Epilepsia Generalizada em Doente com Doença de Charcot-Marie-Tooth Ligada ao X por Mutação do Gene GBJ1
DOI:
https://doi.org/10.46531/sinapse/CC/220038/2022Palavras-chave:
Doença de Charcot-Marie-Tooth/complicações, Doença de Charcot-Marie-Tooth/genética, Epilepsia/genética, Mutação/genéticaResumo
A doença de Charcot-Marie-Tooth (CMT) é uma neuropatia hereditária reconhecida por sua heterogeneidade genética e fenotípica. Embora incomum, também há relatos do envolvimento do sistema nervoso central (SNC), incluindo epilepsia. Homem de 23 anos que aos 8 anos se apresenta com alterações da marcha. Ao exame neurológico apresentava fraqueza muscular distal, atrofia dos quatro membros e hiporreflexia generalizada. O eletromiograma e estudo de condução nervosa revelaram sinais de polineuropatia sensitivo-motora axonal simétrica crónica. O estudo genético identificou uma variante hemizigótica no gene GJB1 (c.547C>T, p.R183C) consistente com CMT ligada ao X. Aos 21 anos, desenvolveu crises tónico-clónicas recorrentes, não provocadas. O eletroencefalograma foi compatível com epilepsia generalizada. A associação da doença CMT com epilepsia é rara. O gene GJB1 codifica a proteína conexina32, que é expressa principalmente nas células de Schwann dos nervos periféricos, mas também nos oligodendrócitos e determinadas populações neuronais, possivelmente explicando as manifestações do SNC.Downloads
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Direitos de Autor (c) 2024 Isabel Monteiro, Joana Jesus-Ribeiro, Joana B. Melo, Francisco Sales, Argemiro Geraldo
Este trabalho encontra-se publicado com a Creative Commons Atribuição-NãoComercial 4.0.
