

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

<footnote n="2">²Universidade Federal do Piauí, Teresina PI, Brazil.</footnote>

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

<footnote n="1">¹Centro Universitário de Votuporanga, Votuporanga SP, Brazil.</footnote>

<footnote n="2">²Instituto Glia, Ribeirão Preto SP, Brazil.</footnote>

<footnote n="3">³Pontifícia Universidade Católica, Rio de Janeiro RJ, Brazil.</footnote>

<footnote>*Correspondence: arruda.renato@gmail.com.</footnote>
Inventory for Children and Adolescents (EFICA) is a scale recently validated and being used clinically and in research for measuring executive functioning (EF) in children aged 5-18 years.

**Objective:** Herein, a large populational sample of children was used to examine the convergent validation and diagnostic performance of this new instrument in identifying children with ADHD from typically developing children.

**Methods:** Parents and teachers fulfilled validated questionnaires, including the parents' (EFICA-P) and teacher's (EFICA-T) versions of the EFICA, the Item Teacher and Parent Rating Scale (SNAP-IV), and the Strengths and Difficulties Questionnaire (SDQ) added by the impact supplement. ADHD was ascertained according to DSM-V criteria. Difference between means and correlation analysis among EFICA, SNAP-IV and SDQ were conducted, as well as the assessment of sensitivity (Se), specificity (Sp), and the receiver operating characteristic (ROC) curve.

**Results:** Analyzable data were obtained from 3,205 children (93.9% of the target sample), 48% females, aged 5-12 years (M=8, SD=1.96). Compared to non-ADHD controls, children with ADHD showed significantly higher EFICA scores, indicating increased EF impairment. The correlation between the EFICA and SDQ was high (r = 0.72, p < 0.001). The sensitivity, specificity, and the area under the ROC curve were, respectively, 0.9, 0.71, and 0.88 for EFICA-P; and 0.89, 0.81, and 0.88 for EFICA-T.

**Conclusion:** The EFICA questionnaire performed well in differentiating children with ADHD from non-ADHD controls. The present findings demonstrate promising diagnostic performance of the EFICA scale as an adjuvant measure for ADHD assessment.

ID: 711

Area: Neuroinfections

Presentation method: Presentation Poster

Neurotuberculosis in an infant: a diagnostic challenge

Guilherme Erlo<fnref n="1" />, Fabiana Regina Condini<fnref n="1" />, Ana Paula Antunes Pascalicchio Bertozzi<fnref n="1" />

Abstract

**Case Presentation:** A 7-month-old male infant presented to the hospital with a 15-day history of diarrhea associated with anorexia and irritability. After 3 days, the parents brought the child back to the hospital due to the persistence of the symptoms and loss of the ability to sit up by himself. He was born by vaginal delivery, Apgar 9-9, without pre ou perinatal complications, gestational age of 38 weeks, updated vaccination schedule. At admission, his physical examination was normal, except for mild signs of dehydration and mucosal pallor. Laboratory tests showed hypochromic, microcytic anemia and leukocyturia on urinalysis, empirically started ceftriaxone at the usual dosage and supportive care. After seven days receiving antibiotic therapy, the patient presented meningeal signs. Initial investigation showed a thoracic X-ray with a hyperdense opacification of the upper lobe of the right lung; and a cranial CT-scan evidenced enlargement of the lateral ventricles and multiple brain images in regions of the nucleus of the base on the left, occipital on the right and in the

cerebellar hemispheres with annular enhancement and signs of cerebrospinal fluid (CSF) flow obstruction. Ventriculoperitoneal shunt was performed and, subsequently, external ventricular shunt, and laboratory exams and cultures were collected. Started RIP scheme and amphotericin. CSF analysis was negative to Alcohol acid resistant bacilli, Cryptococcus, syphilis, cysticercosis, and other bacterial and fungal infections. Cultures were negative both in blood and in CSF. CSF adenosine deaminase level was normal. Serologies for HIV and TORSCH negatives. It was collected three gastric samples, and the third one was positive for Mycobacterium tuberculosis. After the introduction of the treatment with RIP, there was an evident clinical improvement, and he was discharged after 18 days.

**Discussion:** Neurotuberculosis is a severe form of tuberculosis disease and its clinical presentation can be pleomorphic among pediatric patients. Laboratory exams associated with clinical findings are important to better define diagnosis and therapeutic management that are crucial to improve prognosis.

**Final Comments:** Neurotuberculosis is a clinical challenge to the pediatricians due to its nonspecific clinical picture that must be taken into consideration in the differential diagnosis of these infants, since the earlier the diagnosis and correct treatment are initiated, the better is the prognosis.

ID: 712

Area: Neurological manifestations of systemic diseases

Presentation method: Eletronic Poster

A new chapter in clinical practice: main neurological manifestations of covid-19-associated multisystem inflammatory syndrome in children

Brigida Cardoso Gatti<fnref n="1" />, Jessica de Moutta Gomes<fnref n="1" />

Abstract

**Background:** Pediatric Multisystem Inflammatory Syndrome (P-SIM) associated with COVID-19 is characterized by a postviral multiorgan hyperinflammatory condition with a higher incidence between two and four weeks after infection with the SARS-Cov-2 virus. This newly identified and rare health condition leads to a serious condition with involvement and complications of various organs and systems. In this sense, the neurological involvement caused by SIM-P is one of the prognostic factors of possible worsening of this disease.

**Objective:** To identify and analyze the main neurological manifestations of the Pediatric Multisystemic Inflammatory Syndrome associated with COVID-19 in contemporary children.

**Methods:** This is a qualitative and descriptive research, carried out through an integrative review of the literature relevant to the objectives. For the elaboration of the article, a bibliographic survey was carried out in which 12 scientific articles and journals were tracked, consulted and selected, delimited between 2020 and 2023. This screening was carried out in the databases: Google Scholar, Scientific Electronic Library Online (Scielo), PubMed and health agency documents.

**Results:** Despite the negligible scientific evidence available for understanding the neurological complications of SIM-P related to the SARS-Cov-2 virus infection, it is noted that the studies consulted to compose this article report the following as the main neurological complications related to this

<footnote n="1">¹Faculdade de Medicina de Jundiaí, Hospital Universitário, Jundiaí SP, Brazil.</footnote>

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

<footnote n="1">¹Universidade Iguaçu, Itaperuna RJ, Brazil.</footnote>

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