A child with Friedreich's ataxia and epilepsy.
作者： Meredith R. Golomb , Anna Illner , Celanie K. Christensen , Laurence E. Walsh
DOI: 10.1177/08830738050200031201
关键词: Pediatrics 、 Audiology 、 Early onset 、 Heterotopia (medicine) 、 Epilepsy 、 Generalized epilepsy 、 Triplet repeat 、 Subependymal zone 、 Ataxia 、 Psychology 、 Magnetic resonance imaging
摘要: Epilepsy in Friedreich's ataxia is rare. We describe a 9-year-old boy with who had onset of symptoms the second year life and developed generalized epilepsy at age 5 years. On cerebral magnetic resonance imaging, he has subependymal gray-matter heterotopia. suggest that his heterotopia might be related to diagnosis early length guanine-adenine-adenine (GAA) triplet repeat expansion.
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