title: Unusual presentation of Lafora's disease.
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.
authors.affiliation: Department of Paediatrics, Hospital for Sick Children, Toronto, Ontario.
authors.forename: Suad F
authors.initials: SF
authors.lastname: Al Otaibi
authors.forename: Berge A
authors.initials: BA
authors.lastname: Minassian
authors.forename: Cameron A
authors.initials: CA
authors.lastname: Ackerley
authors.forename: William J
authors.initials: WJ
authors.lastname: Logan
authors.forename: Shelly
authors.initials: S
authors.lastname: Weiss
mesh_terms: 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