Dados do Trabalho

Título

CHARACTERIZATION OF ATAXIAS IN CHILDHOOD: CASE SERIES

Introdução

Introduction: The etiology of ataxias in children and teenagers is varied, but the most common are acquired: infectious/inflammatory, metabolic disorders and neoplasms. However, genetic ataxias must be remembered. Ataxia can be the main sign or in association with other neurological manifestations. To diagnose the etiology of the ataxias, it is very important to have a detailed neurological examination and to observe family history. They are necessary to understand the underlying genetic mechanisms.

Objetivo

Objective: To describe the main causes of genetic ataxias among children and teenagers at a reference center for rare diseases.

Método

Methods: This is a cross-sectional, observational and descriptive study based on a review of the medical records of the Neurogenetics outpatient clinic at a rare disease reference center. This study was approved by the Research and Ethics Committee, in 2023

Resultados

Results: Of the 47 patients identified, 49% were female. The age ranged from 2 to 39 years, with 40% of patients aged between 10 and 18 years. The onset of clinical manifestations, the majority started between 2 and 6 years (34%), followed the group, 29 days - 2 years (27%), of which 12% had neonatal onset. Regarding the inheritance pattern, 74% were autosomal recessive, followed by autosomal dominant (14%), X-linked recessive (6%) and mitochondrial (4%). The most prevalent diagnoses were: Neuronal Ceroid Lipofuscinosis (19%); Niemann-Pick disease type C (17%); combined oxidative phosphorylation deficiency 20 (4%), GLUT-1 deficiency (4%) and Sialidosis (4%). Other genetics diseases were identified at lower prevalences. Other clinical manifestations associated with ataxia, the following were observed: epilepsy (48%), neurodevelopmental delay (47%), neurodevelopmental regression (23%), pyramidal signs (23%). neuroimaging was normal in 29% of the 38 patients who underwent skull resonance imaging.For diagnosis, 21% underwent genome, 38% exome, 27% PCR, 6% gene panel for epilepsy, 2% SNP array and 2% muscle biopsy.

Conclusão

Conclusion: The etiology of genetic ataxias is varied, most of them autosomal recessive, and early onset, in agreement with the literature. In most cases, the disease is neurodegenerative and early diagnosis is essential, as some conditions can be treated. It is worth pointing out that the choice of genetic diagnostic test should be guided by the clinical picture, inheritance pattern and neuroimaging alterations, since the exome is not conclusive in all genetic ataxias.

Referências

Coarelli G, Wirth T, Tranchant C, Koenig M, Durr A, Anheim M. The inherited cerebellar ataxias: an update. J Neurol. 2023 Jan;270(1):208-222. doi: 10.1007/s00415-022-11383-6. Epub 2022 Sep 24.
Subramony SH, Burns M, Kugelmann EL, Zingariello CD. Inherited Ataxias in Children. Pediatr Neurol. 2022 Jun;131:54-62.

Palavras Chave

Genetic; ataxias; childhood;