Dados do Trabalho

Título

NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES: A RARE GENETIC CASE

Apresentação do caso

Patient RSP, female, born full-term and without complications during pregnancy or perinatally. She presented her first episode of tonic-clonic episode at 5 months of age, evolving with recurrent seizures of variable frequency and intensity, neuropsychomotor development (NPMD), tremors in the upper limbs and precocious puberty. Brain MRI presented diffuse leukoencephalopathy associated with volumetric reduction. Electroencephalogram (EEG) presented with multifocal epileptic activity and disorganized baseline rhythm. Genetic Panel of Epilepsies collected in 2021 showed pathogenic variant in heterozygosity in the GRIN1 gene, associated with Neurodevelopmental Disorder with or without Hyperkinetic Movements and Seizures (NDHMSD, OMIM: # 614254).

Discussão

NDHMSD is an autosomal dominant disorder caused by heterozygous mutation in the GRIN1 gene on chromosome 9q34. It presents significant delay in neurodevelopment, severe intellectual deficit with absence of speech, muscular hypotonia and hyperkinetic hyperkinetic movement changes, and may be associated with cortical blindness, brain atrophy, and seizures.
This is a rare etiology of seizures associated with delayed NPMD, with only 72 cases reported as of 2019, and with pleomorphic presentation, ranging from milder cases with delayed in development associated with autistic spectrum disorder to complex ones with altered cortical visual, epilepsy, hyperkinetic disorders.

Comentários finais

Developmental delays and intellectual disabilities are part of a large spectrum that encompasses numerous pathologies and etiologies, with little appreciation often given to genetic etiologies and their causal investigation with genetic panels. Such undervaluation implies delays in genetic diagnosis and counseling, with potentially significant consequences for the psychosocial context of the families involved, being a good multidisciplinary follow-up in these scenarios fundamental.

Referências (se houver)

Fonte de Fomento (se houver)

Declaração de conflito de interesses de TODOS os autores

Não

Área

Neurogenética