A child with Friedreich's ataxia and epilepsy.
Epilepsy in Friedreich's ataxia is rare. We describe a 9-year-old boy with Friedreich's ataxia who had onset of symptoms in the second year of life and developed a generalized epilepsy at age 5 years. On cerebral magnetic resonance imaging, he has a subependymal gray-matter heterotopia. We suggest that his gray-matter heterotopia might be related to his diagnosis of Friedreich's ataxia and that his early onset of symptoms might be related to the length of his guanine-adenine-adenine (GAA) triplet repeat expansion.
Golomb
Meredith R
MR
Department of Neurology, Division of Pediatric Neurology, Indiana University School of Medicine, Indianapolis 46202, USA. mgolomb@iupui.edu
Illner
Anna
A
Christensen
Celanie K
CK
Walsh
Laurence E
LE
D002648:Child; D004829:Epilepsy, Generalized / Q000175:diagnosis / Q000209:etiology*; D005621:Friedreich Ataxia / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D008297:Male