**Background:** Congenital syphilis is a disease caused by Treponema pallidum, which infects pregnant woman and is transmitted transplacentally. The current recommendation in Brazil is to perform theVDRL test in the first and last trimester of pregnancy, during prenatal care. If the test is positive, treatment with penicillin should be started as soon as possible, considering the beneficial effects for both fetus and the mother (Category B). Inadequate or late treatment can lead to miscarriage, acute complications, and prematurity. In addition, the newborn may present significant neurological problems, divided into early and late stages, with the former consisting of abnormalities in cerebrospinal fluid with reactivity ofVDRL and proteinorrhea, the latter can be seen through developmental delay, seizures, and hydrocephalus.

**Objective:** To analyze the epidemiological profile of congenital syphilis in northern Brazil, assessing its prevalence in the states and which would be the most affected.

**Methods:** The study was done by a retrospective analysis based on data from the Information System on Notifiable Diseases (SINAN) obtained through the Health Information System of DATASUS. Inclusion criteria included confirmed cases in all Northern states from 2017 to 2021, in the age group 0-12 years.

**Results:** 9,464 confirmed cases of congenital syphilis were reported in the Northern region from 2017 to 2021 in children aged 0-12 years. 40.03% of cases were in the state of Pará (PA), 30.51% in Amazonas (AM), 12.46% in Tocantins (TO), 5.49% in Amapá (AP), 4.5% in Rondônia (RO), 4.02% in Acre (AC), and 2.99% in Roraima (RR). Among the states with the highest percentage, in Pará, the year with the highest number of notifications was 2019, with 945 cases. While in Amazonas and Tocantins, it was in 2017, with 804 and 288 cases reported, respectively.

**Conclusion:** The study concluded that congenital syphilis is a serious health problem to both mother and newborns. Despite being a systemic disease, it can affect various organs, including the nervous system. It has high prevalence in the Northern region of Brazil, this scenario highlights the need for more information on the importance of prenatal care to be disseminated in this population.

ID: 899

Area: Others

Presentation method: Presentation Poster

**Access to pediatric neurology- does it work? Lessons from SISREG in a tertiary center**

Alessandra Augusta Barroso Penna e Costa¹, Ana Maria Rafalski¹

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

*Correspondence: aapennaecosta@gmail.com.

**Abstract**

**Background:** Since the creation of the regulation system eletronic guide (SISREG), attempts were made to provide the three fundamental pillars of the Brazilian health system (SUS): equity, universiality and integrity. But, as the years go by, it seems that the sus users do not reach certain medical specialities, like pediatric neurology. This is an observational study in a tertiary center in Rio de Janeiro during 2021-2022 showing the results of the access to pediatric neurology outpatient service.

**Objective:** To show the results of the access to first time medical neuropediatric appointment through SISREG between the years 2021-2022 in Fernandes Figueira Institute (IFF), a tertiary hospital in Rio de Janeiro city - Brazil.

**Method:** Observational study.

**Results:** During 2021, a total of 145 first time medical appointments were made through SISREG: the absence was 38% of total of the appointments, 33% of the patiets were absorbed and 29% were out of the profile from the tertiary pediatric neurology centre . In 2022 the results were 203 appointments, the absence was 33%, 43% were absorbed and 21% were out of profile.

**Conclusion:** Our numbers, although, show a very high absence and wrong referrals, they indicate that the access to a pediatric neurology center is limited and makes us suppose that the children that need neuropediatric follow up have no access at all. By 2023, the wait list for an appointment in a neuropediatric outpatient service in the city of Rio de Janeiro had reached 8.000 children from newborn to 18 years old.

ID: 900

Area: Epilepsies

Presentation method: Eletronic Poster

**Atypical Dravet by PC-DH19: case report**

Jamile Bonini Hadaya¹, Ana Chrystina de Souza Crippa¹, Rafael Lima de Almeida¹, Kathielen Fortes Rosler¹, Camila Guimarães Parrela¹, Maytza Mayndra Correa¹, Leticia Pugim Ferreira¹

¹Universidade Federal do Paraná, Curitiba PR, Brazil.

*Correspondence: jamilehadaya@gmail.com.

**Abstract**

**Case Presentation:** M.M.O, female, 3 years old, non-consanguineous parents, without neonatal complications, with language delay and social deficit. At 4 months of age, presented the first generalized tonic-clonic convulsive crisis associated with fever, after vaccination. She involved refractory epilepsy with atypical absence seizures, myoclonus and focal seizures. She had several admissions to the intensive care unit due to status epilepticus. The electroencephalogram showed slightly disorganized baseline activity and no records of epileptiform paroxysms, and skull MRI showed no alterations. Genetic research was investigated, which identified protocadherin 19 mutation (PC-DH19). She had characteristics of the autism spectrum disorder, lacks adequate socialization and functional speech. She used Levetiracetam at a maximum dose (60mg/kg/day) without seizure control. She presented with drug-induced hepatitis with Valproic Acid at a dose of 18mg/kg/day and Phenobarbital before the genetic diagnosis. Currently, she is using cannabidiol 10mg/kg/day and is starting Stiripentol 20mg/Kg/day with partial control of the crises.

**Discussion:** PCDH19-related epilepsy is an emerging epileptic syndrome characterized by the occurrence of epilepsy in female patients associated with mental retardation and autistic features in most cases. It shares many features with Dravet syndrome (DS): age at onset, normal development before onset, fever sensitivity, cognitive impairment during disease activity, refractory epilepsy.

**Final Comments:** To date, clinical studies of Stiripentol have always focused on DS. The design of new epileptic syndromes, such as PCDH19-related epilepsy, opens up new scenarios for the use of this medication.
ID: 902

## Area: Malformations of the central nervous system

## Presentation method: Presentation Poster

### Rare pathology caused by alteration in EXOSC9 gene

Mariana Lasmar Corrêa<fnref n="1" />,<fnref n="2" />, Lara Ramos Vasconcelos<fnref n="1" />,<fnref n="2" />, Larissa Maria Soares Lyrio<fnref n="1" />,<fnref n="2" />, Luana Alves de Andrade<fnref n="1" />,<fnref n="2" />, Marcelly Aparecida Teixeira Rodrigues<fnref n="1" />,<fnref n="2" />, Letícia Souza Santos<fnref n="1" />,<fnref n="2" />, Thaynan Oliveira Nunes<fnref n="1" />,<fnref n="2" />, Nathalia Ferreira Souza<fnref n="1" />,<fnref n="2" />, Larissa Carvalho Oliveira<fnref n="1" />,<fnref n="2" />

**Correspondence:** mariana.correa@aluno.unifenas.br.
**Abstract**

**Case Presentation:** G. T. S. D. S., 1 year and 2 months old, male patient, diagnosed with the rare condition of Pontocerebellar Hypoplasia Type 1D (PCH1D), resulted from an alteration in the EXOSC9 gene. Son of non-consanguineous parents. Prenatal care was complete. The patient was born by vaginal delivery without complications, at 36 weeks and 6 days of gestational age, with the following measurements: height = 44.5 cm, weight = 2660 kg, head circumference = 33.8 cm.

**Discussion:** At 2 months old, the first symptom was noticed: looking up fixedly. The investigation began: electroencephalogram, cranial computed tomography and cranial magnetic resonance - all within normal results. The family consulted a geneticist who ordered screening tests for inborn errors of metabolism. All with unchanged results. After 3 months, he started rehabilitation and showed improvement: he still could not support his head by himself, but was able to rotate his neck. At 6 months-old he started having several spasms during the day. Valproic acid was administered, but adverse reactions of drowsiness caused it to be discontinued before 1 month of use, vigabatrin was introduced and after one month the spasms completely ceased. Currently, the patient remains under specialized follow-up and uses vigabatrin 500 mg daily. Exome sequencing test and a new magnetic resonance imaging were performed and respectively evidenced a homozygous variant of the EXOCS9 gene (NM_001034194.1: c.41T>C-p.Leu14Pro) and pontocerebellar hypoplasia. After 7 months, he stopped gaining weight which demanded follow-up with gastropediatrics and nutritionist. He has since required a gastrostomy to be able to receive a complete diet.

**Final Comments:** Besides the present case, only 10 others with the same variant in the EXOCS9 gene (NM_001034194.1: c.41T>Cp.Leu14Pro) were reported, which represents 60% of the total reported cases of Pontocerebellar Hypoplasia Type 1D (PCH1D). It is a severe autosomal recessive neurological disorder characterized by severe hypotonia and an apparent motor neuronopathy, and also includes severe delay in gross motor development. Patients may present slow growth rates, contractures, eye movement abnormalities, respiratory failure and feeding difficulties, and epilepsy. The case highlights the importance of the molecular study for both predicting prognosis and for family orientation in similar situations.

ID: 903

## Area: Sleep disorders

## Presentation method: Eletronic Poster

### Prevalence of sleep disorders in children with congenital Zika virus syndrome in a reference service in the state of Ceará

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

**Correspondence:** ivna.felice@gmail.com.
**Abstract**

**Background:** In the general pediatric population, sleep disorders affect approximately 25% of children. As for neurodevelopmental disorders, 50% to 95% of individuals may have sleep disorders that constitute a risk of mitigating problematic daytime behaviors and poor cognitive and academic performance. However, the information is still available regarding whether a specific sleep profile is observed in distinct syndromes and whether these sleep problems are persistent and chronic. The development of sleep and wakefulness states begins in fetal life and is closely linked to the maturation of the Central Nervous System (CNS). Sleep problems impair child development and negatively impact learning and quality of life, being reported in children with neurological impairments. Considering the brain anomalies present in children with congenital Zika syndrome and the neurological vulnerability for sleep-wake regulation, it is likely that these children are more likely to have sleep problems.

**Objective:** Discuss the prevalence of sleep disorders evidenced in patients diagnosed with congenital Zika Virus syndrome followed in a reference service for the condition in a tertiary public hospital in the state of Ceará.

**Methods:** This was a quantitative, descriptive, retrospective, and observational study conducted from 2016 to 2018 using medical records data from a tertiary public hospital in the state of Ceará. Inclusion criteria were as follows: (1) diagnosis of CZVS and (2) availability of cranial CT or MRI images. Approval was obtained from the local ethics committee with CAAE 57109816700005042.

**Results:** In 207 cases, only 44 patients were evaluated for sleep disorders. Of the total of 44 patients, 17 (38.63%) had sleep disorders (unspecified) and 27 (61.37%) had no sleep disorders. Regarding those who had sleep disorders, 8 are female (17.7%) and 9 (20%) are male, the age of these patients ranged from 1 year and 6 months to 3 years and 3 months, at median age was 37 months.

**Conclusion:** Some studies cite a greater probability of children with Congenital Zika Virus Syndrome to develop sleep disorders, but the literature still cannot establish whether in fact sleep disorders are really connected to the syndrome, as there is a lack of research that investigates the relationship between changes in sleep quality in children with microcephaly and Zika virus infection. Therefore, it is necessary that more studies on the subject be carried out.

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

<footnote n="2">²Universidade José do Rosário Vellano, Alfenas MG, Brazil.</footnote>

<footnote n="1">¹Centro Universitário Christus, Fortaleza CE, Brazil.</footnote>
ID: 904

Area: Others

Presentation method: Eletronic Poster

Acute ataxias in children at the emergency unit of do HCFMRP-USP: case series

Amanda Miranda Brito Araújo<fnref n="1" />*, Jaqueline Mendonça Gondim<fnref n="1" />,
Laura Domingues Fuster Pinheiro<fnref n="1" />, Roberta Fantuzzi Borges<fnref n="1" />,
Amanda Póvoa de Paiva<fnref n="1" />, Maria Avanise Yumi Minami<fnref n="1" />, Ana
Paula de Andrade Hamad<fnref n="1" />

Abstract

**Background:** Ataxia consists of a disturbance in gait and motor coordination, and it is an uncommon neurological complaint in the pediatric age group. Children with acute ataxia represent a diagnostic challenge due to their numerous differential diagnoses.

**Objective:** Evaluate the etiology and approach of acute ataxias in a pediatric emergency service, describing the propaedeutic follow-up in the diagnostic investigation.

**Method:** This is a retrospective review of the medical records of children with complaints of acute ataxia treated at the Unidade de Emergência do Hospital das Clínicas de Ribeirão Preto (UE HCRP-USP). A total of five children with ataxia aged 1-18 years were identified, from January to April 2023. All children had gait ataxia as their main complaint when

seeking medical care. The clinical evolution of the cases,
laboratory and imaging tests used for the diagnosis of ataxia
etiologies were analyzed.

**Results:** Of the five patients with acute gait ataxia from January to April 2023, three were female and two were male and the average age was 4.7 years. All patients had a history of acute onset of postural and/or appendicular instability. Three patients presented, in addition to ataxia, alarm signs that required immediate head computed tomography (CT), such as a history of traumatic brain injury (TBI), sudden onset headache associated with vomiting and refractory to analgesics, papilledema and altered level of consciousness. In three cases, cerebrospinal fluid collection was also necessary, two of them with extension to viral PCR due to the hypothesis of post-infectious cerebellitis and one of them due to an imaging finding suggestive of neoplasia. Only in one case was post-infectious cerebellitis confirmed. In two of the cases, the etiology of the ataxia was defined only by imaging findings, one of them being a subdural hematoma secondary to TBI and the other a venous malformation in the cerebellar hemisphere. Only one case has an unknown etiology, with spontaneous improvement of the ataxia and complementary exams without alterations.

**Conclusion:** In just four months, five cases of acute ataxias were treated, registering a high incidence in the service, despite the condition being uncommon in the pediatric age group. The most common cause of acute ataxias is post-infectious cerebellitis, found in only one of the recorded cases. Although one of the cases remains undiagnosed, it is concluded that there is a good rate of etiologies defined in the service.

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

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