Unusual presentation of Lafora's disease.
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.
Al Otaibi
Suad F
SF
Department of Paediatrics, Hospital for Sick Children, Toronto, Ontario.
Minassian
Berge A
BA
Ackerley
Cameron A
CA
Logan
William J
WJ
Weiss
Shelly
S
D000293:Adolescent; D001706:Biopsy; D001921:Brain / Q000473:pathology; D003072:Cognition Disorders / Q000209:etiology / Q000503:physiopathology; D003704:Dementia / Q000209:etiology* / Q000503:physiopathology; D018450:Disease Progression; D005260:Female; D006801:Humans; D020192:Lafora Disease / Q000150:complications* / Q000175:diagnosis / Q000523:psychology