syndrome: headache, encephalitis severe stroke, encephalopathy, dizziness, CNS infection/demyelination, acute fulminant cerebral oedema, Guillain-Barré Syndrome and epileptic seizures. With emphasis on headache, acute encephalopathy and severe encephalitis and stroke.

**Conclusion:** It appears, therefore, that it is essential to continue to carry out more research and scientific studies focused on this theme so that in the near future the scientific gaps inherent in SIM-P linked to COVID-19 are filled, since it has A new chapter has been observed in clinical practice where cases of pediatric patients with Multisystemic Inflammatory Syndrome associated with COVID-19 with neurological manifestations have been experienced. Therefore, it is essential to establish new research so that diagnosis and treatment are increasingly early, with the aim of understanding, preventing and delaying these neurological complications in the pediatric public.

ID: 714

Area: Others

Presentation method: Presentation
Poster

Cefepime-induced encephalopathy in teenager with febrile neutropenia: a case report

Emanuelle Bianchi da Silva Rocha<fnref n="1" />*, Amanda Póvoa de Paiva<fnref n="1" />,
Ivan Coelho Machado<fnref n="1" />, Lucas Fernando Chicheto Brancaglião<fnref n="1" />,
Vanessa Limeira Pontes de Lucena<fnref n="1" />, Roberta Fantuzzi Borges<fnref n="1" />,
Ana Paula Ribeiro Faria<fnref n="1" />, Rafaela Pichini de Oliveira<fnref n="1" />, Ana Paula
Andrade Hamad<fnref n="1" />

Abstract

**Case Presentation:** A 17-year-old girl, with an ovarian tumor of the endodermal sinus metastatic to the liver acutely presented somnolence, eye-opening only to verbal commands, need for frequent stimulation to stay awake, irregular groans and aphasia. There were no focal deficits or seizure signs. She received her last dose of polychemotherapy with cisplatin, ifosfamide, and etoposide 17 days ago and was on the 12th of cefepime for febrile neutropenia. Complementary exams evidenced creatinine of 4,71 mg/dL, metabolic acidosis (bicarbonate 7.5 mEq/L) and no active infection or electrolyte imbalance. Cranial computed tomography and cerebrospinal fluid were normal. Electroencephalogram displayed moderated to marked diffuse disorganization of the base activity, increased the content of slow waves in the delta band associated with periodic triphasic waves predominately in anterior regions, compatible with metabolic encephalopathy. The patient worsened over 24 hours, reaching a stupor and with intensified renal failure. Daily intermittent hemodialysis was initiated considering the progressive elevation of creatinine, reduction of diuresis and neurological condition, considered as probable cefepime-induced encephalopathy. Immediately after the first session of hemodialysis, the patient showed considerable improvement with spontaneous eye opening, emission of single words, and ability to obey commands. On the following days, she had complete neurological improvement and progressively improved renal function, making it possible to interrupt the hemodialysis within 2 weeks.

**Discussion:** Cefepime-induced encephalopathy is relatively rare but well known in the elderly, though scarcely described

in children. The primary risk factor for cefepime neurotoxicity is renal dysfunction; nearly 10% of serum cefepime crosses the blood-brain barrier, however in renal impairment, this rate increases up to 45%, and half-time of the drug increases from 2 to 13 hours. Other risk factors are preexisting brain injury, high cefepime serum concentrations, and co-administered neurotoxic drugs. Our patient was a teenager, with renal dysfunction and recent use of ifosfamide. The time since the last of the chemotherapy allowed us to exclude it as the cause.

**Final Comments:** Until now, there are less than 10 reported cases of cefepime-induced encephalopathy in the pediatric population. This work highlights the need for vigilance of cefepime neurotoxicity regardless of patient age, especially in a high-risk population.

ID: 715

Area: Malformations of the central
nervous system

Presentation method: Presentation
Poster

Case report: a case of perinatal ischemic stroke due to
arteriovenous malformation

Allana Kristina Borges Costa<fnref n="1" />*, Amanda Souza Ribeiro<fnref n="1" />, Barbara Maine Carvalho<fnref n="1" />, Hana Rider Brito<fnref n="1" />, Juliana Greghi Hernandez<fnref n="1" />, Daniele Ferreira Rocha<fnref n="1" />, Roberta Caramico Pinto<fnref n="1" />

Abstract

**Case Presentation:** We report the case of an ischemic stroke in a newborn. This is a male infant, son of a 37-year-old mother, without comorbidities, with complete prenatal care, no complications during pregnancy and negative serologies. Non consanguineous parents, no family history of epilepsy, first child with traits suggestive of autism. Birth by vaginal delivery, 40 weeks gestation and weight appropriate for gestational age, apgar score 8/9, use of forceps due to maternal exhaustion resulting in tocotrauma and cephalohematoma in the left parietal region. On the second day of life, he presented hypoactivity and spasms in the SLM. A skull X-ray was performed, with no signs of fracture. At this time metabolic causes were also ruled out. Due to the persistence of the condition, he received Phenobarbital - which after a few days was replaced by Levetiracetam. A CT scan of the skull revealed a left parietal fracture with epidural and subgaleal hematoma, leukomalacia, and signs of atrophy in the left frontoparietal subcortical region. Discrete dilatation of the left lateral ventricle and widening of the cortical sulci. The patient evolved with progressive clinical improvement, without new seizures. At 2 months of life, he underwent skull MRI that showed cystic formations in the left parietal region, related to the neurological sequela. In addition, an angioneurosonance of the skull showed a vascular malformation suggestive of hypoplasia of the middle cerebral artery and its collateral arteries. Thus, we consider that the process that led to the stroke may have started by flow restriction still in the intrauterine period, reducing the chance of a relationship with tocotrauma.

**Discussion:** Although most neonatal seizures are related to acute brain injury, mainly due to hypoxic-ischemic encephalopathy, about 15% of neonates have neonatal epileptic syndromes, due to congenital brain malformations in 41%, or to genetic etiologies in 42% of this subgroup, with a 9%

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

<footnote>*Correspondence: m.bianchis@hotmail.com.</footnote>

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

<footnote>*Correspondence: allanaborges@hotmail.com.</footnote>
overlap between structural and genetic etiologies. Neuroim-
aging, thorough biochemical screening and genetic investi-
gation in the first weeks of life are essential for identification
of the underlying etiology, initiation of optimal treatment,
and for counseling and prognosis in neonatal epilepsies.

*Final Comments:* In this context we note the need to rule out structural causes of epilepsies in the neonatal period, their differential diagnoses, and the current prevalence of cases.

ID: 716

Area: Neuroimmunology, multiple sclerosis and other demyelinating diseases

Presentation method: Eletronic Poster

Miller Fisher syndrome: a case report

Ariany Cibelle Costa Rezende<fnref n="1" />,<fnref n="2" />, Stella Mandu Cicco<fnref n="1" />,<fnref n="2" />, Hugo Matos Bandeira<fnref n="1" />,<fnref n="2" />, Nathalia Dantas de Freitas Rêgo<fnref n="1" />,<fnref n="2" />, Bianca Carolina Serafim do Nascimento<fnref n="1" />,<fnref n="2" />

*Correspondence: arianycibelle@gmail.com.

Abstract

Case Presentation: A 6-year-old female patient had fever, headache and odynophagia for 12 days, with intermittent periumbilical pain afterwards. She, then, presented pain on the right eye, associated with ocular discharge, edema and eyelid ptosis. She progressed over the days with dysarthria, labial rhyme deviation to the left, in addition to progressive limb paresis. Initially, he presented progression of paresis, with difficulty in overcoming gravity in the upper and lower limbs bilaterally, progressing with ataxic gait and dysphagia. Considering the clinical picture, Miller-Fisher Syndrome was suspected, which was corroborated with magnetic resonance imaging of the thoracic and lumbar spine, demonstrating thickening and post-contrast enhancement of the roots of the cauda equina, notably the dorsal roots, in addition to electro-neuromyography with a demyelinating pattern and cerebro-spinal fluid analysis with protein-cytological dissociation. In addition, a search for anti-GQ1b antibodies was performed, which confirmed the diagnostic hypothesis. Thus, targeted therapy with intravenous immunoglobulin was started with a significant response in the neurological condition, progres-sively recovering strength in the limbs, improvement in gait and dysphagia.

**Discussion:** Miller Fisher syndrome is a rare disease, a benign variant of Guillain-Barré Syndrome and is characterized by the clinical triad of ataxia, cranial nerve involvement and areflexia. Associated with previous infections or immunizations. The most related etiological agents are Campylobacter jejuni, cytomegalovirus, Epstein-Barr virus and Streptococcus pyogenes. Infection with Campylobacter jejuni, which has lipopolysaccharide similar to GQ1b, can trigger the production of anti-GQ1b IgG antibody. The cerebrospinal fluid findings and electrophysiological features are similar to those of acute inflammatory demyelinating polyneuropathy. Immunotherapy with intravenous immunoglobulin or plasma- pheresis is indicated for patients four weeks after the onset of symptoms and still without clinical improvement.

*Final Comments:* The description of this clinical case aims to help the recognition of the classic clinical manifestations of

this neurological syndrome and guide the performance of
laboratory and imaging tests, allowing the early initiation of
treatment, in order to promote quality of life and avoid
possible complications.

ID: 717

Area: Neurogenetics

Presentation method: Presentation Poster

Rubinstein-Taybi syndrome: case report of a rare syndrome
caused by an abnormality of chromosome 16

Déborah Araújo Leitão<fnref n="1" />,<fnref n="2" />, Gabrielle Miranda Magalhães
Pinto<fnref n="1" />,<fnref n="2" />, Isabelle Diniz Melo<fnref n="1" />,<fnref n="2" />, Maria Clara Feitosa de 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" />, 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: GDNS, male, 8 years old, born at term by cesarean delivery. His parents were non-consanguineous and he had no family history of genetic syndromes. The mother noticed some developmental alteration when he was 9 months old, and he started being monitored at 14 months. On physical examination, hypertelorism, inability to sit down, appendicular hypotonia, enlarged thumbs and hallux, and micrognathism were identified. The mother reported that the child had difficulty eating and a videofluoroscopy exam was performed to investigate, which confirmed oropharyngeal dysphagia. It was observed that the child's tear duct was obstructed. Considering the findings of psychomotor developmental delay, facial dysmorphisms and low weight and height for age, a complete exome sequencing was requested to identify the clinical suspicion of Rubinstein-Taybi syndrome. A heterozygous, probably pathogenic variant was found in the CREBBP gene, which confirmed the patient's clinical condition. The recommendation was for the patient to continue in multidisciplinary follow-up to assist in neuropsychomotor development.

**Discussion:** In this case, the so-called Rubinstein-Taybi Syndrome is described, which affects 1 in every 300,000 live births. This genetic disease has an autosomal dominant character that most frequently affects the CREBBP gene (about 56%), which is located on chromosome 16p13 and encodes a cAMP binding protein called CREB binding protein, which plays an important role in the transcription of different genes. About 3-8% of cases affect the EP300 gene and about 30% of cases still have no defined genetic cause. Great thumbs and great toes are characteristic of this disease. Facial dysmorphia, intellectual disability and delayed postnatal development are also found. The diagnosis is primarily clinical to be confirmed with the aid of genetic testing.

*Final Comments:* It is important for the professional to make a structured clinical diagnosis, since, in most cases, the exam can confirm this diagnosis, but there is still a large percentage of cases in which the genetic alteration causing the problem is not known. Therefore, more studies focused on both the causes and the management of these patients are

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

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

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

<footnote n="2">²Universidade Federal do Ceará, Fortaleza CE, Brazil.</footnote>
ID: 718

Area: Movement disorders

Presentation method: Eletronic Poster

**GNAO1: description of three distinct cases with the same genotype and literature review**

Taynara Montes Araujo Cascão Figueiredo<fnref n="1" />, Matheus de Souza Rosa<fnref n="1" />, Jaqueline Mendonça Gondim<fnref n="1" />, Rafaela Pichini Oliveira<fnref n="1" />, Carla Andreia Tanuri Caldas<fnref n="1" />, Maria Avanise Yumi Minami<fnref n="1" />, Vitor Tumas<fnref n="1" />, Ana Paula Andrade Hamad<fnref n="1" />

*Correspondence: matheus_bh09@hotmail.com.

**Abstract**

**Case Presentation:** Case 1: a previously healthy 1-year-old male, developed global developmental delay along with dyskinetic tetraparesis and dystonia in the course of 2 years. Electroencephalogram (EEG) was normal, genetic tests presented a pathogenic variant in GNAO1 gene. Case 2: a previously healthy 8-year-old male, started with versive eye seizures at one year old. Later, he developed episodes of upper limb adduction with tonic posturing lasting a few seconds, primarily while sleeping. Brain magnetic resonance imaging (MRI) showed an ectasia of the lateral ventricles and EEG was compatible with diffuse encephalopathy. Genetic tests presented a pathogenic variant in GNAO1. Case 3: Child 3 years old, female, without complications during pregnancy and birth, evolved with global delay in neuropsychomotor development along with dystonia since she was one year old. EEG showed epileptogenic discharges, and genetic tests also presented a variant in GNAO1.

**Discussion:** GNAO1 encephalopathy is a rare neurodevelop-
mental disorder characterized by movement desorders main-
ly dystonia and early-onset epileptic encephalopathy. GNAO1
encodes Gyo, the ÿ subunit of Go, which is the most abundant
membrane protein in the mammalian central nervous sys-
tem. It plays important roles in synaptic neurotransmission
and neurodevelopment. Comprehensive phenotyping is very
important for the diagnosis of these patients, even in the
genomic era. It is important to consider the mechanisms
underlying movement disorders associated with GNAO1 to
rationalize the clinical heterogeneity resulting from different
variants, as well as the implications for therapeutic choices.
The most common manifestations associated to these var-
iants in GNAO1 are hypotonia, developmental delay, chor-
eoathetosis, epilepsy and dystonia. The literature review
demonstrates that movement disorders correspond to 89%
of the cases, with comorbid epilepsy in 41% of patients.

**Final Comments:** The advances in genetic investigations meth-
ods improved our diagnostic accuracy. However, understand-
ing the phenotypic heterogeneity is important in the case of
conditions with broad presentation in order to treat pro-
minent symptoms and give families the needed support
throughout the disease process. Further literature is needed
to improve our knowledge of GNAO1-related presentations.

ID: 719

Area: Inborn errors of metabolism

Presentation method: Eletronic Poster

Acrodermatitis enteropathica-like syndrome in a child with
maple syrup urine disease in diet therapy

Hugo Matos Bandeira<fnref n="1" />, Stella Mandu Cicco<fnref n="1" />, Ariany Cibelle Costa Rezende<fnref n="1" />, Nathália Dantas de Freitas Rêgo<fnref n="1" />, Bianca Carolina Serafim do Nascimento<fnref n="1" />

*Correspondence: stellaciccco@gmail.com.

Abstract

Case Presentation: An infant, male, 1 month and 20 days old, was admitted to the Intensive Care Unit after a tonic focal epileptic seizure associated with previous hypotonia, lack of gaze fixation, weak sucking and weight loss. During hospitalization, new focal seizures, recurrent hypoglycemia and respiratory distress were observed, in addition to a cardiorespiratory arrest. Magnetic resonance imaging of the brain showed supra and infratentorial leukoencephalopathy, with involvement of the brainstem, cerebellum, optic chiasm, optic tracts and optic radiation. Electroencephalogram showed diffuse disorganization of background activity, paroxysmal spikes and acute wave of multifocal projection. Amino acid chromatography revealed increased serum levels of valine, leucine and isoleucine, confirming the diagnosis of maple syrup urine disease. After starting a diet with restriction of these amino acids, the patient had no new epileptic seizures or hypoglycemia, but presented an initially perioral erythematous erosive lesion, progressing with perianal and limb involvement, 12 days after the diet was introduced. With a presumptive diagnosis of isoleucine deficiency dermatitis, supplementation with isoleucine was offered with subsequent regression of the lesions.

Discussion: Maple syrup urine disease is a condition in which there is enzymatic blockage of the catabolism of branched-chain amino acids leucine, isoleucine and valine. Treatment consists of normalizing the levels of these amino acids, as they are neurotoxic when increased. The restrictive diet seeks this objective, but by reducing the concentration of these amino acids to subnormal levels, clinical manifestations due to the lack of these substances may occur. One of these clinical manifestations is the acrodermatitis enteropathica-like syndrome which, unlike acrodermatitis enteropathica, leads to the appearance of periorificial scaly erythematous plaques due to deficiency of essential amino acids, such as isoleucine, as observed in this case. Thus, aiming at regression of the lesions, the treatment is carried out with isoleucine supplementation.

Final Comments: Despite the low incidence of maple syrup urine disease, it is important to know about possible undesirable effects of dietary restriction in children with this condition, as well as in other metabolic diseases. The rapid observation and management of these events can improve the quality of life and reduce the morbidity of these patients.

ID: 720

Area: Neuropsychiatric disorders and
learning disorders

Presentation method: Eletronic Poster

Neuronutrition in ADHD: an intertwining of eating habits and suicide in adolescents with ADHD

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

*Correspondence: brigida_gatti@hotmail.com.*

Abstract

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

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

<footnote n="1">¹Universidade Iguaçu, Itaperuna RJ, Brazil.</footnote>
**Background:** Attention Deficit Hyperactivity Disorder (ADHD) is a neurobiological disorder that affects neurodevelopment and is one of the most prevalent disorders in childhood and teenagers. This last phase of life is characterized by being a transition between childhood and adulthood, being marked by a comprehensive development in different areas. In this sense, this phase is susceptible to environmental influences such as dietary patterns, thus making adolescents a nutritionally vulnerable group.

**Objective:** Elucidate and determine an intertwining of eating habits and suicide in children and adolescents with ADHD, as this theme has a significant impact on the well-being of adolescents with this neurobiological disorder.

**Methods:** A qualitative and descriptive research was carried out through an integrative literature review in which a bibliographic survey was carried out through visits to relevant databases such as SCIELO, PubMed, Google Scholar and documents from health agencies. In this perspective, after the literature survey, 15 articles were selected, delimited between 2019 and 2023, in an attempt to provide answers to the guiding question of the investigated problem and the established objectives.

**Results:** The main symptoms of ADHD are hyperactivity, impulsivity and inattention. In the teenage public, a higher prevalence of impulsivity was observed. Added to this, there is also impairment in executive functions as well as in social relationships. In addition, changes in the gut-brain axis resulting from the recurrent consumption of ultra-processed foods lead to the worsening of ADHD symptoms, such as impulsivity in this age group, especially in patients without treatment due to lack of diagnosis and in those who recently started pharmacological treatment. According to studies, individuals who have the neurobiological disorder are 2 to 4 times more likely to commit self-extermination when compared to the general population.

**Conclusion:** It is understood, therefore, that adolescents with ADHD who have inappropriate eating habits may have worsened symptoms due to inadequate eating habits. Due to the worsening of impulsivity added to the impairment of social relationships and executive functions linked to exacerbated anxiety in this age group, adolescence becomes a phase of life of significant nutritional and psychological vulnerability, as well as a greater propensity for self-extermination in contemporary times

ID: 721

**Area: Neuropsychiatric disorders and learning disorders**

**Presentation method: Presentation Poster**

**Group-based behavior intervention focused on attention deficit hyperactivity disorder (ADHD) symptoms for school aged children in a low-and-middle income country**

Carolina Correia Abati<fnref n="1" />, Ana Gabriele Gomes Warkentin<fnref n="1" />, Daniele Ribeiro Doria<fnref n="1" />, Gustavo Manoel Schier Doria<fnref n="1" />, Giovana Veloso Munhoz Rocha<fnref n="1" />

**Abstract**

**Background:** Children with ADHD have symptoms of inattention, hyperactivity and impulsivity, characterized by deficits and behavioral excess that interfere with overall functioning. The behavioral approach consists of promoting and maintaining behaviors that are incompatible with those that characterize the disorder. In a group context the contingencies can be intuitively important to facilitate the acquisition of behaviors in ADHD cases: rule-based control, self control, attention and social repertoire. Group psychotherapy is relevant as it provides direct exposure to peer relationships, opportunities to solve problems, control impulses and train social skills in a protected context mediated by therapists.

**Objective:** To analyze the feasibility of a group-based behavioral intervention program for children with ADHD, aged 7 to 13.

**Methods:** The feasibility components tested were: treatment adherence and intervention effects. The procedure used to assess the effects of the intervention consisted of analyzing the content of pre- and post-intervention interviews with parents and children and analyzing the Five Digit Teste (FDT) and Social Skills Rating Scale (SSRS) instruments.

**Results:** This is a pilot study conducted at a public hospital that offers specialized care in neuropediatrics and child and adolescent psychiatry. Twelve group-based behavioral therapy sessions were carried out with 10 children between 8 and 13 years old. The results indicated an improvement in the social skills repertoire, although some difficulties remained. It was noticed that the level of education and presence of mental disorder of the main caregiver are important variables to determine adherence to treatment, as well as the severity of symptoms of ADHD, presence of comorbid diagnoses and use or not methylphenidate were important variables of adherence in children.

**Conclusion:** The factors connected to feasibility suggest that this intervention can be effective for the treatment of ADHD in a low/middle income country as Brazil, considering the population, the socioeconomic characteristics and the therapeutic resources used. It is important to point out that this is intended to be a pilot study, and it is necessary, for better results, to carry out a randomized clinical trial.

ID: 722

**Area: Inborn errors of metabolism**

**Presentation method: Eletronic Poster**

**Neurological recovery in MELAS syndrome: a case report**

Isadora de Castro Leite Alcantara<fnref n="1" />,<fnref n="2" />, Simone Soares Lima<fnref n="1" />,<fnref n="2" />, Marcela Amaral Avelino Jacobina<fnref n="1" />,<fnref n="2" />, Carolina Campelo Lima Sousa, Luana Araujo Martins, Jaci de Lourdes Sousa Costa, Juliano Coimbra Uchoa Leitao<fnref n="1" />,<fnref n="2" />, Angelica Maria Assunção da Ponte Lopes<fnref n="1" />,<fnref n="2" />, Joao Guilherme Campelo Brandim de Sa Lopes<fnref n="1" />

¹Hospital Infantil Lucídio Portella, Teresina PI, Brazil.

**Abstract**

**Case Presentation:** Female patient, eleven years, presented headache, tremors, and dysarthria and recurrent seizures. Two years earlier, she had been hospitalized due to fever, vomiting, headache, tremors, and nystagmus. Brain MRI at the time showed diffuse vasogenic and cytotoxic edema in the left occipital and parietal lobes. She was treated for encephalitis and discharged. In the family history, her mother died of an astrocytoma at the age of 24. Brain MRI showed T2-weighted and FLAIR hypersignal, with swelling effect, involving the cortical-subcortical transition of the parietal-occipital-temporal region on the left. The study of proton spectroscopy showed a reduction in the peaks of N-acetyl aspartate, choline, and creatine, with an increase in the peaks

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

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

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

<footnote>*Correspondence: alcantaraisadorac@gmail.com.</footnote>
of lipids and lactate, suggesting the diagnosis of Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome. She was treated with a maintenance dose of L-arginine, Coenzyme Q10, L-carnitine, and creatine. The patient presented frequent vomiting and significant neurological dysfunction, unable to interact, communicate or walk. Then, L-carnitine and creatine were suspended, and fluoxetine and lamotrigine were started. In the third month, the vomiting episodes ceased, and the patient showed significant neurological improvement, being able to walk, talk, eat, paint, and recognize figures.

**Discussion:** MELAS syndrome is a rare disease, but it is the most common mitochondrial encephalopathy. Occurs by maternal inheritance of pathogenic mtDNA variants, commonly associated with MT-TL1 gene mutations. There is a peak incidence in childhood, around 8 years of age, and another in adults, around 40 years. Clinical manifestations of MELAS include recurrent vomiting, headache, seizures, and neurological changes. Neurologic deficits after stroke-like episodes tend to progress over time to dementia.

**Final Comments:** MELAS syndrome is an important differential diagnosis for stroke-like conditions in the pediatric population. Treatment is supportive and rehabilitation is important for patients' neurological recovery and prevention of dementia.

ID: 724

Area: Neurogenetics

Presentation method: Presentation
Poster

Pseudohypoparathyroidism secondary to Albright's
hereditary osteodystrophy: a case report

Emanuelle Bianchi da Silva Rocha¹, Janaina Moraes de Araújo¹,
Lilian Aparecida Sansão¹, Felipe Pires de Albuquerque¹, Livia
Pires de Albuquerque¹, Renan Campi Gomes¹, Débora de Cássia
Tomaz Fernandes¹

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

*Correspondence: m.bianchis@hotmail.com.

Abstract

**Case Presentation:** A 6-year-old boy, born small for gestational age, with previous history of neurodevelopmental delay and congenital hypothyroidism, presented he first seizure described as ocular elevation and global hypotony during sleep with duration of five minutes and followed by drowsiness. At admission, we noted brachydactyly, short stature, short neck and round face. Neurological examination revealed difficulty to obey complex commands, language delay and a wide-based gait. Complementary investigation identified hypocalcemia (ionized calcium: 0.74 mmol/L and total calcium: 6.3 mmol/L), hyperphosphatemia (9.4 mmol/L) and high level of parathyroid hormone (394 pg/mL) with normal renal function (creatinine: 0.4 mg/dL and urea: 28 mg/dL). Magnetic resonance imaging of the brain showed bilaterally and symmetrically foci of hyper sign in regions of cortical-subcortical transition involving infratentorial and supratentorial white matter and the basal ganglia, possibly representing calcifications. Long bones xray presented osteopenia and signs of cortical thinning. After a discussion between neuropediatric and endocrinopediatric teams, the hypothesis was pseudohypoparathyroidism secondary to Albright's Hereditary Osteodystrophy (AHO), confirmed with genetic test that evidenced a variant pathogenic in the GNAS gene.

**Discussion:** The first description of Albright Hereditary Osteodystrophy dates from 1942, but so far there is no dates about prevalence, and it is probable underestimated. This syndrome includes a constellation of signs, in addition to those presented in our patient, obesity, subcutaneous ossifications, dental abnormalities, cataract, cognitive impairment and pubertal delay are common. Seizures, cramps and spasms occur because hypocalcemia secondary to elevated parathyroid hormone.

**Final Comments:** The path to diagnose AHO emphasizes the importance of a broader view of the patient, which should go beyond neurological manifestations, providing early detection of this rare, and probably underestimated, syndrome and consequently enable adequate management of the various manifestations of the disease.

ID: 725

Area: Neurogenetics

Presentation method: Presentation
Poster

Peter-plus syndrome: case report of a rare syndrome with
several involvements

Déborah Araújo Leitão¹,², Gabrielle Miranda Magalhães
Pinto¹,², Isabelle Diniz Melo¹,², Maria Clara Feitosa de Melo¹,²,
Isabel Bessa Leite¹,², Samuel Lucas Almeida da Silva¹,², Fabiane
Elpídio de Sá Pinheiro¹,², José Lucivan Miranda¹,²

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

²Universidade Federal do Ceará, Fortaleza CE, Brazil.

*Correspondence: gabriellemmp1@hotmail.com.

Abstract

**Case Presentation:** JLSA, 2 years old, male, born by cesarean delivery at 37 weeks, weighing 2646 g. His parents were non-consanguineous. He was born with bilateral total leucoma and was operated for congenital glaucoma in both eyes, with pressure control, but persisted with irreversible bilateral corneal opacity. He was classified with a level of protein-caloric malnutrition grade III at 1 year of age, due to difficulty gaining weight. In addition, he had facial dysmorphisms, bilateral cryptorchidism, cleft palate, neuropsychomotor developmental delay, difficulty accepting food and moderate hearing loss. A CT scan of the skull was performed at 3 months and hypoattenuation was detected in the subcortical and deep white matter of anatomical distribution in supratentorial topography. Considering the presentation, the complete exome sequencing was requested, in which a pathogenic variant was identified, in homozygosis, in intron 8 of the B3GLCT gene, associated with Peter-Plus Syndrome. The child is under multidisciplinary follow-up with the goal of improving his quality of life.

**Discussion:** This case evidences several complications presented by a child with Peter-Plus Syndrome, a rare disease that has an incidence of <1/1,000.00. It results from a pathogenic variant located in the B3GLCT gene. This syndrome has a strong component of vision impairment, causing anomalies in the anterior chamber, the most common of which is Peter's Anomaly, which consists of central corneal opacification, decreased thickness of the posterior cornea, and iridocorneal adhesions. These patients may also have cataracts and glaucoma. In about 80% of cases the child may have some level of intellectual disability.

**Final Comments:** Bearing in mind that this rare syndrome exposes the patient to a delicate clinical condition, it is necessary for the scientific community to research more
and publish more works on this pathology, to help health professionals to deal better with patients and their families.

ID: 726

Area: Neonatal neurology

Presentation method: Presentation Poster

**Fetal dural sinus thrombosis: case report and management review**

Daniel Natalio Gauss Yankelevich¹, Louise Scridelli Tavares¹,
Marcelo de Melo Aragão¹, Ricardo da Silva Pinho¹, Catherine
Marx¹

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

*Correspondence: louise.tavares@hotmail.com.

Abstract

**Case Presentation:** The patient was the second child of healthy non-consanguineous parents. Her mother presented only with hypothyroidism during an otherwise uneventful pregnancy. Ultrasound at 30 weeks revealed bilateral ventriculomegaly, hypoplasia of corpus callosum and absent septum pellucidum. Further fetal MRI evidenced thrombosis of the torcular, both transverse sinuses, ¹/₃ of the straight and sagittal sinus, venous dilatation at parasagittal high convexity and signs of previous hemorrhage in both choroid plexus, symmetrical ventricular dilatation, intraventricular clots, absent septum pellucidum and thin corpus callosum. She was full-term, born in a cesarean birth due to non-reassuring fetal status. She was small for gestational age, normal head circumference and presented with mild global hypotonia. Neonatal brain MRI confirmed fetal findings. No maternal or neonatal coagulopathy or infection was found, and the baby was discharged with no complications at 17 days old.

**Discussion:** Fetal dural sinus thrombosis (DST) is a rare condition diagnosed antenatally through ultrasound by the identification of an echogenic posterior fossa mass, containing a focal hyperechoic area within. MRI fetal studies provide confirmation of the DST and insight into complications such as ventriculomegaly and local compression. Less than 100 cases are described in literature. To date, there is no evidence to support association with maternal or neonatal coagulopathy, infection or trauma. It has been hypothesized that anatomical malformations of the dural sinus may occur, leading to disturbance of blood circulation and damage of the vascular endothelium. A minority of cases result in fetal or neonatal death and most cases result in decrease or complete resolution of thrombosis antenatally. In majority cases no intervention is needed. If there is hydrocephalus or parenchymal congestion, post-natal anticoagulation and embolization of arteriovenous fistulas should be considered, especially if rapid progression of thrombosis occurs.

**Final Comments:** We report a rare case of DST. This unusual condition is usually suspected in fetal US and confirmed through MRI. There is no current consensus guideline for treatment, but anticoagulation and embolization should be considered if there are signs of worsening venous hypertension.

ID: 727

Area: Neuromuscular diseases

Presentation method: Eletronic Poster

Ataluren preserves upper limb function in NMDMD patients from study 041, a phase 3 placebo-controlled trial, and the stride registry

Craig M. McDonald, Ana Paula Carneiro, Daiana Suelen
Machado, Andressa Federhen, Panayiota Trifillis

*Correspondence: adossantos@ptcbio.com.br.

Abstract

We assessed performance of upper limb (PUL) function in nonsense mutation Duchenne muscular dystrophy (nmDMD) patients receiving ataluren+standard of care (SoC) in Study 041 (NCT03179631), a phase 3, double-blind, placebo-controlled 72-week trial, and in the STRIDE Registry (NCT02369731), an ongoing, long-term, real-world evidence study. In Study 041, nmDMD boys aged ≥5 years, on a stable corticosteroid regimen, and with a 6-minute walk distance (6MWD) ≥150m were randomized 1:1, ataluren: placebo. The intention-to-treat (ITT) population comprised randomized boys who received at least one dose of study treatment (N=359; mean age 8.1 years); a key subgroup included those with baseline 300-400m 6MWD (n=169). STRIDE patients were propensity-score matched to patients receiving SoC alone in CINRG DNHS (NCT00468832), yielding a comparable population (N=261). Kaplan-Meier analyses estimated age at loss of upper limb function. Least-squares mean PUL total score change from baseline to week 72 (by MMRM analysis) numerically favored ataluren vs placebo (0.44, p=0.1059) in the Study 041 ITT population and was significant in the 300-400m 6MWD subgroup (1.02, p=0.0165). Inmatched STRIDE vs CINRG patients (mean last assessment age, 13.1 vs 14.6), ataluren preserved hand-to-mouth function by 3.4 years (p=0.0046) as assessed by entry level items of PUL vs Brooke Scale, respectively. Median age at loss of overhead reach numerically favored STRIDE, consistent with the overall trend (15.8 vs 12.6; p=0.2872). Median age at loss of distal hand function was non-estimable for STRIDE patients. Results indicate that ataluren may help preserve upper limb function in advanced nmDMD patients.

ID: 729

Area: Inborn errors of metabolism

Presentation method: Presentation Poster

**Case report: deficiency of multiple acyl-coenzyme a dehydrogenases**

Andrea Sayuri Murata¹*, Amanda Cristina Neves¹, Thayna
Jardim Monzani¹, 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: L.E.S.P., 10 years-old, male, was referred to our service due to muscle weaknnes in the lower limbs 1 week ago, associated with daily vomiting with weight loss of
6 kg in 1 month. On examination, he has grade IV muscle
strength and hyporreflexia in lower limbs, hip tilt, positive
gowers signal, and no other changes. History of a similar
condition 3 months ago with spontaneous resolution. Per-
formed initial tests with creatine kinase (CK) 15173, lactic
dehydrogenase (LD) 16600, glutamic pyruvic transaminase
(GPT) 750 and glutamic oxaloacetic transaminase (GOT)
1915; magnetic resonance imaging (MRI), without altera-
tions; electroneuromyography with a decrease in the ampli-
tude of motor unit powers and abdominal ultrasound
showing mild hepatic steatosis (grade I). Collected panel for
neuromuscular disease research, positive for multiple acyl-
coenzyme A dehydrogenase deficiency (MADD) or glutaric
academia IIC. After 1 month the patient evolved with clinical
improvement. Presenting no new events after the introduc-
tion of riboflavin.

**Discussion:** Deficiency of multiple acyl-CoA dehydrogenases (MADD) or glutaric acidemia IIC has an autosomal recessive inheritance and can present in 3 ways according to the gene involved. Neonatal form with congenital anomalies (type I), usually manifests with severe non-ketotic hypoglycemia, hypotonia, hepatomegaly and metabolic acidosis in the first 24 hours of life and usually evolves to death in the first week of life. Neonatal form without congenital anomalies (type II), presents onset in the first 24 to 48 hours of life with symptoms similar to type I. Mild form or late presentation (type III), manifests with chronic myopathy (intolerance to physical exercise, weakness muscular pain, myalgia), metabolic acidosis, hypoglycemia, increase in transaminases and elevation of muscle enzymes after decompensation. In addition to the different clinical forms, some features may be present, such as dysplastic or polycystic kidneys, blotter foot, hypertelorism, high forehead, low-set ears, wide anterior fontanelle, sweaty foot odor, anomalies in the external genitalia and midline hypoplasia from the face. The diagnosis is made through molecular analysis. Although there is no curative treatment, it is known that patients respond satisfactorily to the use of riboflavin.

*Final Comments:* In view of this situation, reaffirms itself the importance of suspecting inborn errors of metabolism in recurrent conditions that can be triggered by an infectious or metabolic condition

ID: 730

Area: Neuromuscular diseases

Presentation method: Presentation
Poster

Congenital Bailey Bloch myopathy: a case report

Samantha Lopes Oliveira<fnref n="1" />, lana Maciel Silva Souza<fnref n="1" />, Vitoria Faustino Silva Reis<fnref n="1" />*, Camilo Vieira Santana<fnref n="1" />, Juliana Silva Almeida Magalhães<fnref n="1" />

Abstract

Case Presentation: T.S.S., 15 years old, female, reports motor delay (she acquired gait at 18 months), frequent falls, joint fragility associated with hypermobility, and significant fatigue associated with long walks. In addition, she reported scoliosis with surgical indication. During hospitalization for surgery, she developed generalized muscle rigidity, masseter spasm, increased pCO2, rapid temperature rise (>38°C), and rapid reversal of symptoms after administration of Dantrolene,

a clinical picture suggestive of malignant hyperthermia.
The patient evolved with dysarthria, global muscle weakness
and abolition of osteotendinous reflexes. She presented a CT
scan of the skull with no changes, as well as laboratory tests.
Biological material was collected for a new generation genetic
test that revealed Bailey Bloch Congenital Myopathy.

**Discussion:** The Congenital Bailey's Myopathy is an autosomal recessive disease caused by mutation in the STAC3 gene characterized by muscle weakness present since the first year of life, arthrogryposis, ptosis, myopathic face, short stature and susceptibility to course with malignant hyperthermia induced by anesthesia. Some of these characteristics were found in the patient and could have already led to the diagnosis in childhood and predicted the risk of malignant hyperthermia during the preoperative period.

**Final Comments:** After the diagnosis of Congenital Bailey Myopathy, the patient was referred to a center for neuromuscular diseases for follow-up with a multidisciplinary team, aiming symptomatic treatment and improvement of quality of life. Myopathies may go unnoticed for most of life when they do not make it difficult for the patient to perform activities of daily living. The present report aims to highlight the importance of suspecting congenital myopathies and pay attention to the risk of developing malignant hyperthermia.

ID: 731

Area: Neuromuscular diseases

Presentation method: Eletronic Poster

Limb-girdle muscular dystrophy type 2C: a case report

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

Abstract

**Case Presentation:** P.R.V, 9 years old, diagnosed in 2018 with Limb-Girdle Muscular Distrophy type 2 C (LGMD2C), associated with subclinical hypothyroidism, with altered thyroid stimulating hormone (TSH) levels, and electroneuromyography with a myopathic pattern. During early childhood, he presented unexplained fevers treated with medications that led to alterations in the aspartate aminotransferase and alanine aminotransferase enzymes and alterations in creatine phosphokinase. The family history includes a paternal aunt with amyotrophic lateral sclerosis. Pathogenic homozygous SGCG gene presenting the variant c525delT-ENST00000218867, with substitution of the phenylalanine in position 175 by a leucine, was identified in genetic screening.

**Discussion:** The LGMD2C is a progressive neuromuscular disease, hereditary, rare and heterogeneous, and the symptoms are related to the impairment of the pelvic girdle, scapular and proximal extremity muscles. The incidence of this disease is 2 to 10 per 100,000 people, affecting both sexes equally. This myopathy is expressed in several ways and with varying degrees of severity, and its cause is associated with the absence or inadequate formation of proteins. This amino acid change causes deficiency of the gamma-sarcoglycan protein and, consequently, muscle damage and degeneration.

<footnote n="1">¹Hospital Martagão Gesteira, Salvador BA, Brazil.</footnote>

<footnote>*Correspondence: victoriareis20.2@bahiana.edu.br</footnote>

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

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

<footnote n="3">³Universidade Federal do Acre, Rio Branco AC, Brazil.</footnote>

<footnote>*Correspondence: brubeyruth@hotmail.com.</footnote>
Symptoms may manifest in the first year of life or throughout early childhood and school life. The current classification of LGMD2C is based on the form of inheritance, which can be autosomal dominant (type 1) or autosomal recessive (type 2), and on molecular analyses. The drugs used in the treatment of LGMD2C aim to slow the progression of the disease but not to correct the genetic defect, and genetic counseling is recommended.

**Final Comments:** LGMD2C is a myopathy that causes functional disability in those affected. There is still no pharmacological treatment that aims at a cure, so the objective is to maintain the quality of life and provide functional independence to the patients. To this end, it is necessary to evaluate individuals affected by CMD in the same family to understand the evolution of the disease and develop a unique therapeutic plan.

ID: 732

Area: Others

Presentation method: Eletronic Poster

Melkersson-Rosenthal syndrome in a male pediatric patient: a case report

Fernando Silva de Oliveira<fnref n="1" />,<fnref n="2" />, Elizandra Leticia Vieira Terra<fnref n="1" />,<fnref n="2" />,
João Victor Macêdo da Cunha<fnref n="1" />,<fnref n="2" />, Jéssica Mayane Barbosa
Caixeta<fnref n="1" />,<fnref n="2" />, Pedro Vitor Portilho Santos<fnref n="1" />,<fnref n="2" />, Pedro Henrique
Daldegan Couto<fnref n="1" />,<fnref n="2" />, Paulo Emídio Lobão Cunha<fnref n="1" />,<fnref n="2" />, Isadora de
Oliveira Cavalcante<fnref n="1" />,<fnref n="2" />

*Correspondence: fernandounb22@gmail.com.

Abstract

**Case Presentation:** Male patient, 11 years old. The patient presents to the neurology service with right peripheral facial palsy, starting 20 days ago. It started with edema in the face, in the right hemiface, which followed in the later days with pain, cephaelia and right facial paralysis. He also reports that this is the third episode of facial paralysis, always peripheral, all on the right and all with the same characteristics. On a physical exam, it was observed right peripheral facial palsy, lagophthalmic right, lack of creases on the right hemiface and Labial rhyme deviation to the left. Reports family history of seizure, paternal part. Receives diagnostic impression of Melkersson Syndrome CID G51.2, by the findings of Peripheral Palsy of repetition since the 07 months of age and Angioedema. It was prescribed Carmellose sodium eye drops and eye patch to sleep for 10 days and a short cycle with corticoid (40mg). He is currently being followed up at the pediatric neurology service.

**Discussion:** Melkersson-Rosenthal syndrome is a rare neuro-mucocutaneous syndrome. It is characterized by the triad of recurrent orofacial edema, recurrent peripheral facial palsy, and fissured tongue. It often has oligosymptomatic or mono-symptomatic characteristics. The clinical diagnosis of this syndrome is suggested by the presence of at least two of the three classic features. In this case, the patient presented: Peripheral Palsy and recurrent orofacial edema. The pathogenesis of this condition is uncertain, which limits the success of treatment. So far there is no known satisfactory treatment. Corticosteroids, non-steroidal anti-inflammatory drugs and lymecycline have been used with satisfactory results with clofazimine, thalidomide, methotrexate and infliximab. The use of prednisone 40mg was prescribed for 5 days, to be used during crises, with no indication of other drugs, aiming at

reducing orofacial edema. However, due to the non-occurrence of a more recent consultation, the evolution of the case regarding the drug is not known.

**Final Comments:** Melkersson-Rosenthal syndrome is a relevant syndrome for clinical diagnosis, although complementary exams should be suggested to offer a differential diagnosis. There is a shortage of satisfactory treatments given the lack of knowledge about the pathogenesis of this condition. Emphasizing the use of corticosteroids, the most important for controlling the symptoms of this syndrome. Therefore, one should be aware of this pathology, especially in patients with orofacial edema.

ID: 733

Area: Malformations of the central nervous system

Presentation method: Presentation Poster

Infant mortality due to nervous system diseases in the Maranhão, Brazil: 2011–2020

Maria Eduarda Belo Lopes<fnref n="1" />, Jhonata Gabriel Moura Silva<fnref n="1" />,
Vinnycius Gabriell Moreira Sandes<fnref n="1" />, Ninivi Daniely Farias
Santos<fnref n="1" />, Samira Cristina Pacheco de Oliveira<fnref n="1" />, Lidia Hadassa
Dantas Freitas<fnref n="1" />, Camilla Kelly de Melo Fidelis<fnref n="1" />, José da Silva
Junior<fnref n="1" />, Eduardo Mariano Carvalho Silva<fnref n="1" />

*Correspondence: mariaeduardabelolopes@gmail.com.

Abstract

**Background:** Infant mortality is a public health problem worldwide, especially in developing countries. In these countries, diseases of the nervous system are one of the main causes of mortality in children.

**Objective:** To describe the epidemiological characteristics of infant mortality due to nervous system diseases in the state of Maranhão, Brazil, during the period from 2011 to 2020.

**Methods:** The data for this study were obtained from SIM, provided by the Ministry of Health of Brazil.

**Results:** During the analyzed period, a total of 1,087 deaths occurred, with the majority occurring in male children, representing 58.2% (639) of the cases. The age group most affected was between 10 and 19 years, 37.2% (409) of the deaths. There was a higher frequency of deaths among mixed-race children, representing 62.2% (677) of the cases. The majority of deaths occurred in a hospital setting, representing 70.6% (767) of cases. The nervous system disease most frequently associated with infant mortality, according to the categories of the CID-10, was cerebral palsy, representing 28.6% (311) of deaths. Other relevant diseases were hydrocephalus and other brain disorders, representing 16.02% (174) and 13.9% (152) of deaths, respectively.

**Conclusion:** Thus, the results demonstrate a relevant incidence of infant deaths due to nervous system diseases in the state of Maranhão, given the high number of deaths in male adolescents between the age group of 10 to 19 years and among brown children. These deaths also characterize a prevalence in hospital environments, with the main causes of mortality being cerebral palsy and hydrocephalus.

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

<footnote n="2">²Universidade de Brasília, Brasília DF, Brazil.</footnote>

<footnote n="1">¹Universidade Federal do Maranhão, Imperatriz MA, Brazil.</footnote>
ID: 734

Area: Neuropsychiatric disorders and
learning disorders

Presentation method: Presentation
Poster

Adaptive behavior in children with down syndrome: abas-3
validating evidences

Tamara Yamamoto<fnref n="1" />, Tally Lichtensztejn Tafla<fnref n="2" />*, Maria Cristina Triguero Veloz<fnref n="2" />, Tatiana Pontrelli Mecca<fnref n="2" />

Abstract

**Background:** Intellectual disability (ID) is characterized by significant limitations in intellectual functioning and adaptive behavior (AB), which has three major domains: conceptual, social and practical. For the correct diagnosis, assessment tools must be used for the objective evaluation of deficits in both intellectual and adaptive functions. However, there is a precariousness of tools that assess AB that has been subjected to a rigorous process of translation, cultural adaptation and adequacy based on evidence of validity. Currently, the gold standard is the Adaptive Behavior Assessment System – ABAS-3. It is known that Down Syndrome (DS), expresses a range of levels of ID, and consequently, of AB deficits.

**Objective:** Investigate the psychometric properties of ABAS-3 in a sample of school-age children with DS, comparing them with a sample of typical neurodevelopment children; compare the overall ABAS-3 score between the group with DS and the control group; verify the reliability of the scores in both groups, separately, and compare the scores between the specific ABAS-3 domains in the sample with DS to verify strength and weakness areas.

**Methods:** Parents filled in the Parent Form (5-21 years) of the ABAS-3. 15 children with DS aged 6 to 11 years composed the experimental group, excluding children who had symptoms of Autistic Spectrum Disorder. The control group consisted of 21 children with typical neurodevelopment, matched by age with the experimental group.

**Results:** Covariance analysis for comparing ABAS-3 scores between groups, controlling the effect of "type of school" (public/private) showed significant difference (p < 0.001) between groups for all ABAS-3 domains, with large effect size (partial η<fnref n="2" /> > 0.14) in all subdomains. Plus, the DS group had significantly lower scores in all domains. This data point to initial evidence of the validity of ABAS-3 criterion, since the instrument scores are sensitive in differentiating groups. Internal consistency analysis (mean of item-total correlations) in each ABAS-3 subscale showed Cronbach alpha values between 0.85 and 0.96 for all subscales.

**Conclusion:** Considering the international recommendations on the values of the instruments' reliability coefficients, it was observed that the consistency of the subscales are adequate, indicating low levels of measurement errors. Comparing the scores between groups, some similarity is noted in the pattern of strength and weakness areas, however the DS group kept lower scores.

ID: 735

Area: Inborn errors of metabolism

Presentation method: Eletronic Poster

Krabbe disease: a case report

Ádem Ferreira Nascimento<fnref n="1" />, Bruna Cruz Borges Beyruth<fnref n="2" />*,
Flávia Pereira Souza Dias<fnref n="2" />, Eduardo Sá Paulo Carvalho<fnref n="1" />,
Bethania Freitas Rodrigues Ribeiro<fnref n="2" />, Larissa Maria Paula
Rebouças Costa<fnref n="2" />, Thais Roberta Janson Gonçalves<fnref n="2" />, Pedro Lucas
Gomes Lima<fnref n="2" />

Abstract

**Case Presentation:** Patient T.A., 4 months old, male, natural from Rio Branco, Acre, seeks emergency in unit, on the state of Acre, with irritability, intense and persistent crying. Admitted with tachycardia, satO2 92%, administered amikacin and symptomatic for 10 days with improvement in respiratory condition. Ten days after discharge, the patient had sudden fever, generalized hypotonia, seizures and regression of neuromotor development after the 3rd month, which became more evident over the next months, raising the hypothesis of genetic syndrome and epilepsy to be clarified in the 5th month, it was asked for a magnetic resonance imaging of the skull, complete exome and medical discharge using clonazepam and phenobarbital to control the seizures. The resonance showed cerebral atrophy, diagnosing him with Krabbe's disease, at 7 months. In the 8th month, a gastrostomy was performed due to dysphagia, and tracheostomy was indicated, but the mother preferred not to undergo the surgery at that moment, with hospital discharge after 1 month after the procedure using phenobarbital, oxcarbamazepine and clobazam. After 10 months, the patient evolved with desaturation, tachypnea and excessive secretion- the tracheostomy was performed and the patient was discharged after 20 days with medications already used. The patient continues to be followed up by a multidisciplinary team.

**Discussion:** Krabbe's disease, or globoid cell leukodystrophy, is a genetic syndrome with a rare autosomal recessive pattern, affecting 1:100,000 live births. It presents clinical manifestations before 6 months of life, such as delay in motor development, seizures, dysphagia, blindness and deafness, culminating in irritability and intense crying. There aren't many cases in Amazon region, and the diagnosis, due the lack of infrastructure, are delayed, which influences in the patient outcome. There is no specific pharmacological treatment, thus the aim is to provide a better quality of life and survival time, treating the symptoms. In this case with anticonvulsants and gastrostomy and fundoplication surgeries for better nutritional therapy and tracheostomy for better respiratory comfort.

**Final Comments:** Krabbe's disease is a genetic syndrome with an autosomal recessive pattern, thus counseling and genetic mapping of the family of these patients are important.

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

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

<footnote>*Correspondence: tafla.tally@gmail.com.</footnote>

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

<footnote n="2">²Universidade Federal do Acre, Rio Branco AC, Brazil.</footnote>

<footnote>*Correspondence: brubeyruth@hotmail.com.</footnote>
ID: 737

**Area: Neuropsychiatric disorders and learning disorders**

**Presentation method: Eletronic Poster**

**Prevalence and sociodemographic correlates of psychiatric and neurodevelopmental disorders and mental health problems among children and adolescents from a local health center in the South of Brazil**

Carolina Correia Abati<fnref n="1" />, Lygia Maria Portugal Oliveira<fnref n="1" />, Flavia Caroline Figel<fnref n="1" />

¹Universidade Federal do Paraná, Curitiba PR, Brazil.

*Correspondence: carolinacorreiaabati@gmail.com.

**Abstract**

**Background:** The identification of factors associated with psychopathology in childhood is necessary for the planning of effective interventions and to equip professionals to adequately deal with regional morbidity.

**Objective:** To describe the local prevalence of psychiatric and neurodevelopmental disorders and mental health problems in childhood and adolescence and their associated factors.

**Methods:** This is a descriptive survey of data collection. The medical records of 42 users aged between 3 and 14 years, who underwent medical and psychological follow-up at a municipal outpatient clinic, were consulted. The analysis categories were the characteristics of the child, guardians and environment and for all these variables, the absolute and relative frequency was performed, with statistical comparisons performed using the chi-square test for adjustment control, with level of 5% significance level. Analyses were performed using the XLSTAT® software.

**Results:** The primary complaints among children were changes in family dynamics (23.81%), abuse and neglect (21.43%), disruptive behavior (19.05%) and anxiety symptoms (11.90%). The most frequent secondary complaints were disruptive behavior (52.17%), anxiety symptoms (21.74%), depressive symptoms (13.04%), self-injurious behavior (8.70%) and mixed symptoms (4.35%). The most frequent previous diagnoses (11.90%) were Epilepsy and Attention Deficit Hyperactivity Disorder (ADHD), followed by Oppositional Defiant Disorder (ODD) (9.52%), Encopresis and Autism Spectrum Disorder (ASD) (4.76%). Combining the possible determining agents, it can be seen that child + parents + environment contributes with 78.70% for the occurrence of complaints, this being the highest value, indicating that such symptoms have a multifactorial origin.

**Conclusion:** Knowing the local prevalence factors and its risk makes it possible to qualify mental health care, emphasizing expanded care, territorially and community-based, which includes parents, caregivers and family members involved in the child's dynamics. The data reaffirm the voice of preventive programs from early childhood.

ID: 738

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

**Presentation method: Presentation Poster**

**X-linked hydrocephalus in a male pediatric patient: two case reports**

Fernando Silva de Oliveira<fnref n="1" />*, Jéssica Mayane Barbosa Caixeta<fnref n="1" />, Pedro Vitor Portilho Santos<fnref n="1" />, Pedro Henrique Daldegan Couto<fnref n="1" />, Elizandra Leticia Vieira Terra<fnref n="1" />, João Victor Macêdo da Cunha<fnref n="1" />, Jeanne Alves de Souza Mazza<fnref n="2" />, Lisiane Seguti Ferreira<fnref n="2" />, Isadora de Oliveira Cavalcante<fnref n="2" />

*Correspondence: fernandounb22@gmail.com.

**Abstract**

**Case Presentation:** We present two cases of male patients followed at a Child Neurology service with a diagnosis of hydrocephalus due to a mutation in the L1CAM gene. The first patient, at 7 months of age, was diagnosed with hydrocephalus intrauterinely by ultrasound, requiring intrauterine and post-natal surgical intervention. He evolved with epileptic seizures on the third day of life. Currently, for seizure control, he uses phenobarbital and levetiracetam. On physical examination, he presents with axial hypotonia and appendicular hyperreflexia, with discoric pupils and coloboma. A brain MRI was performed, which indicated hydrocephalus, extensive dysgyria and aqueductal stenosis. Based on the MRI result, X-linked hydrocephalus was established as the main hypothesis, which was confirmed after verification of the L1CAM gene mutation. The second patient, admitted at 8 months of age, was also referred for epileptic seizures and had a previous diagnosis in utero of hydrocephalus. He was treated effectively with valproate acid. Cranial tomography was performed at birth with evidence of hydrocephalus and stenosis of the aqueduct of Sylvius. A specific genetic test was performed and confirmed the mutation of the L1CAM gene.

**Discussion:** The X-linked hydrocephalus (XLH) is a rare X-linked recessive genetic disease which predominantly affects male patients during fetal development. This clinical condition is caused by a mutation in the L1CAM1 gene on X chromosome, which codifies the neural cell adhesion molecule L1, playing a role in the development and maintenance of the nervous system. The gene mutation, therefore, compromises the development of the nervous system, leading to hydrocephalus, which affects brain structure and function and causes symptoms such as headache, hypoactivity and seizures.

**Final Comments:** Infant hydrocephalus is a relevant clinical condition, the early diagnosis of which enables a better prognosis. If not treated properly, hydrocephalus can lead to irreversible brain damage, directly affecting the patient's quality of life. Adequate follow-up using a multidisciplinary approach, involving neurologists, neurosurgeons, physiotherapists and other health professionals can prevent or treat possible neurological complications. Genetic counseling is also important, as the disease is hereditary. Therefore, due to the rarity of the case, more research and efforts are needed to understand and treat this relevant clinical condition.

ID: 739

**Area: Neurogenetics**

**Presentation method: Presentation Poster**

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

<footnote n="2">²Hospital Universitário de Brasília, Brasília DF, Brazil.</footnote>
**Early-onset epileptic-dyskinetic encephalopathy due to a
novel indel compound heterozygous pathogenic variant in
UBA5**

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

**Abstract**

**Case Presentation:** A full-term female was born via cesarean birth with no complications. At four months old, she developed frequent focal tonic seizures with concurrent regression of motor skills. She lost cephalic sustain and tracking abilities in the following months and also developed progressive failure to thrive. Her neurological examination showed axial hypotonia with appendicular hypertonia and tendon reflex were 3+/4 globally. She also had poor visual fixation and displayed choreoathetosis and dystonic posture during examination. She had microcephaly and mild facial dysmorphisms, such as a slightly upturned nose and mild hypertelorism. General labs and screening for metabolic diseases were negative, and her brain MRI at 6 months old was normal. There was a high index of clinical suspicion of an epileptic-dyskinetic encephalopathy, so a genetic test was performed and resulted in a compound pathogenic heterozygous variant in UBA5: a missense variant, c.1111G>A; p. (Ala371Thr); allele frequency of 0.116% and a frameshift variant c.36_37delCC.

**Discussion:** Ubiquitin-like modifier-activating 5 (UBA5) encodes an enzyme that mediates conjugation of the ubiquitin fold modifier 1 (UFM1) to intracellular proteins. This post-translational modification is implicated in cellular stress response and, consequently, in breast cancer development and several neurological syndromes. Seizures were described in 87.5% and movement disorders were described in 83% of UBA5 related encephalopathy. Collin et al. and Daida et al. reported six patients with UBA5 variants and early-onset encephalopathy; in their reports, severe motor skill disability, microcephaly, and failure to thrive were observed in all cases. Briere et al. described five patients with compound heterozygous in UBA5 causing movement disorders and epilepsy. One of them without microcephaly. All had the recurrent c.1111G > A (p.Ala371Thr) variant in trans with a second missense UBA5 variant. Our patient had the same c.1111G>A variant, but associated with a novel pathogenic deletion UBA5:c.36_37del, not previously described.

**Final Comments:** UBA5 biallelic mutations should be considered in patients with epileptic-dyskinetic encephalopathy, especially if presenting with acquired microcephaly, early-onset epileptic encephalopathy and dystonic-choreoathetotic movements.

ID: 740

**Area: Neuromuscular diseases**

**Presentation method: Eletronic Poster**

**Safety and efficacy of ataluren in nmDMD patients from
study 041, a phase 3, randomized, double-blind, placebo-
controlled trial**

Craig M. McDonald<fnref n="1" />, Ana Paula Carneiro<fnref n="2" />, Daiana Suelen Machado, Andressa Federhen<fnref n="2" />, Matthew Klein<fnref n="3" />

**Abstract**

**Background:** Study 041 (NCT03179631) is an international, phase 3, randomized, double-blind, placebo controlled 72-week ataluren trial in patients with nonsense mutation Duchenne muscular dystrophy (nmDMD) followed by a 72-week open-label period. Here, we describe efficacy and safety results from the placebo-controlled phase.

**Objective:** To determine ataluren's effect on ambulatory function, assessed by the 6-minute walk test.

**Methods:** Boys with nmDMD aged ≥5 years, on corticosteroids, and with a 6-minute walk distance (6MWD) ≥150m were eligible. Boys were randomized 1:1 to ataluren: placebo. The intention-to-treat (ITT) population comprised randomized boys who received ≥1 dose of study treatment. Predefined subgroups included boys with ≥300m 6MWD and ≥5s stand from supine (primary) and those with 300-400m 6MWD.

**Results:** Ataluren and placebo groups in the ITT population and key subgroups were balanced according to enrolment age, baseline 6MWD, corticosteroid use and time to stand from supine. Significant differences in mean 6MWD change from baseline and rate of change favored ataluren in the ITT population (14.4m; 0.20m/week; p=0.0248) and 300-400m 6MWD subgroup (24.2m; 0.34m/week; p=0.0310), representing a 21% and 30% slowing of the decline rate in 6MWD in these groups, respectively. There were significant treatment benefits in time to 10% worsening of 6MWD. The number of ITT patients who lost ambulation receiving placebo was almost double that of those receiving ataluren. Atrialen was well tolerated, had no probable drug-related serious adverse events (AEs), and AE frequency (85.3%) was similar to placebo (84.7%).

**Conclusion:** Study 041 confirms ataluren's favorable risk-benefit as shown in previous clinical and real world evidence studies.

ID: 744

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

**Presentation method: Presentation
Poster**

**Epidemiological profile of multiple sclerosis in children
under 10 years of age: Brazilian panorama from 2012 to
2022**

Kevin Gustavo Dos Silva<fnref n="1" />

**Abstract**

**Background:** Multiple sclerosis (MS) is an immunological disease that leads to demyelination, neurodegeneration and chronic inflammation of the central nervous system. Approximately 2-10% of individuals with MS experience their first episode as a child. MS progresses with fatigue, depression, seizures, impaired mobility and cognition. Studies around the world have shown that the diagnostic criteria for MS in the pediatric population have evolved considerably in the last decade, which contributes to early diagnosis.

<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">¹University of California Davis School of Medicine, Sacramento, California, United States.</footnote>

<footnote n="2">²PTC Therapeutics Brazil, São Paulo SP, Brazil.</footnote>

<footnote n="3">³PTC Therapeutics Inc., South Plainfield, New Jersey, United States.</footnote>

<footnote>*Correspondence: dmachado@ptcbio.com.</footnote>

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

<footnote>*Correspondence: kevingustavo30@gmail.com.</footnote>
**Objective:** To determine the panorama of Multiple Sclerosis cases in the Brazilian pediatric population.

**Methods:** This is an epidemiological and retrospective study. The database used was the Department of Informatics of the Sistema Único de Saúde (DATASUS). Data were collected on April 23, 2023. In DATASUS, the field "Epidemiological and morbidity" was selected, and later, "SUS Hospital Morbity (SIH/SUS)". Then, the option "General, by place of residence - from 2008 onwards" was chosen and as Geographic Coverage "Brazil by Region and Unit of the Federation". The period analyzed comprises January 2012 to December 2022. Then, in the CID-10 morbidity list, the modality "Multiple sclerosis" was chosen. The "year of service" option was selected in the "line" field. After these selections, the categories "gender", color/race" and "age group" were used. Patients aged up to 9 years were included. After collection, a percentage analysis of the acquired data was performed.

**Results:** In total, 96 hospitalizations were recorded in the period, 58.33% female and 41.66% male. As for race, 46.87% were brown, followed by 36.45% white, 15.625% unregistered and 1.04% black. The vast majority (91.66%) were aged between 5 and 9 years, followed by 1 to 4 (6.25%) and less than 1 year (2.08%). Regarding the location, the Southeast region concentrated the majority of admissions (56.25%), followed by the Northeast (19.79%), Midwest (13.54%), South (6.25%) and North (4.16%).

**Conclusion:** The epidemiological profile of Multiple Sclerosis in children under 10 years old in Brazil is the girl, brown, aged between 5 and 9 years old and residing in the southeast of the country.

ID: 746

Area: Neuromuscular diseases

Presentation method: Eletronic Poster

**The efficacy of Nusinersen treatment in children with spinal muscular atrophy: a systematic review**

Thais Silva Oliveira<fnref n="1" />, Syria Beatriz Portela Darub<fnref n="1" />, Clarice Viudes Abreu<fnref n="1" />, Márcio Batista Silva Júnior<fnref n="1" />, Caroline Freitas Mendes<fnref n="1" />, Gabriel Souza Torres<fnref n="1" />, Bruna Cruz Beyruth Borges<fnref n="1" />, Aluilde Moura Oliveira Junior<fnref n="1" />

*Correspondence: thais.soli21@gmail.com.

**Abstract**

**Background:** Spinal muscular atrophy (SMA) is a degenerative neuromuscular genetic disorder characterized by the progressive loss of spinal and brainstem motor neurons. Nusinersen has allowed an increase in life expectancy of SMA type 1 patients and provided the acquisition of milestones of motor development.

**Objective:** To analyze the efficacy of Nusinersen treatment in children with spinal muscular atrophy.

**Methods:** A literature review was carried out using the descriptors: Spinal; Muscular; Atrophy; Nusinersen; Treatment; Pediatric and the Boolean operator "AND". The databases used were Pubmed, BVS and Scielo, adding the Free Full Text filter and restricting it to the period between 2010 and 2023, reaching 141 results in Pubmed. From these, 15 were selected by title. In the Virtual Health Library, 5 articles were selected by title, while in Scielo, 6 were selected by title. The final selection consisted of 26 articles, including randomized clinical trials, meta-analyses, systematic reviews and review, with publication data in the last 13 years.

**Results:** The main randomized clinical studies showed an improvement in motor results in children with SMA manifested by treatment with Nusinersen, in addition to an improvement in quality of life and nutritional support. Thus, after the institution of drug therapy, there was a greater differentiation in the age of infant death and the need for long-term ventilation. Nusinersen was also able to reduce mortality in children who weren't in long-term ventilation, as well as increase the development of motor functions in SMA types 1 to 3. It was shown that, if the medication is instituted before the child develops symptoms, there is a better prognosis in relation to motor movements. The final results showed that 57% of the children who received Nusinersen had improvement in motricity compared to 26% of the control group, from the beginning of the treatment until the 15th month of follow-up. The incidence of adverse effects was similar in the control group and in the Nusinersen group.

**Conclusion:** Treatment with Nusinersen proved to be efficient in children with SMA, helping with motor activity and respiratory support, allowing a better quality of life.

ID: 747

Area: Malformations of the central nervous system

Presentation method: Eletronic Poster

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

Jhonata Gabriel Moura<fnref n="1" />, Maria Eduarda Belo Lopes<fnref n="1" />, Lorena da Silva Viana<fnref n="1" />, Lucas Vinicius de Oliveira Castro<fnref n="1" />, Eduardo Henrique Ribeiro da Silva<fnref n="1" />, Layla Luiza de Abreu Duailibe<fnref n="1" />, Lays Saraiva Rodrigues Carvalho<fnref n="1" />, Caio dos Santos Souza<fnref n="1" />, Eduardo Mariano Carvalho Silva<fnref n="1" />

*Correspondence: mariaeduardabelolopes@gmail.com.

**Abstract**

**Background:** Congenital anomalies of the nervous system are an important public health problem worldwide, and their prevalence has been increasing in recent decades.

**Objective:** To describe the epidemiological characteristics of congenital anomalies of the nervous system in the state of Maranhão, Brazil, during the period from 2011 to 2020.

**Methods:** This is a descriptive, retrospective study based on secondary data collected from the SINASC database. The target population of this study is all live births registered from 2011 to 2020.

**Results:** A total of 1.126,441 live birth records in SINASC from 2011 to 2020 were analyzed, of which 960 (0.08%) had a diagnosis of congenital anomalies of the central nervous system. Regarding the ethnicity of the mothers, the majority were pardas (mixed race), 752 (78.3%). The most common maternal age group was between 20 and 24 years old. Most mothers had 8 to 11 years of education, 637 (66.3%). The majority of mothers were married or living in a stable union, 551 (57.4%). Most pregnancies were single, 930 (96.8%). The majority of mothers had adequate prenatal care, 354 (36.8%), with the majority of them having between 3 to 6 prenatal visits, 404 (42%). Regarding the newborns, most pregnancies lasted between 37 to 41 weeks, 602 (62.7%) of the cases. The majority of deliveries were by caesarean section, 656 (68.3%). Of the newborns analyzed, 310 (32.3%) had a weight between 3000 and 3999 g, which was the most common weight range at birth.

<footnote n="1">¹Universidade Federal do Acre, Rio Branco AC, Brazil.</footnote>

<footnote n="1">¹Universidade Federal do Maranhão, Imperatriz MA, Brazil.</footnote>
**Conclusion:** Thus, it is noted that despite the low prevalence of congenital anomalies of the nervous system, the analysis of the indices surrounding this dilemma is essential for planning public health policies. In addition, it was observed that most of the cases recorded were primigravida mothers, with a higher prevalence in black ethnic mothers. Furthermore, the prevalence of cesarean deliveries compared to vaginal deliveries is noteworthy

ID: 748

Area: Neuromuscular diseases

Presentation method: Presentation
Poster

Duchenne muscular dystrophy: updates on corticosteroid
treatment

Gabriel Souza Torres<fnref n="1" />, Carolina Freitas Mendes<fnref n="1" />, Márcio Batista Silva Júnior<fnref n="1" />, Aluildo Moura Oliveira Júnior<fnref n="1" />, Clarice Viudes Abreu<fnref n="1" />, Syria Beatriz Portela Darub<fnref n="1" />, Thaís Silva Oliveira<fnref n="1" />, Ádem Ferreira Nascimento<fnref n="2" />

Abstract

**Background:** Corticosteroids are the current standard of care for patients with Duchenne Muscular Dystrophy (DMD), an X-linked recessive dystrophinopathy that causes muscle weakness, atrophy and premature death from cardiorespiratory complications. Corticosteroids are the only medication that so far has effectively altered the natural history of the disease and those that have evolved both in terms of safety and efficacy are the focus of this review.

**Objective:** To review the advances related to corticosteroid treatment and its effects on patients with DMD and to describe the different types of corticosteroids and compare them in terms of their effectiveness.

**Methods:** A systematic review was carried out in the Pubmed, Scielo, BVS and Web of Science databases with the descriptors duchenne, treatment and corticosteroids. Exclusion criteria: samples with non-humans, focus on treatments other than corticosteroid therapy, duplicates, not written in English or Portuguese and articles that have not been published in the last 5 years. Of 993 studies, 28 were included.

**Results:** The described options for corticosteroids were Prednisone, Deflazacort and Valmorolone. The benefits include increased survival, later loss of ambulation, maintenance of upper limb function, reduced incidence of severe scoliosis, and improved cardiopulmonary function. Prednisone was the first disease-modifying agent found to improve motor function. Adverse effects observed were bone loss, behavioral changes, weight gain, upper respiratory tract infections, and vomiting. Deflazacort was better tolerated due to being associated with fewer adverse effects of weight gain than Prednisone, facilitating ambulation. However, it presents growth deceleration, development of non-severe cataracts and reduction in serum levels of collagen I. Valmorolone has shown reduced side effects, such as improved bone profile without a decrease in bone turnover markers. However, it was observed that all three medications lead to increased adrenal insufficiency. There is evidence of positive effects in corticosteroid therapy. Adverse effects have been described, such as bone loss.

**Conclusion:** New medications such as Valmolorone present greater benefits by reducing adverse effects. The mechanisms

of action for different dosage regimens are beginning to be
understood in preclinical models, so further studies are
necessary to expand the treatment of DMD.

ID: 750

Area: Neurogenetics

Presentation method: Eletronic Poster

Helsmoortel-Van Der Aa syndrome: a case report

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

Abstract

**Case Presentation:** BAGF, age 3, male, born at 37 weeks 3 days of gestational age, vaginal delivery, weighing 2,700 g, 45 cm in length, 35 cm in head circumference, Apgar score of 8/9. At birth, coloboma iris (left), bilateral inguinal hernia and bilateral cryptorchidism were noted. Neural tube defect was suspected; however, magnetic resonance imaging of head and neck and optical nerve were unremarkable, as was his echocardiogram. He initiated follow-up at a tertiary hospital clinic with 10 months of age, presenting with neuropsychomotor developmental delay: responded intermittently to his name, complete cephalic support had just been acquired, did not transfer objects between hands, lallation phase of language. Poor growth and weight gain. Family history was notable for an older brother with delayed language development. On physical examination short halluces, small head, malar flatness, hooded eyelids, broad nasal bridge, round nasal tip, rounded low-set ears were noted, as were bilateral convergent strabismus, truncal ataxia, inability to support oneself while sitting, decreased muscle tone in the axial spine and discrete increase in appendicular muscle tone. Karyotype study revealed 46, XY chromosomes; genetic microarrays were also normal. Ultimately, exoma sequencing revealed a pathogenic in the ADNP gene, allowing for a diagnosis Helsmoortel-Van Der Aa Syndrome or ADNP syndrome.

**Discussion:** ADNP syndrome is rare, with point prevalence estimated 1-9/100,000 individuals; additionally, it represents an estimated 0.17% of autism spectrum disorder (ASD) cases. The phenotype includes intellectual disability (ID), delays in speech and motor development, as well as behavioral problems. While ADNP patients have higher rates of ID, they present less severe social affect symptoms compared to ASD. Other ADNP symptoms may include seizures, distinct dysmorphic facial features, sensory problems, autistic traits and hypotonia. Congenital heart defects and short stature are also apparent. About 80% of children with ADNP mutations present early deciduous dentation.

**Final Comments:** Exome sequencing or specific ADNP gene sequencing is required for diagnosis. Some similarities are found with Okihiro, Angelman, Rett and Noonan syndrome, as well as other less common disorders. Supportive care is recommended through speech, occupational, and physical therapy, plus individualized learning programs; support for neuropsychiatric, nutritional/hormonal, cardiac, ophthalmologic and auditory findings are also recommended.

<footnote n="1">¹Universidade Federal do Acre, Rio Branco AC, Brazil.</footnote>

<footnote n="2">²Centro Universitário Uninorte, Rio Branco AC, Brazil,</footnote>

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

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

<footnote>*Correspondence: andre-Augustocf@hotmail.com.</footnote>
ID: 751

Area: Neurogenetics

Presentation method: Eletronic Poster

Eladocagene exuparvovec gene therapy improves motor
development in patients with aromatic L-amino acid
decarboxylase deficiency

Paul Wuh-Liang Hwu<sup>1,2,3</sup>, Yin-Hsiu Chien<sup>1,2,3</sup>, Ni-Chung Lee<sup>1,2,3</sup>, Panayiota Trifillis<sup>1,2,3</sup>, Pedro Eugenio Pachelli<sup>1,2,3*</sup>, Luciana Giugliani<sup>1,2,3</sup>, Andressa Federhen<sup>1,2,3</sup>, Chun-Hwei Tai<sup>1,2,3</sup>

Abstract

Background: Aromatic L-amino acid decarboxylase (AADC) deficiency is caused by mutations in the DDC gene reducing AADC enzyme activity causing motor and neurodevelopmen- tal impairments.

Objective: Evaluate clinical outcomes in children with AADC treated with Eladocagene exuparvovec, recombinant adeno- associated viral vector serotype 2 carrying the coding se- quence for AADC enzyme.

Methods: Therapy was infused bilaterally in the putamina of 30 patients aged 18–102 months receiving 1.8 × 10¹<fnref n="1" /> vg (n=21) or 2.4 × 10¹<fnref n="1" /> vg (n=9) followed for up to 120 months assessed using PDMS-2 key motor milestones including head control (partial or full), sitting (supported or independently), standing (with/away from support; up from cross-legged position), and walking (with/without assistance; 10 feet; taped line). Motor milestones were measured every 3 months for 1 year following gene therapy, then every 6–12 months for ≤120 months. Data extracted on January 4, 2022.

Results: At baseline, no patients had mastered head control or more advanced milestones. At year 1 of follow-up, patients were gaining the following skills (n): partial head control (26); full head control (15), sitting unassisted (7), supported standing (2). Progression of development was noted at years 5 and 10. By year 5 of follow-up, more advanced milestones were achieved (n): full head control (24), sitting unassisted (21) assisted walking (5), walking 10 feet (3), or walking upstairs (3). These abilities were maintained for as long as 10 years.

Conclusion: The data indicates that eladocagene exuparvovec
can provide a durable, positive impact on motor development
in patients with AADC deficiency.

ID: 753

Area: Neuromuscular diseases

Presentation method: Presentation
Poster

Natural history of LAMA2 related dystrophies

Clara Gontijo Camelo<fnref n="1" />*, Mariana Cunha Artilheiro<fnref n="1" />, Cristiane Araujo Martins Moreno<fnref n="1" />, Alulin Tácio Quadros Monteiro Fonseca<fnref n="1" />, Rodrigo Holanda Mendonca<fnref n="1" />, Andre Macedo Serafim da Silva<fnref n="1" />, Umbertina Conti Reed<fnref n="1" />, Edmar Zanoteli<fnref n="1" />

Abstract

Background: LAMA2-related dystrophies (LAMA2-RD) repre-
sent a rare neuromuscular disorder with a wide spectrum of
phenotype severity, ranging from mild to severe.

Objective: To establish disease natural history, we performed a cross-sectional study of LAMA2-RD through motor function and pulmonary tests.

Methods: Fourty-four individuals with LAMA2-RD were in-
cluded and were evaluated through functional outcome
measures (MFM32, RULM, goniometry and Forced Vital Ca-
cacity (FVC)).

Results: The most frequent phenotype presentation was non-
ambulatory (N=36, 81.8%), while eight patients (18.2%) were
able to walk. Non-ambulatory group presented a more severe
progression of disease. Non-ambulatory patients had a 1.85%
decrease in FVC/year, against 0.98%/year among ambulatory
patients. In the non-ambulatory group, there was a 4.2% drop/
year in MFM32-D2 domain (p<0.00001), a 2.6% drop/year in
D3 domain (p<0.0001), and a 2.7% drop/year in the MFM32
global assessment (p<0.0001). However, the evaluation of
upper limb function, in both groups, didn't show statistically
significant reduction. In the non-ambulatory group elbow
and knee retractions worsened 3.22 degrees/year
(p=0.00087) and 1.92 degrees/year, respectively. While those
patients who acquired gait, elbow and knee retractions
worsened 1.41 degrees/year (p=0.0003) and 1.95 degrees/
year (p=0.01), respectively.

Conclusion: This study confirmed the progressive nature of LAMA2-RD, both in ambulant and non-ambulant patients. MFM32, FVC and goniometry were identified as promising outcome measures for natural history studies and clinical trials in LAMA2-RD.

ID: 754

Area: Neuromuscular diseases

Presentation method: Oral Presentation

Genetic profile of LAMA2-related muscular dystrophy
patients in a large Brazilian cohort

Clara Gontijo Camelo<fnref n="1" />*, Cristiane Araujo Martins Moreno<fnref n="1" />,
Alulin Tácio Quadros Monteiro Fonseca<fnref n="1" />, André Luiz Santos
Pessoa<fnref n="1" />, Juliana Gurgel Gianetti<fnref n="1" />, Jonas Alex Morales Saute<fnref n="1" />,
Fernando Kok<fnref n="1" />, Helio Van Der Linden<fnref n="1" />, Edmar Zanoteli<fnref n="1" />

Abstract

Background: LAMA2-related muscular dystrophy (LAMA2-RD) is an autosomal recessive disease caused by mutations in the LAMA2 gene. It varies in severity, from a severe form of congenital muscular dystrophies (CMD-LAMA2) - in which most patients never achieve walking capacity - to a more rare and less severe form of limb-girdle muscular dystrophy (LGMD-23).

Objective: To describe and establish genotype-phenotype
correlations in a large Brazilian cohort.

Methods: Clinical and genetic data of LAMA2-RD patients enrolled from six research centers (FMUSP, Escola Paulista de Medicina, FMUFMG, Hospital de Clínicas de Porto Alegre, FHEMIG, Hospital Infantil Albert Sabin) between March 2018 and April 2023 were collected and analyzed.

Results: One hundred and twelve patients were included: 79 (75.2%) patients never achieved walking capacity, and 26 (24.8%) patients were able to walk. 84 patients were submitted to brain MRI, and from those 12 patients (14.2%) presented with cortical malformations (polymicrogyria,

<footnote n="1">¹National Taiwan University Hospital, Taiwan.</footnote>

<footnote n="2">²PTC Farmacêutica do Brasil LTDA, São Paulo SP, Brazil.</footnote>

<footnote n="3">³PTC Therapeutics Inc; United States.</footnote>

<footnote>*Correspondence: ppachelli@ptcbio.com.</footnote>

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

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

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

<footnote>*Correspondence: claragc@gmail.com.</footnote>
lissencephaly-pachygyria, and cobblestone), 12 patients (14.2%) presented with epilepsy, and 8 (9.5%) had intellectual disability. We found 46 distinct mutations and twenty-two variants were novel (52%). The top three high-frequency disease-causing variants in Brazilian patients were: 1) c.1255del (p.Ile419Leufs*4) in 22 patients; 2) c.2461A>C (Thr821Pro) in 15 patients and 3) c.3976C>T (p.Arg1326*). The frameshift variant c.1255del (p.Ile419Leufs*4) was never published and is probably a founder mutation in Brazil, with all patients unable to walk. All the 15 patients with at least one c.2461A>C (Thr821Pro) mutation were able to walk. Null variants were more frequent in LAMA2-CMD (56.9%) than in LGMDR23 (21.4%), while missense disease-causing variants were more frequent in LGMDR23 than in LAMA2-CMD (P = .0072; OR:6.48). One intronic variant never published (c.4960-17C>A) was found in four patients, one in homozygous. A functional study was performed using muscle biopsy and revealed the presence of the transcript r.4959_4960ins [4960-15_4960-1], which affects intron 34. This transcript is out-of-frame (p.Arg1653_Ala1654insAsnLeuAspHisTer) and creates a different splicing site.

**Final Comments:** This study provides better understanding of genotype-phenotype correlations in LAMA2-related muscular dystrophy and supports therapeutic targets for future research.

ID: 755

**Area: Neuroinfections**

**Presentation method: Eletronic Poster**

**Acute spinal cord syndrome secondary to medullary epidural empyema: case report**

Maria Beatriz Bravin<fnref n="1" />, Gabriela de Castro Fim<fnref n="1" />, Lucas Barbosa Napolitano de Moraes<fnref n="1" />, Lara Cristina Antunes dos Santos<fnref n="1" />, Augusto Ventura Ceranto<fnref n="1" />, Bruna Eugenia Gomes Felipe<fnref n="1" />, Lethícia Nogueira Santos Barreto<fnref n="1" />, Heloisa Carolina Massucato Bravin<fnref n="1" />, Mirelle Tristao De Souza<fnref n="1" />

*Correspondence: beatriz_pva@hotmail.com.

**Abstract**

Epidural empyema has a prevalence of 1 in 20,000 hospital admissions, being an uncommon infectious entity. The reported case addresses the clinical evolution of an adolescent with acute medullary signs secondary to medullary epidural empyema compression as a complication of acute meningitis.

**Case Presentation:** JGR, 13 years old, previously healthy, was admitted to the emergency service complaining of changes in lower limb movements, urinary retention and headache that started 5 days ago, hyaline coryza, hyperthermia (not measured) for 7 days and no history of previous trauma. On physical examination, he presented flaccid and symmetrical paresis and absence of osteotendinous reflexes in the lower limbs, and presence of kerning and brudzinski meningeal signs. Contrast-enhanced cranial tomography showed no signs of intracranial hypertension and liqueur puncture showed infectious signs and isolation of Streptococcus pneumoniae in culture. However, in the MRI findings of the spinal cord, epidural empyema with compression at the lumbosacral level and cauda equina was identified. Treatment was initiated according to an antibiogram with progressive remission of signs and symptoms in 15 days. The unusual aspect in this case is related to the rapid evolution to epidural empyema in a young and previously healthy patient.

**Discussion:** Medullary epidural empyemas are usually related to bacteremia or direct extension of a nearby infectious focus, but rarely result from complications of acute meningitis or lumbar puncture, as they are manifested by a painful and febrile medullary syndrome, usually subacute. The diagnosis is made through imaging and the gold standard treatment is based on prolonged antibiotic therapy and surgical drainage in the indicated cases.

**Final Comments:** Therefore, it is concluded that epidural empyema should be considered in cases of bacterial meningitis, since it proves to be a diagnostic and therapeutic challenge, given its nonspecific clinical and laboratory signs and, even though it is a rare complication, it should be investigated in patients with acute spinal cord syndrome and infectious signs

ID: 756

**Area: Cerebrovascular diseases and intensive care in child neurology**

**Presentation method: Eletronic Poster**

**The challenge of anticoagulation in sinus venos thrombosis: case report**

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

¹Hospital Pequeno Príncipe, Curitiba PR, Brazil.

*Correspondence: lisandra.coneglian@gmail.com.

**Abstract**

**Case Presentation:** P.H.S, 14 years old, previously healthy, with acute headache and hypotension. Progressed with right dimension hemiparesis within 24 hours. Neuroimaging-cranial tomography was performed, suggesting the hypothesis of ischemic stroke. Subsequent nuclear magnetic resonance imaging of the skull identified venous sinus thrombosis (CSVT) with hemorrhagic venous infarcts, and anticoagulant treatment was initiated with enoxaparin 1mg/kg/dose 12/12 hours. Three days later, he started with chest pain, a chest image showed pulmonary thromboembolism. Anticoagulation has been maintained since the onset of the condition. In the etiological investigative process, alteration in antiphospholipid antibody was identified with the hypothesis of antiphospholipid antibody syndrome.

**Discussion:** CSVT is a rare form of stroke with a high mortality rate. The incidence is higher in women of reproductive age. After the occurrence of a CSVT event, there is an increase in venular pressure and liquor absorption, culminating in an increase intracranial pressure, cytotoxic and vasogenic edema, generating local hemorrhagic infarction. Diagnosis is through neuroimaging, with angiography being the gold standard. As our case, the signs and symptoms are diverse, headache predominating. Early recognition and treatment improve outcome in these patients. Anticoagulation with low molecular weight heparin (LMWH) is the treatment and endovascular thrombolysis is still controversial. Intracranial hemorrhage is not considered a contraindication to the use of anticoagulants. The literature recommends anticoagulation with LMWH for at least 5-10 days, followed by warfarin or LMWH for a minimum of 3 to 6 months for children. The etiological screening must be carried out in search of infectious, cardiac, neoplastic, rheumatological diseases, exogenous intoxication, and hematological conditions in the acute phase of the condition have no investigative value. In the

<footnote n="1">¹Universidade do Estado de São Paulo, Botucatu SP, Brazil.</footnote>
reported case, anticoagulation with LMWH was initiated
from diagnosis and maintained for 3 months. A transition
to oral warfarin was attempted, without success. Regarding
prophylactic antiepileptic therapy, although controversial,
the literature claims to be beneficial and levetiracetam was
used in this case. Surveillance of these patients is recom-
mended due to the increased risk of recurrence of thrombotic
conditions.

Final Comments: CSVT is rare. The clinical presentation is variable, the diagnosis is based on neuroimaging and anti-coagulation should be started as soon as possible.

ID: 757

Area: Others

Presentation method: Presentation
Poster

Child neurology residency in Brazil: current scenario

Paula Thaís Bandeira Elias¹, Maria Luiza Benevides¹, Tarcízio Brito², Letícia Sampaio³, Ana Carolina Coan¹

¹Universidade Estadual de Campinas, Faculdade de Ciências Médicas, Campinas SP, Brazil.

²Universidade de São Paulo, Faculdade de Medicina, Hospital das Clínicas, São Paulo SP, Brazil.

³Universidade de São Paulo, Hospital das Clínicas, Instituto da Criança, São Paulo SP, Brazil.

*Correspondence: benevidesmarialuiza@gmail.com.

Abstract

**Background:** Presently, in Brazil, Child neurology is a medical area that might be followed by pediatricians or neurologists and requires at least two years of specific medical training. There are 26 child neurology residency programs in Brazil, but data about the present scenario is scarce.

**Objective:** Outline the current scenario of child neurology residency programs in Brazil, describing the hospital's struc-tures, accessibility to exams and medical specialties, and residents' performance.

**Methods:** This study included 23 professors and 28 residents from different child neurology residency programs who answered an online survey. A descriptive analysis was made to characterize the sample. Quantitative variables were expressed as means and standard deviations (SDs), and qualitative variables were expressed as frequencies and percentages.

**Results:** Considering the physical structure, 21 (91.3%) resi-dencies are located in teaching hospitals; child neurology is a consultant medical specialty in 13 (56.5%) hospitals; the average number of hospital beds in a pediatric ward is 72.9 (SD±91.7), and in a child neurology ward is 2.4 (SD±3.9). Referring to neuroimaging accessibility, brain ultrasonogra-phy and brain computed tomography (CT) are available in all centers, and magnetic resonance imaging (MRI) in 16 (69.6%) hospitals. The genetic, neurosurgery, psychiatry, and radiol-ogy specialties are accessible in most centers. Epilepsy, general child neurology, and neurodevelopmental are the most frequently addressed areas, in this order. Considering medical residents' performance, professors and residents evaluated their ethical posture as excellent or good. The knowledge about neuroanatomy, neurophysiology, and se-miology was rated as good, as well as interpretation and understanding of genetic tests. Their ability to indicate neuroimaging exams, such as CT or MRI, was considered excellent. Despite the positive scenario, both professors and residents do not agree with the present model. Most profes-

sors suggest direct access to the specialty, and residents think
one more year of Child Neurology would be ideal.

**Conclusion:** This survey comprehended almost all Child Neu-rology residency programs in Brazil, delineating the present scenario, and found that professors and residents do not completely agree with the current model. Future studies might use this data to establish improvement measures in residency programs

ID: 760

Area: Malformations of the central
nervous system

Presentation method: Eletronic Poster

Clinical and neuroimaging features of congenital cystic malformations of the posterior fossa: an illustrated guide

Wallyson Pablo de Oliveira Souza<sup>1,2,3*</sup>, Ingrid Brandão Cardoso Paz<sup>1,2,3</sup>, Ayana Saraiva Brito Vitorino de Oliveira<sup>1,2,3</sup>, Nara Lívia Rezende Soares da Paz Oliveira<sup>1,2,3</sup>, Marcelo de Melo Aragão<sup>1,2,3</sup>, Giuliano da Paz Oliveira<sup>1,2,3</sup>

¹Centro Universitário UNINOVAFAPI, Teresina PI, Brazil.

²Universidade Federal de São Paulo, São Paulo SP, Brazil.

³Universidade Federal do Delta do Parnaíba, Parnaíba PI, Brazil.

*Correspondence: wallyson.pablo@ufpi.edu.br.

Abstract

**Background:** Congenital abnormalities of the posterior fossa, whose diagnosis can be made in the pre- and postnatal periods, represent a spectrum of morphological malformations that occur during embryonic development. Its pathophysiology is related to disorders involving the main components of this brain region, such as the pons, the medulla oblongata, the fourth ventricle, and the cerebellum.

**Objective:** To describe the clinical and neuroimaging features of congenital cystic malformations of the posterior fossa through an illustrated guide.

**Methods:** To compose the illustrated guide, self-authored drawings were produced. Moreover, using our personal archive, we added neuroimaging exams of children affected by the aforementioned conditions.

**Results:** Congenital cystic anomalies of the posterior fossa include Dandy-Walker malformation (DWM), Blake's pouch cyst (BPC), mega cisterna magna (MCM), arachnoid cyst (AC), and cerebellar vermis hypoplasia (CVH). DWM presents signs and symptoms of increased intracranial pressure. Typical neuroimaging features are a hypoplastic, elevated and rotated vermis, cystic dilatation of the fourth ventricle, and widening of the posterior fossa. BPC can manifest macrocephaly, hydrocephalus, ataxia, seizures, and dizziness. Its radiological findings include presence of a retro or infra cerebellar cyst due to dilation of the fourth ventricle. Most children with isolated MCM are asymptomatic. Radiologically, the cisterna magna and the posterior fossa are enlarged, but the vermis is intact. AC is usually asymptomatic, but it may also present with headache and increased intracranial pressure. On imaging, the cyst frequently presents ovoid with isointense content relative to cerebrospinal fluid. CVH leads to a milder clinical picture, for instance, a mild cognitive impairment. The radiological pattern is partial hypoplasia of the inferior vermis without other notable changes.

**Conclusion:** Thus, through an illustrated guide, we summarize the clinical and neuroimaging aspects of cystic congenital malformations of the posterior fossa in order to provide a didactic guide for neurologists and child neurologists.
ID: 762

Area: Neurogenetics

Presentation method: Eletronic Poster

Niemann-Pick disease: the importance of clinical suspection for the diagnosis

Juliana Coelho Xavier<fnref n="1" />, Carla Jéssica da Silva Fernandes<fnref n="1" />, Ezio Junio Gonçalves Nunes<fnref n="1" />, Janeusa Rita Leite Primo Chagas<fnref n="1" />, Francisco Monteiro Meneses<fnref n="1" />, Cinthya Maria Neves Varandas<fnref n="1" />, Ana Luiza Silveira Costa<fnref n="1" />, Madson do Nascimento Lopes<fnref n="1" />, Stephanie Vaz Schoucair<fnref n="1" />

Abstract

**Case Presentation:** We will report a case of Niemann Pick Type C which was followed up by the Pediatric Neurology team at Hospital Santo Antônio. Patient, RLAS, male, 4 years old, born in and from Vitória da Conquista, admitted to the pediatric ward in April/2021, presenting progressive loss of movement for about 9 months in REG, atypical facies, presence of hypochromic spots on the abdomen, good interaction with the examiner, understood simple commands, however, with reduced vocabulary, vertical gaze palsy, only with cervical support, presence of hepatosplenomegaly, hypotrophic, hypotonic, reduced muscle strength in the four limbs, did not walk, with appendicular ataxia. At first, we requested a dosage of lyso-esphingomyelin (Lyso-509) in blood on filter paper with a result of 1880 nmol/L (within the reference value). The patient returns with a worsening of the clinical picture and we insist on the hypothesis of NPC collected molecular genetic test of the NPC1 and NPC2 genes, with result in homozygosity for the pathogenic variant c.3104C>T (p.Ala1035Val) found in the NPC1 gene, related to the disease of Niemann-Pick C.

**Discussion:** Niemann-Pick disease is a rare lysosomal storage or accumulation disorder with an estimated birth rate of 0.4-0.6/100.000. Deficiency of the lysosomal enzyme acid sphingomyelinase causes progressive accumulation of unesterified cholesterol and sphingosine in hepatocytes, reticuloendothelial cells, and, in severe cases, neurons.

**Final Comments:** Due to its rarity associated with diagnostic and follow-up difficulties, a significant and continuous collection of data on the epidemiology, phenotype, genotype and disease evolution is necessary for the evolution of the clinical management of patients with NPC.

ID: 763

Area: Neuroimmunology, multiple sclerosis and other demyelinating diseases

Presentation method: Eletronic Poster

CMV infection during treatment with azathioprine in a patient with neuromyelitis optica: case report

Juliana Coelho Xavier<fnref n="1" />, Carla Jéssica da Silva Fernandes<fnref n="1" />, Ezio Junio Gonçalves Nunes<fnref n="1" />, Janeusa Rita Leite Primo Chagas<fnref n="1" />, Francisco Monteiro Meneses<fnref n="1" />, Cinthya Maria Neves Varandas<fnref n="1" />

Abstract

**Case Presentation:** GBS, 6 years old, male, diagnosed 3 years ago with Optic Neuromyelitis, using azathioprine 3,3mg/kg/day and weaned off corticosteroid therapy 12 days before the onset of fever 10 days before admission. The patient evolved with leukopenia with neutropenia, elevated liver enzymes and daily fever spikes for at least 27 days. Investigation started regarding fever of unknown origin and positive serology for CMV IgM with urinary PCR > 8000 copies. The patient remained clinically and hemodynamically stable, with progressive improvement of symptoms after using ganciclovir for 21 days.

**Discussion:** Cytomegalovirus (CMV) is a highly prevalent DNA virus and has a peculiar ability to infect and remain integrated into the DNA of host cells, remaining in the form of latent infection. The virus can also cause disease, which normally occurs in immunocompromised patients, promoting increased morbidity and mortality in these patients. Spectrum Neuromyelitis Optica (ENMO) is a severe inflammatory and demyelinating condition of the central nervous system, frequently affecting the optic nerves and spinal cord. The treatment of the disease consists of immunosuppression of the patient in order to prevent new outbreaks.

**Final Comments:** The importance of maintaining control and surveillance of patients using immunosuppressants is of paramount importance both in the worsening of the baseline condition and opportunistic diseases.

ID: 765

Area: Neuromuscular diseases

Presentation method: Presentation Poster

Developmental disorders correlates with brain abnormalities in type 1 spinal muscular atrophy

Clara Gontijo Camelo<fnref n="1" />*, Rodrigo Holanda Mendonça<fnref n="1" />, Erasmo Barbante Casella<fnref n="1" />, Kellen Faria Silva Chillon<fnref n="1" />, Antonio José Rocha<fnref n="1" />, Edmar Zanoteli<fnref n="1" />

Abstract

**Background?** Developmental disorders such as speech delay and autistic spectrum disorder (ASD), and also epilepsy are being reported to be associated with prolonged survival in Spinal Muscular Atrophy (SMA) treated patients. Previous studies have demonstrated central nervous system (CNS) involvement as a potential feature in SMA, a genetic disorder characterized by progressive muscle weakness and atrophy due to degeneration of motor neurons in the spinal cord and brainstem. SMA is caused by mutations in the survival motor neuron 1 (SMN1) gene, leading to reduced levels of the SMN protein, which is essential for the survival and function of motor neurons. However, these findings are still described only in case reports and must be systematically evaluated.

**Objective:** To report that SMA may present developmental disorders and epilepsy, despite the degree of motor impairment and to provide evidence that both cognitive and motor impairment may be related to brain abnormalities demonstrated by volumetric MRI sequences.

**Methods:** Among an SMA type 1 cohort of 25 patients aged between one and ten years old, we identified and evaluated five children with signs of developmental disorder or involvement of CNS. They were all previously treated with disease-

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

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

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

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

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

<footnote>*Correspondence: claragc@gmail.com.</footnote>
modifying therapies, and four patients were submitted to volumetric MRI analyzed by Neuroquant software. They were also evaluated by a neuropsychologist.

**Results:** This small patient cohort included four individuals who received treatment after the onset of symptoms and one pre-symptomatic patient. Neurodevelopmental delays were observed in all five patients with SMA. MRI performed in 4 patients (one family did not consent to the exam) revealed the same pattern of reduction of white matter in frontal lobes on volumetric sequences. In addition, these findings correlated with a lower representation of association fibers on Diffusion Tensor Imaging (DTI), particularly of the superior longitudinal fasciculus.

**Conclusion:** This study demonstrated that CNS and neurodevelopmental changes may happen in SMA and may be linked to changes in white matter, which has important implications for patient care.

ID: 766

Area: Neurogenetics

Presentation method: Eletronic Poster

**Childhood epilepsy due to alteration in the GRIN2B gene: a case report**

Olavo Leite Macedo Neto¹*, Maria Victória Lima Gonçalves¹, Cristina Nogueira Marques Alencar¹

¹Faculdade de Medicina Estácio Idomed de Juazeiro Do Norte, Juazeiro do Norte CE, Brazil.

*Correspondence: olavoleitemacedo@gmail.com.

**Abstract**

**Case Presentation:** A male patient at five months of age was taken to a pediatric neurology clinic with a presentation of delayed psychomotor development and mild muscle spasms accompanied by binocular supraversion for two months, occurring frequently at five times per day with an average duration of one minute per episode, triggered when the patient became irritated or cried. Additionally, the child presented significant axial hypotonia, low nasal bridge, epicanthic folds, low-set ears, protuberant heels, and a gaze that did not follow or fixate on eye contact. Neurological examination demonstrated head control acquisition, tetraparesis with hypotonia, grade II symmetric reflexes, indifferent bilateral plantar cutaneous reflex, and intact cranial nerves with isocoric, photoreactive pupils and preserved extraocular motility, including occasional divergent strabismus. A cranial magnetic resonance imaging revealed no structural brain abnormalities or abnormal myelination. An electroencephalogram detected frequent interictal epileptiform activity in the left centro-parieto-temporal region with rare multifocal abnormalities, diffuse slowing of low amplitude, and asymmetry of the baseline activity. Comparative genomic hybridization array was used to identify possible chromosomal alterations causing infantile epileptic encephalopathy, showing a paternally inherited 170kb duplication in band 3p25.2 on the short arm of chromosome 3 and another in region 10q26.3, which did not fully explain the patient's phenotype. Whole-exome sequencing detected a GRIN2B gene alteration with the variant Chr 12:13,720,098 promoting the substitution of glycine for valine at codon 820 (p.Gly820Val), which was not inherited from the parents, indicating a mutational event.

**Discussion:** The GRIN2B gene, located on the short arm of chromosome 12 at 12p13.1, encodes the GluN2B subunit of the N-methyl-D-aspartate receptor, generating neural exci-

tations. Whole-exome sequencing allowed the detection of an extensive number of variants in the GRIN2B gene, which have direct implications in various neurodevelopmental disorders such as intellectual disability, autism spectrum disorder, visual impairment, and infantile epileptic encephalopathy.

**Final Comments:** The importance of investigating genetic mutations using available tests in the field must be underscored as a possible cause of epileptic syndromes, aiming to provide therapeutic support to patients and improve their quality of life.

ID: 767

Area: Neuromuscular diseases

Presentation method: Presentation Poster

**Congenital myasthenic syndrome-22 (CMS22): a case report**

Larissa Baccoli de Souza¹*, Ana Beatriz Arruda Carvalho de Oliveira¹, Cristiani Rocha Lima Cruz¹, Flora Cruz de Almeida Ximenes¹, Yan Victor Araújo Rodrigues¹, Daiane Maryane Cardoso Santos¹, Eric Oneda Sakai¹, Clara Gontijo Camelo¹, Edmar Zanoteli¹

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

*Correspondence: larissabaccoli@hotmail.com.

**Abstract**

**Case Presentation:** Female, 2nd child of healthy, non-consanguineous parents. Born at term with uneventful delivery. At one month old, parents noticed feeding difficulties and weight gain was inadequate requiring the placement of a nasogastric tube. Muscular hypotonia, delayed motor development in addition to a nasal voice was noted. Diagnostic work-up including laboratory screening for metabolic diseases, brain and spine MRI, echocardiogram, ophthalmological evaluation was unremarkable. Whole exome sequencing revealed a homozygous splicing mutation (c.970 -1 G>A) in the PREPL gene (NM_0006036.4).

**Discussion:** The prolyl endopeptidase like gene (PREPL; MIM 609557, NM_006036.4) is located in 2p21, and encodes PREPL protein which is a cytoplasmic serine hydrolase structurally belonging to an oligopeptidase family. Prolyl peptidases have the capacity to participate in cellular regulatory processes, including cell division, apoptosis, cell differentiation, as their substrates are involved in regulating different signaling pathways. PREPL function is to redistribute clathrin-associated adaptor protein complex 1 (AP-1) from the cell membrane into the cytoplasm. AP-1 is a soluble cytoplasmic protein with highest expression in the central nervous system, muscle and kidney. The trafficking of the vesicular Acetylcholine (ACh) transporter is mediated by AP-1 with PREPL redistributing AP-1 from membranes into cytoplasm. PREPL deficiency causes a reduction in the filling of ACh synaptic vesicles. A therapeutic intervention with pyridostigmine improves myasthenic symptoms if the patient is treated early in life. Congenital myasthenic syndrome-22 (CMS22) is an autosomal recessive disorder caused by isolated PREPL deficiency. However, different recessive contiguous gene deletion syndromes involving PREPL and a variable combination of SLC3A1 (hypotonia-cystinuria syndrome), CAMKMT (atypical hypotonia-cystinuria syndrome), and PPM1B (2p21 deletion syndrome) have been described. Patients with isolated PREPL deficiency often experience severe hypotonia during the neonatal period, muscular and facial weakness,
nasal dysarthria, feeding problems, ptosis, failure to thrive, short stature, growth hormone deficiency, hypergonadotropic hypogonadism.

**Final Comments:** As the course of PREPL deficiency is particular in the spontaneous improvement of the severe neonatal hypotonia and several manifestations can be treated with pyridostigmine, an early molecular diagnosis becomes crucial.

ID: 769

**Area: Neurogenetics**

**Presentation method: Eletronic Poster**

**Diagnosis of aromatic L-amino acid decarboxylase deficiency via neurodevelopmental disorder gene panel screening in a patient with atypical presentation**

Ana Karolina Franco da Mota Dias¹*, Maira Katarine Franco da Mota¹, Juliana Dórea Pereira de Bulhões¹

¹UniFTC, Salvador BA, Brazil.

*Correspondence: anakarolina.220@hotmail.com.

**Abstract**

**Case Presentation:** S.C.R., a 13-year-old male, delivered vaginally, had delayed cry at birth and difficulty sucking. Since age 1 year, he had speech delay and difficulty socializing. At 6 years of age, he was referred to a neuropediatrician due to learning difficulties, with the complaint that he spent much time staring upward and performed activities slowly. At age 13, he began to have brief episodes of upward gaze deviation, body tremors, and loss of consciousness. He also had persistent nasal obstruction, in addition to a constant feeling of tiredness, muscle weakness, and recurrent diarrhea since childhood. Physical examination showed hyperemic skin lesions on the elbows and legs, unrelated to trauma, drooping shoulders, and decreased tone. Tests: Electroencephalogram, to investigate the occurrence of seizures, showed multifocal epileptiform discharges, and genetic testing was ordered for suspected genetic disease. The panel revealed L-amino acid decarboxylase (AADC, OMIM 608643) deficiency, with detection of two heterozygous variants in the DDC gene (dopa decarboxylase, OMIM 107930): chr7:50.529.209 T>TGATCG and chr7:50.495.371 T>A. Additionally, genetic testing was performed on his mother and brother, which detected the presence of the variant chr7:50.529.209 T>TGATCG in the DDC gene in heterozygosis and the absence of the variant chr7:50.495.371 T>A in his mother, whereas his brother carried the variant chr7:50.495.371 T>A in the DDC gene in heterozygosis but not the variant chr7:50.529.209 T>TGATCG.

**Discussion:** AADC deficiency is an autosomal recessive metabolic disorder caused by mutations in the DDC gene that lead to decreased levels of neurotransmitters such as dopamine, serotonin, epinephrine, and norepinephrine, which regulate the sympathetic nervous system, mood, cognition, and motor coordination. Symptoms usually emerge in the third month of life and include oculogyric crises, eyelid ptosis, hypotonia, motor delay, variable movement disorders, diarrhea, constipation, nasal congestion, gastroesophageal reflux, and hypoglycemia.

**Final Comments:** AADC deficiency is a rare disease with variable symptoms. The importance of this report lies in drawing attention to the need for genetic testing in patients with movement disorders, hypotonia, and developmental delay of unknown etiology, ensuring accurate diagnosis and

treatment. The diagnoses were performed through diagnostic support programs of PTC Farmacêutica.

ID: 771

**Area: Neuromuscular diseases**

**Presentation method: Presentation Poster**

**Duchhene muscular dystrophy: looking to beyond the muscle from a case series**

Gabriela Silva Ramos¹, Iara Sousa Maia Lamounier¹, Ricardo Goretti Vasconcelos¹, Felipe Silva Lino¹, Alexandre Ribeiro Fernandes¹

¹Hospital Universitário Antônio Pedro, Niterói RJ, Brazil.

*Correspondence: gabisilvaramos95@gmail.com.

**Abstract**

**Background:** Duchenne Muscular Dystrophy (DMD) is an X-linked dystrophinopathy, caused by a mutation in the dystrophin gene, which results in limited production or absence of this protein, whose main function is to protect the muscle fibers during its contraction. This deficiency leads to loss of membrane integrity, with muscle rupture and fatty degeneration. Patients with DMD had changes in muscle strength, Gowers sign, and also symptoms in other organs. There is a higher prevalence of neuropsychiatric disorders in this group of people. Our series of patients was selected to bring light into this discussion.

**Objective:** To discuss extra muscular symptoms related to DMD.

**Methods:** Case series study with nonsystematic literature review.

**Results:** Case #1: a 3-year-old patient, referred with suspected autism spectrum disorder (ASD) with borderline motor development, the CPK requested as part of the etiological assessment was 4892. The MLPA Study showed deletion 45-50. Nowadays this boy is 4 years old, and ASD was confirmed. Case #2: a 3-year-old patient with muscle weakness and CPK of 4320. MLPA study with intronic mutation. He lost gait at age 13 and then began to show symptoms of hallucinations and depression, followed by bipolar disorder (BD). Currently he is 19 years old and also attends to the psychiatric clinic.

**Conclusion:** The cognitive abnormalities observed in people with DMD are well discussed. Conversely, behavioral abnormalities is still a matter with much discussion. The prevalence of ASD in this population is higher, as well as BD, Attetion Deficit Hyperactive Disorder (ADHD) and obsessive-compulsive disorder (OCD). A recent meta-analysis showed that these findings were more common in ADHD and OCD. Our series highlights the need of care to people with DMD and also remember us to pay more attention to extra muscular problems, once they directly interfere with the quality of life of patients and their families.
ID: 772

Area: Neurogenetics

Presentation method: Eletronic Poster

**Episodic ataxia type 2: case report**

Lisandra Coneglian Farias Rigoldi¹, Daniel Almeida Vale¹, Bianca Aymone Silva¹, Gustavo Moura Mata Machado Ferreira Pinto¹, Larissa Rosa Passos¹

¹Hospital Pequeno Príncipe, Curitiba PR, Brazil.

*Correspondence: lisandra.coneglian@gmail.com.

**Abstract**

**Case Presentation:** BHN, 4 years old, experienced episodes of vomiting, ataxia, and subsequent progressive drowsiness starting at 2 years of age. Additionally, there was a delay in language development. Initially, it was investigated as benign paroxysmal vertigo, and treatment with flunarizine was initiated with no improvement. As the episodes became more frequent, genetic investigation was chosen, revealing a mutation in the CACNA1A gene, leading to a diagnosis of episodic ataxia type 2 (EA2). Pharmacological treatment with acetazolamide was initiated, resulting in improvement. The patient continues to receive follow-up care in our service and undergoes language stimulation therapies.

**Discussion:** EA2 is a rare neurological disorder that affects the cerebellum, caused by an autosomal dominant genetic mutation in the CACNA1A gene, which is responsible for producing a P/Q-type calcium channel protein. Dysfunction in this protein leads to abnormal excitability of cerebellar neurons. The estimated prevalence is 1-2 in 100,000, with geographic and ethnic variations. The typical age range of onset described in the literature is the second decade of life. Two families were reported by von Brederlow et al. in 1995, involving children between 2 and 5 years old, similar to our patient. Clinical manifestations include episodes of incoordination, imbalance, progressive ataxia, speech problems, and unstable vision. These episodes can last from minutes to hours and occur from several times a day to a few times a year. In the case of our patient, the occurrences were weekly. Precipitating factors described in the literature include nicotine, caffeine, and alcohol. There is no cure for EA2, but medications such as acetazolamide at a dose of 8-30 mg/kg/day can help reduce the frequency and severity of ataxic episodes. Rehabilitation therapies such as physiotherapy and occupational therapy can also be beneficial. The literature reports a more rapid progression in individuals with an onset younger than 20 years old.

**Final Comments:** Genetic etiology is a common cause of episodic ataxia, as described in the literature. The current focus on the causes of episodic ataxias is based on identifying mutations in genes responsible for ion channel formation, correlating them with clinical signs and responsiveness to pharmacological treatment

ID: 773

Area: Neurogenetics

Presentation method: Presentation Poster

**TANGO2 deficiency in siblings**

Matheus de Souza Rosa¹*, Taynara Montes Araújo Cascão Figueiredo¹, Vanessa Limeira Pontes Lucena¹, Marcela Lopes

Almeida¹, Maria Avanise Yumi Minami¹, Ana Paula Andrade Hamad¹

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

*Correspondence: matheus_bh09@hotmail.com.

**Abstract**

**Case Presentation:** Case 1: A male child had normal neurological development until one year old. Then, he started having episodes of vomit and diarrhea, followed by hypoglycemia and seizures. These events were followed by regression in his development, cognitive decline and progressive spastic tetraparesis. During the investigation, he was also diagnosed with hypothyroidism and epilepsy. Brain magnetic resonance imaging (MRI) had diffused cerebral and cerebellar atrophy, along with a thin corpus callosum. Whole exome sequencing (WES) showed a pathogenic variant in TANGO2, which allowed the diagnosis of TANGO2 deficiency. Case 2: During the investigation of patient of case one, the younger sister presented a similar story. Normal development until 15 months old, when the first metabolic crisis occurred. Patient needed support of the pediatric intensive care unit (PICU) and intubation. Afterwards, she developed epilepsy, hypotonia, gait impairment and development regression. Further genetic investigation showed the same pathogenic variant in TANGO2 as in her brother.

**Discussion:** Pathogenic variants in TANGO2 (Transport and Golgi Organizations 2 Homolog) were first identified in 2016. Patients present with global developmental delay, ataxia, epilepsy, progressive cognitive decline, encephalopathy, hypothyroidism and life-threatening metabolic crisis with hypoglycemia, rhabdomyolysis, cardiac arrhythmias and cardiomyopathy. Symptoms usually start in infancy and developmental delay is often the first sign. It is an autosomal recessive condition and the diagnosis of patients with suggestive phenotype occurs by the identification of biallelic pathogenic variants in TANGO2. Also, in metabolic crisis, elevated creatine phosphokinase (CPK) and liver enzymes, along with hypoglycemia, lactic acidosis, mild hyperammonemia and QTc prolongation can be found. Imaging shows diffuse atrophy, ventriculomegaly and diminished white matter. There is no specific treatment. Daily supplementation of B Complex vitamins is indicated, along with antiepileptic drug therapy (AED), levothyroxine as needed, rehabilitation therapies and psychological support for patients and caregivers. During the acute metabolic crisis, support care is needed to acknowledge the complications, such as hypoglycemia, arrhythmias and rhabdomyolysis.

**Final Comments:** TANGO2 deficiency is a rare condition with poor prognosis. However, knowing this disorder is important in order to prevent recurrent crises and improve patients' and caregivers' quality of life.

ID: 774

Area: Neuroimmunology, multiple sclerosis and other demyelinating diseases

Presentation method: Presentation Poster

**Autoimmune encephalitis in the pediatric patient: a retrospective study at a tertiary care center**
Joemir Jábson Conceição Brito¹, Ana Carolina Coan¹
*Correspondence: acoan@unicamp.br.

**Abstract**

**Background:** Autoimmune Encephalitis (AE) is a group of treatable inflammatory diseases of the central nervous system that affect children and adolescents, most of whom are previously healthy. They are a significant cause of morbidity and mortality worldwide. They can be triggered by tumors, viral infections or have a cryptogenic etiology. Anti-NMDA receptor encephalitis is the prototype of AE in Pediatrics. The speed of recovery, the degree of residual deficit and the rate of relapses naturally depend on the type of AE.

**Objective:** To describe the clinical profile of children and adolescents with diagnosis of autoimmune encephalities followed at a single tertiary care center.

**Methods:** We conducted retrospective evaluation of children and adolescents (age range: 0-16 years) diagnosed with autoimmune encephalitis, treated at a single tertiary care center, between July 2011 and June 2020. Demographic, clinical, laboratory, therapeutic and clinical evolution were reviewed.

**Results:** Ten patients were diagnosed with autoimmune encephalitis: 70% with confirmed anti-NMDA receptor encephalities, 10% with anti-GAD encephalities and 20% seronegative. 50% were female and 50% male. 40% were preschoolers, with a mean age of 2.5 years; 50% schoolchildren, with a mean age of 7.4 years and 10% adolescents, with a mean age of 13 years. During clinical evolution, 70% required intensive care unit care. 90% had viral prodromes preceding the onset of neurological symptoms. All patients presented with seizures, cognitive and behavioral changes, sleep disorders, and movement disorders. 60% had CSF pleocytosis and/or hyperproteinorachia. 67% of patients showed abnormal MRI findings. No neoplasia was detected in the screening. 100% received first-line therapy, and only 20% needed second-line therapy. During clinical follow-up, one child had disease recurrence and one evolved with epilepsy and learning disability.

**Conclusion:** The results obtained are in line with literature data, and provide guidance on initial laboratory investigation, the importance of early and accurate diagnosis, therapy and expected results with clinical follow-up.

ID: 775

## Area: Neuroinfections

### Presentation method: Eletronic Poster

**Lemierre syndrome: a rare condition in a pediatric patient**

Joemir Jábson Conceição Brito<fnref n="1" />, Renata Silva Mendonça<fnref n="1" />, Mariana Piva Costa<fnref n="1" />, Larissa Baccoli Souza<fnref n="1" />, Daniel Shoji Hayashi<fnref n="1" />, Andreia Braga Mota Azzoni<fnref n="1" />, Pedro Carrijo Costa<fnref n="1" />, Eric Oneda Sakai<fnref n="1" />, Leticia Pereira Brito Sampaio<fnref n="1" />

*Correspondence: leticia.sampaio@hc.fm.usp.br.

**Abstract**

**Case Presentation:** Male, 15-year-old black boy. By the end of March 2023, he had a sore throat, fever and malaise. Over the next few days, he developed headache, bipalpebral edema, pain and swelling over his neck, vomiting, shortness of breath and desaturation. Contrast-enhanced CT of the head, neck, and chest were performed and revealed pneumocephalus, abscess in the left frontal lobe of the brain, superior sagittal

sinus thrombosis, thrombus along the internal jugular veins causing septic thrombophlebitis, ground-glass opacities and consolidations in the lung, consistent with Lemierre's syndrome. Blood cultures were negative, but the culture of drainage of maxillary sinus were positive Acinetobacter baumannii complex and Streptococcus anginosus multissible and after one week the drainage of orbital cellulitis was performed and positive for Staphylococcus Haemolyticus, multiresistant. Intravenous ceftriaxone, metronidazole and anticoagulation with low molecular weight heparin was initiated, but the antibiotics were replaced by linezolid and meropenem, directed by antibiogram. Neurosurgeons recommended craniotomy with drainage due to brain abscess, with no intercurrence. The patient's clinical status improved after the implemented measures.

**Discussion:** Lemierre syndrome (LS) is a rare condition characterized by septic thrombophlebitis of the internal jugular vein, with septic embolization, leading to multiorgan involvement, commonly the lungs (up to 97% of cases). Its incidence has been between 0.6-2.3 per million people. There is a male predominance, with 70% of patients between the ages of 16 and 25 years. The most common site of infection is the palatine tonsils (87.1% of cases), as is our case. Clinical manifestations include fever, pain and stiffness of the neck and cervical lymphadenopathy, trismus. Fusobacterium necrophorum is responsible for a majority of cases, but in up to one-third of patients polymicrobial bacteremia is demonstrated. Contrast-enhanced CT is considered gold standard. The treatment is usually with anticoagulation, intravenous antibiotics for 3-6 weeks and potentially surgical drainage for non-resolving abscesses.

**Final Comments:** LS is a rare disease associated with potentially life-threatening complications. It is important to recognise the symptoms early, appropriate treatment confers a very good prognosis, while its late complications are catastrophic with multiorgan involvement.

ID: 778

## Area: Neuropsychiatric disorders and learning disorders

### Presentation method: Presentation Poster

**The family's perception in the diagnosis of autism spectrum disorder**

Kaio Gabriel Carvalho Mendes, Maira Katarine Franco da Mota

*Correspondence: kaio.gabrielcm@gmail.com.

**Abstract**

**Background:** Autism Spectrum Disorder (ASD) is currently one of the most talked-about neuropsychiatric disorders, although many still do not fully understand the topic and the impacts it has on the family sphere. This research aimed to seek and analyze the transformations that occur within the family sphere when a diagnosis of ASD is made in a family member and throughout the initial treatment. Therefore, this study will provide information on how ASD is capable of interfering with the behavior, social interaction, and lifestyle of the family.

**Objective:** To evaluate the family's perception of the diagnosis of ASD and how it influences them in a biological, psychological, and economic context. With this in mind, it sought to promote a discussion about the social context in which the family finds itself and to associate this context with the perception of the diagnosis. In addition, data related to

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

<footnote n="1">¹Universidade de São Paulo, Faculdade de Medicina, Hospital das Clínicas, São Paulo SP, Brazil.</footnote>
consanguinity, age, and profession of the parents were ana-
lyzed in the development of ASD.

**Methods:** The methodology used consists of applying a semi-
structured questionnaire after the diagnosis/monitoring con-
sultation of ASD, addressing quantitative and qualitative
questions about the disorder's development. Data were col-
lected from various families, and the analysis of the material
was based on the content collected during the interviews. The
research included relatives of children and pre-adolescents
who recently (up to one year) received a diagnosis of ASD.

**Results:** The results of this research highlighted the various ways in which the family sphere reacted to the diagnosis given at that moment. For example, some families accepted the diagnosis in the best possible way, taking what was said in the consultation seriously and seeking the best for their child. Another part faced serious problems of rejection, denial of the condition, as well as financial difficulties. Thus, over time, it was possible to analyze the evolution or regression of the family dynamics with adequate support.

**Conclusion:** Individuals with autism spectrum disorder are exposed to various stages of family acceptance, denial, shattered expectations, and necessary adaptation. Therefore, it is necessary to seek to understand the complexity of individuals with ASD and help them in their development.

**Results:** Four patients with IESS were evaluated, with spasms onset between 3 and 10 months. All had hypsarrhythmia on electroencephalogram and neurodevelopmental regression. Prior to KD, all patients received treatment with high doses of glucocorticoids and vigabatrin, but with unsatisfactory responses. Two patients had structural abnormalities as etiological factors, while two had genetic syndromes (Aicardi and Down syndromes). All patients had good adherence and no significant adverse effects with classic KD. Mean age at KD initiation was 17.5 months (SD ± 6.8). One patient showed a reduction of more than 75% in seizure frequency, while the other three achieved complete seizure control. In the latter group, the use of anti-seizure medications was reduced during follow-up. All patients showed improvement in neurodevelopment.

**Conclusion:** KD proved to be a safe, cost-effective and highly effective therapeutic option for patients with refractory epilepsy, including those with IESS, according to the studied sample. The findings of this study support existing literature, highlighting KD as an efficacious and feasible alternative for cases of severe epilepsy refractory to pharmacological treatment.

ID: 779

Area: Epilepsies

Presentation method: Eletronic Poster

Evaluation of response and safety of ketogenic diet in patients with infantile epileptic spasms syndrome

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

*Correspondence: pedroluizlopes2@hotmail.com.

Abstract

**Background:** Infantile epileptic spasms syndrome (IESS) is a type of epileptic encephalopathy that typically starts between the 3rd and 12th months of life, with an associated prevalence of 30/100,000 liveborn infants. It is characterized by epileptic spasms, often associated with hypsarrhythmia and neurodevelopmental regression. The ketogenic diet (KD) is a non-pharmacological therapy for refractory epilepsy, based on a high-fat, low-carbohydrate, and adequate-protein diet.

**Objective:** To evaluate the clinical response of KD in patients diagnosed with refractory IESS who did not respond to high-dose glucocorticoids and vigabatrin.

**Methods:** A retrospective cross-sectional study involving the analysis of medical records from July to December 2022. The study included patients with IESS who were recommended KD at the Refractory Epilepsy and Ketogenic Diet Outpatient Clinic of a tertiary hospital in Northeast Brazil. Variables analyzed included age at KD initiation, clinical response, pre- and post-KD antiseizure medications, adherence and adverse effects. Descriptive analysis of continuous variables was performed using numerical values, mean and standard deviation (SD). The study was approved by the Local Research Ethics Committee under the number 65145922.1.0000.5042.

ID: 780

Area: Neuropsychiatric disorders and
learning disorders

Presentation method: Eletronic Poster

Analysis of the post-treatment social interaction test with
cannabidiol in an animal model for autism

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

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

Abstract

**Background:** Autism is a neurodevelopmental disorder diagnosed through the presence of impairments both in interaction and social communication, as well as in repetitive behaviors and restricted interests. When testing autistic-type animals, the social interaction test (SIT) is one of the most relevant and presents an adequate performance for social deficits. This consists of 3 chambers, chamber one which contains a new object never socialized with the animal under test (chamber 1), the central chamber (chamber 2) where the animal is placed at the beginning of the test and the chamber which contains a new animal unknown to the test animal (chamber 3).

**Objective:** To analyze the behavioral effects after treatment with Cannabidiol (CBD) on TIS in an animal model for autism.

**Methods:** 105 male Wistar rats that had intrauterine exposure with valproic acid or sodium chloride solution were used. After completing 27 days, they were treated for 15 days with CBD at a dosage of 30mg/kg or sesame oil (vehicle) and after the treatment period, they were submitted to TIS, where each animal remained for 10 minutes.

**Results:** The variables time in chambers 1, 2 and 3 and time spent socializing with a new animal and with a new object did not show significant differences in relation to the vehicle-treated non-autistic control group. When compared among themselves and not just with the non-autistic and vehicle-treated group, all groups, autistic and non-autistic, spent more time in chamber 2, to which they were exposed at the beginning of the test. When compared to the non-autistic control group, the vehicle-only autistic control group spent

<footnote n="1">¹Hospital Universitário Walter Cantídio, Fortaleza CE, Brazil.</footnote>

<footnote n="2">²Hospital Infantil Albert Sabin, Fortaleza CE, Brazil.</footnote>

<footnote n="1">¹Universidade Regional de Blumenau, Blumenau SC, Brazil.</footnote>
more time in chamber 1, but not the same amount of time in
chamber 3. In addition, the vehicle-treated autistic control
group spent more time in the test, interacting with the object
(chamber 1), while the autistic group treated with 30mg/kg of
CBD spent more time interacting with the new animal
(chamber 3), which denotes that CBD was able to act on
the behavior of these animals, decreasing their anxiety about
the environment and the unknown. It was possible to dem-
onstrate the autistic-like behavior induced by valproic acid
through the greater time spent by the vehicle-treated autistic
animals interacting with a new object, but not with an
unknown animal.

**Conclusion:** The activity of CBDI in increasing social interac-
tion is also demonstrated, as the animals spent more time
interacting with the unknown animal.

ID: 781

Area: Neurogenetics

Presentation method: Eletronic Poster

Should we insist on etiological investigation, even in the
face of neonatal risk factors?

Débora Mendes<fnref n="1" />*, Tiago Araujo<fnref n="1" />, Henrique Innocencio<fnref n="1" />, Priscila Câmara<fnref n="1" />, Jeanne Mazza<fnref n="1" />, Lisiane Seguti<fnref n="1" />

Abstract

**Case Presentation:** LVLM, 10 years old, daughter of non-consanguineous parents, which mother ingested alcohol and smoked during pregnancy, without neonatal complications. Evolved with delay neuropsychomotor, predominantly language, low social reciprocity and restricted interests. At 12 months, had her first febrile seizure. At 3 years old hetero-aggressiveness and self-injury, stereotyped movements and sensory dysfunction were observed. On physical examination, microcephaly, straight palpebral fissures, deep-set eyes, high nasal root, tapered dorsum, nasal wing hypoplasia, retromicrognathia, pectus excavatum, paucity of palmar creases, single palmar crease on the right. The neurological examination showed slurred speech with squeaking, facial hypomimia, hypertonia, grade 4 muscle strength globally and unstable gait. The echocardiogram showed a bicuspid aortic valve. The MRI of skull showed a slight diffuse reduction of the white matter of the cerebral hemispheres and discrete foci of hypersignal on T2/FLAIR, compatible with previous hypoxic-ischemic injury. Exoma showed heterozygous pathogenic variant of the DYRK1A gene.

**Discussion:** DYRK1A syndrome is caused by a pathogenic variant whose prevalence is below 1/1000.000. Patients present with microcephaly, intellectual disability, autistic behavior and phenotypic characteristics. The diagnosis is obtained by molecular test. The objective of this work is to present the case of a patient with DYRK1A gene mutation, whose mother consumed alcohol during pregnancy.

**Final Comments:** DYRK1A syndrome, although a very rare condition, should be among the differentials diagnoses in a patient with intellectual disability, microcephaly, heart malformation and dysmorphisms.

ID: 782

Area: Neurogenetics

Presentation method: Eletronic Poster

Childhood-onset type I glutaric aciduria: the impact of
delayed diagnosis

Gabriella Correa Dousseau<fnref n="1" />*, Isabel de Oliveira Santos<fnref n="1" />, Gleica Maria de Macena Kanawa<fnref n="1" />, Júlian Letícia de Freitas<fnref n="1" />, Maria Sheila Guimarães Rocha<fnref n="1" />

Abstract

**Case Presentation:** 10-month-old infant, daughter of non-consanguineous parents, without previous comorbidities, with post-vaccination fever two months ago associated with seizures and evolving since then with motor regression characterized by difficulty in sustaining head/trunk, global hypotonia and uncoordinated involuntary movements in the limbs. Initial investigation ruled out infection, including normal CSF. Cerebral MRI showed bilateral and symmetric T2/FLAIR hypersignal, with diffusion restriction in the caudate nucleus, lentiform and cerebral peduncle. Whole-exome sequencing identified pathogenic variants (p.Arg227Pro / p.Arg402Trp) in the GCDH gene.

**Discussion:** Type I glutaric aciduria is a rare, autosomal recessive disease caused by glutaryl-Coa dehydrogenase deficiency by mutations in the GCDH gene, leading to increased concentrations of glutaric acid, 3-hydroxyglutaric acid, glutatonic acid and glutarylcarnitine with potential neurotoxicity. The clinical presentation is variable and may occur in the first months/years of life with episodes of acute encephalopathy (hypotonia, seizures, motor regression and dystonia) usually precipitated by some stressors. On neuroimaging, the typical finding is bilateral damage to the basal ganglia. Treatment includes a low-lysine diet, L-carnitine supplementation, and emergency treatment during catabolic episodes.

**Final Comments:** Type I glutaric aciduria is potentially treatable and its early diagnosis should be sought, ideally in neonatal screening tests, as the treatment aims to prevent acute encephalopathy attacks, which impact on the development of these individuals.

ID: 783

Area: Neuromuscular diseases

Presentation method: Presentation
Poster

FIREFISH parts 1 and 2: 4-year efficacy and safety of risdiplam in type 1 spinal muscular atrophy

Edmar Zanoteli<fnref n="1" />*, Giovanni Baranello<fnref n="2" />,³, Odile Boespflug-Tanguy⁴,⁵, John W. Day⁶, Nicolas Deconinck⁷,⁸, Andrea Klein⁹,¹⁰, Riccardo Masson³, Maria Mazurkiewicz-Bełdzińska¹¹, Eugenio Mercuri¹², Kristy Rose¹³, Laurent Servais⁴,¹⁴,¹⁵, Dmitry Vlodavets<fnref n="1" />, COMP: Last name⁶ Hui Xiong¹⁷, Muna El-Khairi¹⁸, Marianne Gerber¹⁹, Ksenija Gorni²⁰, Heidemarie Kletz¹²,¹¹, Laura Palfreeman¹⁸, Angela Dodman²², Basil T. Darras²³, on behalf of the FIREFISH Study Group

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

<footnote>*Correspondence: deborasm lmh@gmail.com.</footnote>

<footnote n="1">¹Hospital Santa Marcelina, São Paulo SP, Brazil.</footnote>

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

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

<footnote n="2">²The Dubowitz Neuromuscular Centre, NIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute</footnote>
of Child Health University College London, Great Ormond Street Hospital Trust, London, United Kingdom.

³Fondazione IRCCS Istituto Neurologico Carlo Besta, Developmental Neurology Unit, Milan, Italy.

⁴Hôpital Armand Trousseau, I-Motion Institut de Myologie AP-HP, Paris, France.

⁵Université de Paris, UMR 1141, NeuroDiderot, Paris, France.

⁶Stanford University, Department of Neurology, Palo Alto, California, United States.

⁷Neuromuscular Reference Center, UZ Gent, Ghent, Belgium,

⁸Université Libre de Bruxelles, Queen Fabiola Children's University Hospital, Centre de Référence des Maladies Neuromusculaires, Brussels, Belgium.

⁹University Children's Hospital Basel, Paediatric Neurology, Basel, Switzerland.

¹⁰University of Bern, Bern University Hospital, Inselspital, Department of Paediatrics, Division of Neuropaediatrics, Bern, Switzerland.

¹¹Medical University of Gdańsk, Department of Developmental Neurology, Gdańsk, Poland.

¹²Catholic University and Nemo Pediatrico, Fondazione Policlinico Gemelli IRCCS, Pediatric Neurology Institute, Rome, Italy.

¹³University of Sydney and Sydney Children's Hospital Network, Faculty of Medicine and Health, Discipline of Physiotherapy, Sydney, Australia.

¹⁴University of Oxford, Oxford, MDUK Oxford Neuromuscular Centre, Department of Paediatrics, United Kingdom.

¹⁵University of Liège, Centre de Références des Maladies Neuromusculaires, Department of Pediatrics, Division of Child Neurology, Liège, Belgium.

¹⁶Pirogov Russian National Research Medical University, Veltischev Clinical Pediatric Research Institute, Russian Children Neuromuscular Center, Moscow, Russia.

¹⁷Peking University First Hospital, Department of Pediatrics, Beijing, China.

¹⁸Roche Products Ltd, Welwyn Garden City, United Kingdom.

¹⁹F. Hoffmann-La Roche Ltd, Pharma Development, Safety, Basel, Switzerland.

²⁰F. Hoffmann-La Roche Ltd, PDMA Neuroscience and Rare Disease, Basel, Switzerland.

²¹Roche Innovation Center Basel, Roche Pharmaceutical Research and Early Development, Basel, Switzerland.

²²F. Hoffmann-La Roche Ltd, Pharma Development Neurology, Basel, Switzerland.

²³Harvard Medical School, Boston Children's Hospital, Department of Neurology, Boston, Massachusetts, United States.

*Correspondence: edmar.zanoteli@usp.br.

## Abstract

**Background:** Risdiplam (EVRYSDI®) is a centrally and peripherally distributed, oral survival of motor neuron 2 (SMN2) pre-mRNA splicing modifier, approved in more than 90 countries worldwide.

**Objective:** To assess the safety, tolerability and pharmacokinetics/pharmacodynamics of different risdiplam doses.

**Methods:** FIREFISH (NCT02913482) is a multicenter, open-label, two-part study of risdiplam in children with Type 1 spinal muscular atrophy (SMA) and two SMN2 gene copies (inclusion criteria: 1-7 months old at enrollment). FIREFISH Part 1 assessed the safety, tolerability and pharmacokinetics/pharmacodynamics of different risdiplam doses. Pivotal Part 2 assessed the safety and efficacy of risdiplam over 24 months at the dose selected from Part 1. Thereafter, children entered a 3-year open-label extension phase and continue to receive risdiplam at the pivotal dose.

**Results:** Pooled safety and efficacy data were available from 58 enrolled infants who received risdiplam treatment (Part 1 high-dose cohort, n=17, and Part 2, N=41). As of the cut-off date (23 November, 2021), there were no treatment-related adverse events leading to withdrawal, no additional deaths

and no additional children meeting the definition of permanent ventilation since Month 24. At Month 36, 84% of children were alive and did not require permanent ventilation. Children either maintained or improved their motor skills in terms of developmental milestones and motor function between Months 24 and 36, which is not observed in natural history.

**Conclusion:** Here we present longer-term pooled safety and efficacy data from children who have received risdiplam at the pivotal dose for at least 48 months. FIREFISH Parts 1 and 2 are ongoing globally and will provide further safety and efficacy data of risdiplam in the treatment of Type 1 SMA.

ID: 784

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

## Presentation method: Presentation Poster

### Multiphasic disseminated encephalomyelitis (MDEM): a case report

Larissa Baccoli de Souza¹, Andreia Braga Mota Azzoni¹, Joemir Jábson da Conceição Brito¹, Renata Silva de Mendonça¹, Daniel Shoji Hayashi¹, Mariana Piva da Costa¹, Pedro Carrijo Costa¹, Renata Barbosa Paolilo¹, Fernando Kok¹

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

*Correspondence: larissabaccoli@hotmail.com.

## Abstract

**Case Presentation:** A 17-year-old girl, caucasian, previously healthy, presented with several episodes of neurological deficits: August/2009: fever, headache and complete left hemiparesis, October/2009: dysarthria and impairment of extrinsic ocular motricity, August/2010: gait disorder, February/2011: headache, September/2018: seizure and dysarthria, November/2018: dysphagia, sialorrhea and slurred speech. In all events, she underwent treatment with intravenous Methylprednisolone 1g for 7 days with good recovery, and prescription of maintenance oral corticosteroid therapy. Neuroimaging exams showed lesions suggestive of a demyelinating substrate affecting the cerebral white matter, thalamus, brainstem and conus medullary. She was referred to our center after the last episode. MOG-IgG antibody against myelin oligodendrocyte glycoprotein (MOG) was detected in serum. Intravenous immunoglobulin (IVIG) was prescribed from December/2018 to June/2019. She had no further attacks after this treatment. At last follow-up, there was a cognitive impairment (infantilized speech and school difficulties).

**Discussion:** MOG constitutes a quantitatively minor component of central nervous system myelin and is expressed on the outer lamella of the myelin sheath. MOG-IgG has been identified in an expanding spectrum of demyelinating syndromes specially in pediatric patients presenting with monophasic or multiphasic acute disseminated encephalomyelitis (ADEM), and optic neuritis. ADEM is the most frequent phenotype of paediatric MOG associated disease, and is characterized by encephalopathy in addition to polyfocal neurological signs. Neuroimaging exams show widespread involvement of different anatomical areas including the brainstem and spinal cord, often with longitudinally extensive transverse myelitis.

**Final Comments:** Although ADEM patients generally have a favorable long-term prognosis, and typically have a
monophasic disease course, relapses can occur, known as multiphasic disseminated encephalomyelitis (MDEM). A relapsing course is more common in patients with persistent seropostivity and older age at onset. The second demyelinating event generally occurs in the following 12 months, but the time interval and frequency of attacks vary considerably. Every new relapse with new brain demyelination might increase the risk of secondary neuroaxonal injury, long-term cognitive impairment and post-ADEM epilepsy. Therapy for recurrent MOG-Ab-associated diseases remains a challenge, although IVIG can reduce relapse frequency.

ID: 787

Area: Others

Presentation method: Presentation Poster

Scurvy as a differential diagnosis of chronic pain in the lower limbs in a patient with autism spectrum disorder (ASD): a narrative review of the literature

Gustavo Duque Yecker<fnref n="1" />*, Caroline Scantamburlo Martins<fnref n="1" />,
Maria Regina Augusto de Andrade<fnref n="1" />, Renata Novellino do
Rosário Azzi<fnref n="1" />, Matheus Freire de Lima<fnref n="1" />, Tayná Bastos Mourão
Viana<fnref n="1" />, Maria izabel Müller de Campos Dutra e Silva de
Andrade<fnref n="1" />, Marina Carvalho Duarte Sá<fnref n="1" />, Ana Carolina de
Carvalho Coutinho Ezarani<fnref n="1" />

*Correspondence: gustavoduqueyecker@gmail.com.

Abstract

**Case Presentation:** R.G., 9 years old, with Autism Spectrum Disorder (ASD), with significant food selectivity and without follow-up in a child neurology service. He started with pain in the lower limbs (LL) and altered gait pattern 3 months ago, with significant worsening of the condition 2 weeks ago. Due to the condition, the parents sought one Orthopedic, at which time immobilization was performed with boot in the LL. With the non-resolvability of the condition, they sought medical care again, this time at the Prontobaby Hospital da Criança for diagnostic investigation. On physical examination, it was possible to observe reduced strength in the lower limbs, pain and crying facies when the minor touched the limbs on the ground, as well as the presence of petechiae throughout the body and polyarticular edema of the LL. The Prontobaby team raised the hypothesis of hypovitaminosis C, due to the significant food selectivity and the findings of the physical examination. After dosing vitamin C, whose patient value was 0.05 mg/dl (reference value: 0.5 – 1.5 mg/dl), this vitamin was replaced. R.G. evolves, in 48 hours, with significant improvement of pain and gait pattern.

**Discussion:** Scurvy is a nutritional disease caused by severe deficiency of vitamin C, or ascorbic acid. Total body storage of vitamin C is 1,500 mg, and clinical features of deficiency occur after this level is reduced to less than 350 mg. Although vitamin C deficiency is common, scurvy is evidently rare, but it should be considered as a differential diagnosis in patients with significant food selectivity, such as several patients with ASD. In the early stages of scurvy, nonspecific symptoms appear. With evolution of the illness may arise anemia, muscle and bone pain, petechiae, edema of the LL and mood swings. The diagnosis is based on the clinical condition, dietary history of the patient and a physical examination based on suggestive findings. The improvement clinical after six weeks of ascorbic acid administration works as a thera-

peutic and diagnostic test, being considered the best evidence of scurvy.

**Final Comments:** In conclusion, scurvy, although rare, is a differential diagnosis of bleeding disorders, rheumatic diseases and diseases of legal medical interest. It is essential that the child neurologist be aware of the clinical condition to make the diagnosis, especially in patients with ASD with significant food selectivity, because it is a potentially fatal disease, but of easy and effective therapeutic intervention

ID: 788

Area: Neurogenetics

Presentation method: Eletronic Poster

Hypomielinating leukodystrophy 10: a case report

Maria Lina Giacomino de Almeida Passos Azevedo<fnref n="1" />*, Aline Chacon Pereira<fnref n="1" />, Amanda Regina Farias Teixeira<fnref n="1" />, Fernanda dos Santos Ribeiro<fnref n="1" />, Jessica Kayene Souza Ferreira<fnref n="1" />, Maria Mariana Muniz Jorge de Melo<fnref n="1" />, Patrícia Selestrini<fnref n="1" />, Sarah Falcão Brasileiro Henriques<fnref n="1" />, Sofia Russi<fnref n="1" />

*Correspondence: marialina.pediatra@gmail.com.

Abstract

**Case Presentation:** This report is about a 7-year-old boy with a homozygous mutation in the PYCR2 gene, who was initially evaluated by paediatric nutrologist due to failure to thrive and recurrent vomiting since his fifth week of life. He was hospitalized from 6 to 12 months of age for nutritional care and a gastrostomy for tube feeding was performed 6 months after discharge. He had his first seizure one week after the procedure, and he had his neurological assessment shortly after. Phenobarbital was prescribed to control the seizures and later, valproic acid, but was quickly discontinued. Carbamazepine and clobazam were needed for seizure control in follow-up evaluations. In recent physical examination, the patient had muscular hypotrophy, spasticity, brisk tendon reflexes, extensor plantar reflexes and minimal interaction with the environment. He also exhibited dysmorphic features such as an elongated face, dysplastic ears, long and smooth philtrum and turricephaly. The electroencephalograms were unspecific. The brain magnetic resonance imaging at the age of three years old revealed accentuation of Sylvian fissures, delayed myelination/hypomyelination, marked diffuse thinning of the corpus callosum and dilation of the supratentorial ventricular system. The patient has a healthy brother sharing the same progenitors and two sisters who do not share the same father nor show any symptoms of HLD.

**Discussion:** Hypomielinating Leukodystrophy (HLD) is a group of diseases with a heterogeneous genotype but similar phenotypes. It is characterized by a persistent deficit of myelination on MRI scans, affected motor ability and variable intellectual disability. Hypomielinating Leukodystrophy-10 is caused by mutations in PYCR2, a gene that encodes a mitochondrial enzyme involved in proline synthesis. Inheritance pattern is autosomal recessive. This genetic defect manifests with profound intellectual disability, progressive microcephaly, dystonia, and poor overall growth.

**Final Comments:** The database on HLD-10 is limited and a worse neurodevelopmental outcome has been reported compared to other types of HLD. The reported case shares clinical features with other cases, and the patient has been followed by support therapies. The family received genetic counselling.

<footnote n="1">¹Prontobaby Hospital da Criança, Rio de Janeiro RJ, Brazil.</footnote>

<footnote n="1">¹Universidade Federal do Rio de Janeiro, Instituto de Puericultura e Pediatria Martagão Gesteira, Rio de Janeiro RJ, Brazil.</footnote>
ID: 789

Area: Inborn errors of metabolism

Presentation method: Eletronic Poster

**Case report: infantile cystinosis**

Thais Sena Mombach Barreto¹, Sócrates Salvador, Anelise Uhlmann¹

¹Hospital da Criança Conceição, Porto Alegre RS, Brazil.

*Correspondence: thais.mombachbarreto@gmail.com.

**Abstract**

**Case Presentation:** AMP, 3 years old, male, lower limb hypotonia, renal tubular acidosis, hyperparathyroidism and rickets. Chitotriosity increased in previous exams. Bilaterally altered renal parenchyma, calyceal dilatation and small dilatation of the left renal pelvis. Mild metabolic acidosis, hyponatremia, hypophosphatemia, elevated urea, microalbuminuria, elevated proteinuria/creatinuria ratio, and thyroid-stimulating hormone in the upper limit. Slit lamp examination with corneal deposits of cystine crystals. Normal ENMG. Reduced tone in all four limbs, more so in lower limbs. Multidisciplinary follow-up with nephrology, endocrinology, nutrition, speech therapy and gastroenterology to better clarify the current situation, in addition to severe chronic malnutrition and eating errors identified in this hospitalization. Previous use of calcium carbonate, sodium bicarbonate and vitamin D. Adjusted sodium bicarbonate doses, started phosphorus replacement and discussed plan with multidisciplinary team for other conducts.

**Discussion:** Infantile cystinosis, lysosomal cystine storage disease, is the most common form of cystinosis, affecting 1 in 100,000 to 200,000 children aged 3 to 6 months. Cystine, an oxidized dimer of the amino acid cysteine derived from the degradation of proteins in lysosomes, accumulates within them due to changes in the CTNS gene that encodes cystinosine, a protein that transports cystine, forming crystals with consequent renal and extrarenal signs and symptoms resulting from cell injury and tissue. Patients present with myopathy with generalized muscle atrophy and weakness, especially in distal muscles, in addition to normal cognitive function to mild neurocognitive abnormalities. Diagnosis is made by demonstration of cystine crystals in the cornea by slit lamp examination, genetic testing for pathological variants of CTNS, elevated free cystine in leukocytes or fibroblasts. Therapy includes liquid and electrolyte phosphorus, vitamin D replacement and maintenance, cysteamine as soon as diagnosis is confirmed and kidney transplantation for those who progress to end-stage renal disease.

**Final Comments:** Early initiation and sustained therapy with cysteamine are essential to improve morbidity and mortality, justifying the importance of early diagnosis, however, the context of limited access to both diagnostic methods and cysteamine interferes with this outcome. The involvement of multiple systems represents a challenge for patients and for professionals and caregivers in this pathology.

ID: 790

Area: Neuroinfections

Presentation method: Eletronic Poster

**Epidemiological analysis of meningococcal meningitis in children and adolescents in the Northern region of Brazil during the period of 2018-2022**

Sabrina Costa Coelho¹, Julyana Felipe Mendes¹, Ana Gabriela Pinheiro Monteiro¹

¹Centro Universitário do Pará, Belém PA, Brazil.

*Correspondence: sabrinaccoelho2000@gmail.com.

**Abstract**

**Background:** Meningococcal meningitis is an infection transmitted by direct contact with a Gram-negative bacterium called Neisseria meningitidis. The lethality is high and it is considered a medical emergency that requires mandatory notification. This pathology has a characteristic condition in which there is neck stiffness (Brudzinski and Kernig sign), fever and headache, which may be accompanied by emesis, photophobia and lethargy. The prevention is mainly the Meningococcal C vaccine (Conjugated), the 1st dose must be given in the 3rd month of life of the child, the 2nd dose in the 5th month and the extra dose should be given in the 12th month. The treatment is with antibiotics and should be given as soon as possible to avoid transmission.

**Objective:** Analyze the clinical-epidemiological profile of cases of meningitis in children and adolescents in Northern Brazil.

**Methods:** The method used was a retrospective study in which data were obtained on the DATASUS health information system, through the Notifiable Diseases Information System (SINAN). The chosen inclusion criteria were cases of meningitis notified in the last 5 years, age, sex and disease evolution, the exclusion criteria used were age above 19 years old and other regions of Brazil, such as the northeast, south, southeast and midwest.

**Results:** A total of 1,242 cases of meningitis were reported in the North region among the population under 1 year old up to 19 years old, from 2018 to 2022. Among these cases, 2.17% were related to meningococcemia (MCC), 4.83% were caused by meningococcal meningitis (MM), 2.81% by meningococemia with meningococcal meningitis (MM+MCC), 24.87% cases represented meningitis by other bacteria (MB) and in 26.48% cases of unspecified bacterial meningitis (MNE). The most affected age group was between 10 and 14 years old, with 16 patients being infected by meningococcal meningitis. Finally, it was observed that the most affected sex was the male public and that there were 13 deaths due to MM.

**Conclusion:** Meningitis is a major public health problem, especially in less developed regions, such as northern Brazil. However, if treated correctly, the disease has a good prognosis with a significant recovery rate. The application of the Meningococcal C (Conjugate) vaccine in the first months of life has the potential to further reduce the number of cases and deaths from bacterial meningitis. The need for actions aimed at reducing neuroinfections, such as meningitis, in children and adolescents, is crucial.

ID: 793

Area: Others

Presentation method: Eletronic Poster

**Atypical Bell's palsy in a child under 3 years**

Jéssica Krieger de Souza¹*, Andrea Rizzuto de Oliveira Weinmann¹, Carolina Pincelli Carrijo¹, Juliana Andrade Queiroz¹, Maria Emília De Arnaldo Silva¹, Vívian Magalhães Domingues¹

¹Hospital Regional do Mato Grosso do Sul, Campo Grande MS, Brazil.
*Correspondence: kita_krieger@hotmail.com.

**Abstract**

**Case Presentation:** S.B.V.M., female, 2 years and 6 months old, white, attended the Pediatric Emergency Room, with a history of cough, runny nose and intermittent febrile episodes, of a prolonged nature and oscillation of clinical improvement, for about 30 days, evolving with facial paralysis peripheral. Upon admission, he presented with left facial paralysis and ipsilateral palpebral ptosis. Patient with a history of prematurity did not undergo routine follow-up. He had a head circumference of 50.5 cm (score 97), megalencephaly, questioning other associated causes. Cranial Computed Tomography showed dilatation of the supra and infratentorial ventricular system, the etiology of which remains to be clarified. Type 1 blood and urine laboratory tests showed leukocytosis and associated bacteriuria. After being medicated with prednisone 1mg/kg/ day and ceftriaxone 100mg/kg/day, the patient had improvement of symptoms, with complete regression of paralysis and without other types of complications, not requiring a hydrocephalus approach.

**Discussion:** Peripheral Facial Palsy or Bell's is a disease clinically characterized by the involvement of the 7th cranial nerve, acutely, relating to pain complaints such as in the mastoid region and resulting in complete or partial paralysis of facial movements. It can be triggered by several causes, from viral infections as well as developing idiopathically. The diagnosis is made by the clinic and may make use of complementary tests such as computed tomography and nuclear magnetic resonance. Study carried out with the objective of reporting a case of Bell's Palsy, caused by the viral form, is increasingly relevant in pediatric observations, as it is uncommon in the age group described. In this work, radiological study, direct contact with the patient and medical record review were carried out.

**Final Comments:** Bell's Palsy is a rare syndrome in children, mainly under 10 years of age and its diagnosis has important therapeutic implications and good prognosis, due to the reversibility of the lesions with adequate and timely treatment. On the other hand, if not treated correctly, it can evolve with complications and/or sequelae. In the case of the patient in this report, it was possible to detect clinical signs early, reversing the lesions, with a favorable outcome of the condition through rapid control of the evolution of facial paralysis.

ID: 794

**Area: Neurological manifestations of systemic diseases**

**Presentation method: Eletronic Poster**

**Diagnosis of neurological lupus after altered mental status in the emergency room: case report**

Emerson Faria Borges<fnref n="1" />, Larissa Rosa Passos<fnref n="1" />, Thayná Siqueira Lipienski<fnref n="1" />, Carolina Cabral Brandalizze<fnref n="1" />, Camila Ferreira Lima<fnref n="1" />, Marina Hideko Kinoshita Assahide<fnref n="1" />, Márcia Bandeira<fnref n="1" />, Gabriela Fávaro Zavan<fnref n="1" />

*Correspondence: emersonfariab@gmail.com.

**Abstract**

**Case Presentation:** A.G.G.P., male, 11 years old, Caucasian, previously healthy. Admitted in emergency intubated due to decreased level consciousness (Glasgow Coma Scale = 5) after a seizure. Previously, he had intermittent fever and holocranial headache for 15 days, diarrhea and vomiting for 5 days. Complementary neurological exams, including magnetic resonance,

were unremarkable. During hospitalization in intensive therapy unit, hypertension was observed since admission and urinalysis demonstrating microscopic hematuria and macroalbuminuria. In evolution, the patient presented pleural effusion, consumption of C3 (37 mg/dL) and CH50 (17.5 U/mL), hemolytic anemia, ANA-positive (1/160 fine speckled pattern), lupus anticoagulant and anticardiolipin positives, therefore the diagnosis of lupus was drawn. He presented complete recovery of the neurological symtomps, following up with rheumatology.

**Discussion:** Only 8-15% of systemic lupus erythematosus (SLE) presents it before the age of 16, usually more aggressively and less responsive to treatment. The predominance is higher in females even in the prepubertal age group. The average age of onset of juvenile SLE is 12 years, and the younger the age, the more likely the disease is to begin atypically. The most common initial manifestations are hematological (55-77%), dermatological (70%), and renal (27-59%). Neurological manifestations may occur in up to 2/3 of young individuals with SLE, the most common being headache, followed by seizures, psychosis, cognitive impairment, behavioral changes, and movement disorders.

**Final Comments:** Besides the typical organic symptoms, behind such a complex autoimmune disease there is a wide range of variants, such as cognitive alteration, anxiety disorders, and depression that correlate with disease activity. The picture of altered level of consciousness can encompass several manifestations, whether or not they are directly related to SLE. To attribute the lowered level of consciousness to the disease, other causes must be ruled out.

ID: 796

**Area: Neurogenetics**

**Presentation method: Eletronic Poster**

**Case report: neurogenic bladder associated with chromosome 10q26 deletion syndrome**

Laura Reis Vilela<fnref n="1" />, Camila Amaral Venuto Anunciação<fnref n="1" />, Sarah Reis Vilela<fnref n="1" />, Pedro Lemgruber Xavier Mattoso Pavie<fnref n="1" />

*Correspondence: reisvlaura@gmail.com.

**Abstract**

**Case Presentation:** This is a case report regarding A.B.M.B., 3 years old, that by the age of 5-months-old, a female baby, the second child of healthy and unrelated parents, was admitted 3 times due to febrile urinary tract infection in a tertiary pediatrics hospital. All episodes were well documented with a positive urine culture. During the last hospitalization she had a seizure secondary to a urinary tract sepsis. After discharge, she was referred to the pediatric nephrology out-patient service. During thorough investigation, a Renal ultrasound showed bilateral hydronephrosis and a thick-walled bladder, and a Cystourethrogram showed an enlarged bladder with lobulated and trabeculated walls and sparse small diverticula, suggesting straining or dysfunctional bladder. During clinical investigation of the etiologic cause, other features were observed including craniofacial anomalies (trigonocephaly, deep eye sockets, bilateral thick overfolded helices, slight facial asymmetry, broad nasal bridge), developmental delay and malnutrition. The patient was referred to Genetics service and further tests showed a Karyotype 46, XX. Array-CGH Analysis showed deletion 10q26.3 (131212109_135426386) x1 and deletion 14q23.3 (67041152_67123422) x1. The

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

<footnote n="1">¹Hospital Materno Infantil De Brasília, Brasília DF, Brazil.</footnote>
10q26.3 microdeletion was classified as potentially pathogenic.

**Discussion:** The 10q26 deletion syndrome is a rare heterogeneous disorder, with less than 1 case per million people. The most common phenotypic characteristics include pre-and/or postnatal growth retardation, microcephaly, developmental delay/intellectual disability, hypotonia, epilepsy and facial appearance consisting of broad nasal bridge with prominent nose, low-set malformed ears and strabismus. Some characteristics are occasionally observed, including limb, cardiac and urogenital anomalies such as neurogenic bladder. Early diagnosis is important so physicians can be aware of possible complications and comorbidities and provide early intervention.

**Final Comments:** The 10q26 deletion syndrome is a condition that results from the deletion of a small piece on the long (q) arm of chromosome 10, designated 10q26. The signs and symptoms of 10q26 deletion syndrome vary widely. Although genetic tests are becoming more accessible, we still need to pay special attention to unusual presentations and identify potentially pathological variances and dysmorphic features so we can establish more specific diagnosis and more adequate treatment, avoiding complications.

ID: 798

**Area: Neonatal neurology**

**Presentation method: Oral Presentation**

**Qualitative and quantitative analysis of epileptic seizures in neonates with moderate and severe hypoxic-ischemic encephalopathy undergoing therapeutic hypothermia**

Loiane Dante Correia Rocha<fnref n="1" />*, Debora Carinhato Thomaz<fnref n="1" />, Paula Girotto Fonseca<fnref n="1" />, Marcilia Lima Martyn<fnref n="1" />, Rafaela Fabri Rodrigues Pietrobom<fnref n="1" />, Paulo Breinis<fnref n="1" />, Mauricio Magalhaes<fnref n="1" />

*Correspondence: loiane_11@hotmail.com.

**Abstract**

**Background:** Epileptic seizures are the most common neurological emergency in the neonatal period and one of its main causes is hypoxic-ischemic encephalopathy. The diagnosis of seizures is difficult, particularly in critically ill newborns in an intensive care setting. In addition, many newborns will have mainly or exclusively electrographic seizures, configuring the importance of the electroencephalogram (EEG), amplitude-integrated EEG (aEEG) and video EEG in the identification and treatment of these events.

**Objective:** Qualitative and quantitative analysis of epileptic seizures in neonates with moderate and severe hypoxic-ischemic encephalopathy (HIE) undergoing therapeutic hypothermia (TH).

**Methods:** Retrospective observational study, carried out in a neurological referral neonatal intensive care unit in São Paulo. Neonates with moderate and severe HIE were selected, undergoing TH between 2018 and 2022. Neonatal seizures were evaluated with aEEG associated with crude EEG, video image (vídeo aEEG) and experienced clinical staff throughout the TH protocol. Modified Sarnat and Sarnat Scale was used for clinical assessment of patient's neurological impairment.

**Results:** We reviewed 128 cases. Regarding the qualitative analysis of epileptic seizures, 31 patients (24%) had neonatal seizures. Of these, 5 (16%) of the newborns had clinical seizures and in 26 patients (84%) electrographic-only seizures were identified. In the quantitative analysis of the 31 patients who had neonatal seizures, 10 seizures (32%) have occurred

on isolation way whether clinical or electrographic. However, the seizures have recurred in 21 patients (68%). Regarding therapy, 30 patients (97%) with present epileptic activity received antiseizure medication. 8 patients (26%) even received two medications. In 2 patients (6%), a third antiseizure was used and only 1 patient in the study (3%) was medicated with 4 antiseizure, not necessarily concomitantly.

**Conclusion:** The study found that 84% of patients with moderate and severe hypoxic-ischemic encephalopathy undergoing therapeutic hypothermia had electrographic seizures. We also found that most patients had more than one crisis. In this sense, we highlight the importance of continuous electrographic monitoring in the management of these patients and consequent improvement in neurological prognosis

ID: 799

**Area: Neonatal neurology**

**Presentation method: Presentation Poster**

**The brain tissue samples of newborn infants suffering from hypoxic-ischemic insult in germinal matrix region: NF-kB/ Parkin/ VEGFR-1 pathway**

Eliane Amaral Ghirelli<fnref n="1" />,<fnref n="2" />, Felipe Paes Gomes da Silva<fnref n="1" />,<fnref n="2" />*, Alessandro Gonçalves Gomes Oricil<fnref n="1" />,<fnref n="2" />, Caroline Busatta Vaz de Paula<fnref n="1" />,<fnref n="2" />, Seigo Nagashima<fnref n="1" />,<fnref n="2" />, Lucia de Noronha<fnref n="1" />,<fnref n="2" />

*Correspondence: paes.silva@pucpr.edu.br.

**Abstract**

**Background:** The hypoxic-ischemic insult is one of the current leading causes of neonatal deaths. The germinal matrix (GM) of the Central Nervous System (CNS) is a highly vascularized region susceptible to hemorrhagic damage in the face of a hypoxic environment. Considering the high activity of the GM until the thirty-sixth gestational week and its intrinsic link to hypoxemia and, consequently, neural damage with sequelae or death, investigating molecular pathways associated with the hypoxic event is crucial to mitigate morbidity and mortality.

**Objective:** Therefore, the present study evaluated, throughout immunohistochemistry, cell survival markers (AKT-3, Parkin, and TRK-C), cell transcription (NF-kB), and angiogenic factor (VEGFR-1), to understand the connection of these markers in the GM and the hypoxic-ischemic insult of newborns.

**Methods:** The study comprised 118 post-mortem samples of a paraffin-embedded GM from premature and full-term patients who died within the first 28 days of life, divided into two groups related to CNS immaturity (extremely immature CNS and not immature CNS). Histopathological and immunohistochemical were used to analyze the AKT-3, NF-kB, Parkin, TRK-C, and VEGFR-1 markers in the conditions of asphyxia, prematurity, and death events within 24h.

**Results:** By evaluating the tissue immunoexpression of the markers in term and premature newborns, a possible molecular pathway was found with the interaction between the temporality of death within the first 24 hours and the transcription factor NF-kB and the angiogenic marker VEGFR-1, which were significantly decreased. Furthermore, there was an increase in tissue immunoexpression of NF-kB, AKT-3, and Parkin markers in the GM of prematurely aged patients.

**Conclusion:** Considering that the AKT-3 and Parkin markers showed a significantly increased, a high proliferative activity

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

<footnote n="1">¹Pontifícia Universidade Católica do Paraná, Curitiba PR, Brazil.</footnote>

<footnote n="2">²Universidade Federal do Paraná, Curitiba PR, Brazil.</footnote>
of GM and a possibility of protection against an ischemic insult is suggested. However, both NF-kB and its pro-cursor VEGFR-1 were significantly reduced compared to the survival time, proposing an insufficient time for the transcription and expression of VEGFR-1 in the plasmatic membrane, leading to a decreased protective activity. Therefore, this study is ongoing to identify a possible clinical marker in serum level to signal the ischemic hypoxic insult during the postpartum procedure, treating it as soon as possible.

ID: 800

Area: Neuromuscular diseases

Presentation method: Presentation
Poster

Epilepsy and Duchenne muscular dystrophy: prevalence and genetic characteristics in a tertiary hospital sample

Mariana Piva da Costa<fnref n="1" />, Cristiani Rocha Lima Cruz<fnref n="1" />, Joemir Jábson da Conceição Brito<fnref n="1" />, Andreia Braga Mota Azzoni<fnref n="1" />, Karlla Danielle Ferreira Lima<fnref n="1" />, Camila Lupepsa Latyki Justus<fnref n="1" />, Eric Oneda Sakai<fnref n="1" />, Marco Antonio Veloso de Albuquerque, Edmar Zanoteli<fnref n="1" />

Abstract

**Background:** Epilepsy in patients with Duchenne muscular dystrophy (DMD) was previously described as a rare entity. However, new studies suggest that such an association is more common than previously thought, with the prevalence of epilepsy in patients with DMD being 3.14 to 8%, higher than the general population (0.5 to 1%).

**Objective:** To assess the prevalence of epilepsy in patients with DMD, in addition to its characteristics and relationship with the type of genetic mutation.

**Methods:** A retrospective study based on the analysis of medical records of DMD patients from an outpatient clinic at a tertiary hospital in São Paulo, Brazil. The following data were collected: age, type of genetic mutation, presence and type of epilepsy, characteristics of the electroencephalogram (EEG), amount of anti-epileptic drugs in use and presence of neurodevelopmental disorders.

**Results:** A sample of 144 DMD patients was evaluated, 4 (2.8%) had epilepsy and the mean age was 12.6 years. Among the patients with epilepsy, one had focal seizures with EEG findings of multifocal epileptiform paroxysms and frameshift mutation in exon 56 of the DMD gene. Another patient had generalized seizures and EEG with generalized poly-spike wave discharges and frameshift mutation in exon 59 of the DMD gene. One patient had no record of seizure type or EEG characteristics, with a frameshift mutation in exon 2 of the DMD gene. The last patient developed refractory epilepsy with encephalopathy, had focal seizures with EEG findings of multifocal epileptiform paroxysms and two clinical-electrographic seizures characterized by rapid right frontotemporal projection activity. Genetic analysis showed deletion of exons 46 to 48 of the DMD gene. Given the presence of encephalopathy, an exome analysis was performed, with the finding of a heterozygous mutation in the GABRG2 gene (associated with epileptic encephalopathy).

**Conclusion:** The sample of DMD patients showed a higher prevalence of epilepsy when compared to the general population. The genetic analysis showed mostly mutations downstream of exon 45 of the DMD gene, a region related to the

Dp140- isoform, expressed in the CNS and possibly related to the pathophysiology of epilepsy in these patients. One of the patients with epilepsy also had a mutation in the GABRG2 gene, showing the importance of extending the diagnostic workup in cases of refractory epilepsy. Therefore, further studies are needed to understand the relationship between DMD and epilepsy.

ID: 801

Area: Malformations of the central nervous system

Presentation method: Presentation
Poster

Vein of Galen malformation with high output cardiac failure and premature endovascular therapy: a case report

Sarah Reis Vilela<fnref n="1" />,<fnref n="2" />, Laura Reis Vilela<fnref n="1" />,<fnref n="2" />, Pedro Lemgruber Xavier Mattoso Pavie<fnref n="1" />,<fnref n="2" />, Antonella Albuquerque Nascimento<fnref n="1" />,<fnref n="2" />

Abstract

**Case Presentation:** This case reports an eight-months-old patient that was prenatally diagnosed with Vein of Galen Aneurysmal Malformation (VGAM), presenting cardiomegaly and severe anemia. At birth, progressed to severe pulmonary hypertension. At 11 days old, an early endovascular procedure was performed. Despite that, the patient progressed to high-output heart failure, relying on high doses of diuretic therapy, vasodilators, and oxygen therapy. A new CT angiography showed an aneurysmal venous structure with multiple dilated and tortuous supplying arteries. A new endovascular procedure was then performed. The child underwent cardio-genic shock in the immediate postoperative period. After a period of hospitalization, the patient was discharged at four months old, on room air, with an ascending weight curve, although still using diuretics to manage cardiac failure. The child has been reaching the neuropsychomotor development milestones corresponding to their chronological age.

**Discussion:** VGAM is a rare condition, corresponding to 1% of all cerebrovascular malformations, being the most frequent shunt in pediatrics. Untreated, they are 100% fatal. Heart failure, seen in most of these patients, is challenging to manage. Its total resolution is only possible with the correction of arteriovenous fistulas. The ideal time to perform the corrective procedure is a significant point of debate, the patient in question required two early interventions. More than 70% of the cases have a complete/near-complete resolution with only one embolization. However, subsequent approaches may be necessary. Up to 66% of patients will present complications with asymptomatic ventriculomegaly, but only 15% will present hydrocephalus with signs of intracranial hypertension. Previous studies have shown rates of adequate neuropsychomotor development in up to 60% of surviving cases. Recent studies, however, have shown that when prolonged neurological follow-up is performed up to the school stage, the prognosis may be more guarded. Even children with good neurological development will present weakness and deficits in memory and concentration.

**Final Comments:** Current endovascular intervention techniques have improved quality of life and prognosis. However, mortality rates can still reach up to 30%. It is essential for neurologists and pediatricians to know this pathology, its expected evolutionary course, and current evidence so they

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

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

<footnote n="1">¹Hospital de Base do Distrito Federal, Brasília DF, Brazil.</footnote>

<footnote n="2">²Hospital Materno e Infantil de Brasília, Brasília DF, Brazil.</footnote>

<footnote>*Correspondence: reisarah14@gmail.com.</footnote>
can identify delays and deficits in neurological development and thus provide early interventions.

ID: 802

Area: Neuromuscular diseases

Presentation method: Presentation
Poster

Spinal muscular atrophy: therapeutic success, follow-up
and perspectives of therapeutic benefit – a guide from
specialists

Edmar Zanoteli¹, Flávia Nardes², Hélio van der Linden³, Juliana
Gurgel Giannetti⁴, Marcela Machado Costa⁵, Michele Becker⁶

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

²Universidade Federal do Rio de Janeiro, Faculdade de Medicina,
Departamento de Neuropediatria, Rio de Janeiro RJ, Brazil.

³Centro Estadual de Reabilitação e Readaptação Dr. Henrique
Santillo, Goiânia GO, Brazil.

⁴Universidade Federal de Minas Gerais, Hospital das Clínicas,
Departamento de Neurologia Pediátrica, Belo Horizonte MG, Brazil.

⁵Escola Bahiana de Medicina e Saúde Pública, Salvador BA, Brazil.

⁶Hospital de Clínicas, Ambulatório Infantil de Doenças Neuromusculares, Porto Alegre, Porto Alegre RS, Brazil.

*Correspondence: edmar.zanoteli@usp.br.

Abstract

**Background:** The 5q spinal muscular atrophy (5qSMA) is a progressive and rare neuromuscular disease, whose clinical outcomes have improved with the introduction of innovative therapies, as well as the improvement of rehabilitation and multidisciplinary care. Despite these advances and therapeutic approaches, the management of 5qSMA remains challenging given the variability of clinical presentation, different assessment tools, complex and costly treatments, and the absence of management guidelines that apply to all.

**Objective:** The authors developed a guide to describe a common pattern of 5qSMA phenotypes and its treatment perspectives in order to obtain a rationale that covers the concept of therapeutic success with the follow-up steps and the perspective of benefit, which have not yet been clearly established in the academic literature.

**Methods:** In an innovative way, the six specialists in neurology and neuropediatrics got together to discuss and define what can be considered a therapeutic success and its implications in 5qSMA. The authors belong to specialized reference centers for 5qSMA management and represent six Brazilian States.

**Results:** Treatment choice in 5qSMA may consider the clinical condition, the environment and social context of patients and families, as well as access to treatment. The physician should consider these factors and talk to the families so that a therapeutic decision can be reached based on continuity and adherence to treatment. Despite no cure available to date to 5qSMA, the concept of therapeutic success in those patients is directly related to the achievement of one or more goals outlined individually, which may support the follow-up of treatment outcomes, thus setting the correct expectations for both multidisciplinary teams and patients/families. Based on this, the authors outlined the benefit perspectives, objectives, and desired assessment time windows for different SMA types under treatment.

**Conclusion:** Patients with the same diagnosis may have similar treatment strategies, but never the same considering their gains and needs, so physicians should discourage unrealistic

comparisons between patients and families. Providing minimally sufficient information and parameters so that professionals can better assess different patients, outline individualized objectives, ground the therapeutic choices, and monitor their patients in a planned way, considering the involvement of family and caregivers is ultimately aimed at optimizing overall treatment outcomes.

ID: 804

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

Presentation method: Eletronic Poster

Childhood diagnosis of Osler-Weber-Rendu syndrome

Cristiani Rocha Lima Cruz¹, Mariana Piva da Costa¹*, Yan Victor Araujo Rodrigues¹, Leandro Alves Mendes¹, Andreia Braga Mota Azzoni¹, Larissa Baccoli de Souza¹, Flora Cruz de Almeida Ximenes¹, Daniel Shoji Hayashi¹, Ronan José Vieira Neto¹

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

*Correspondence: marianaflpiva@gmail.com.

Abstract

**Case Presentation:** An eleven-year-old boy, from Ceará (Brazil), born from non-consanguineous parents. His first symptoms started at eight months old, with multiple episodes of epistaxis and multiple hospitalizations due to respiratory distress. At age seven, he sought medical care due to low hearing and low oxygen saturation. During initial investigation in the emergency room, an echocardiogram was performed compatible with pulmonary fistulas. Family history was positive on the patient's father side (his father and paternal uncles) for epistaxis since childhood without other complications. On examination, several telangiectasias were seen on his face, back and limbs, as well as a flat hemangioma in the region of the lumbar spine with no changes on neurological examination. An Angiography of the brain was performed which showed a vascular pattern on the surface of the left inferior parietal lobe. After carrying out a genetic investigation with whole exome sequencing it was identified a heterozygous mutation NM_0001183.C1121_1122DELINSgc p(Lys374Ser), leading to the diagnosis of Hereditary hemorrhagic telangiectasia. On follow up imaging, the patient presented a new entanglement of vessels in the upper region of the left caudate nucleus.

**Discussion:** Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is an autosomal dominant disorder that causes abnormal blood vessel formation. The patients may have telangiectasias and arteriovenous malformations in various organs and can suffer from many complications including bleeding, anemia and high-output heart failure. Families with the same mutation exhibit considerable phenotypic variation, which is probably what happens in our patient's paternal side of the family.

**Final Comments:** Our case adds to the medical literature one more case of a rare disease with probable milder phenotypes in the paternal family.