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Journal of Child Neurology
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A Child With Friedreich's Ataxia and Epilepsy

Meredith R. Golomb, MD, MSc

Department of Neurology Division of Pediatric Neurology, mgolomb{at}iupui.edu

Anna Illner, MD

Department of Radiology Division of Pediatric Neuroradiology

Celanie K. Christensen, MSc

Department of Medical and Molecular Genetics Riley Hospital for Children

Laurence E. Walsh, MD

Department of Neurology Division of Pediatric Neurology Department of Medical and Molecular Genetics Indiana University School of Medicine Indianapolis, Indiana

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. ( J Child Neurol 2005;20:248—250).

Journal of Child Neurology, Vol. 20, No. 3, 248-250 (2005)
DOI: 10.1177/08830738050200031201


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