Unusual presentation of Lafora's disease.
作者信息
Al Otaibi Suad F, Minassian Berge A, Ackerley Cameron A, Logan William J, Weiss Shelly
机构信息
Department of Paediatrics, Hospital for Sick Children, Toronto, Ontario.
出版信息
J Child Neurol. 2003 Jul;18(7):499-501. doi: 10.1177/08830738030180070901.
PMID:12940657
Abstract
Lafora's disease is a progressive myoclonus epilepsy with onset in adolescence and a gradual decline in cognitive functions and increase in seizure intractability. We present the case of a 16-year-old with precipitous dementia within 6 months of onset. Peripheral biopsies and EPM2A mutation analysis were negative. The diagnosis could be established only by brain biopsy.
摘要
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