Unusual presentation of Lafora's disease.

Full 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.

Author information

Author/s: Al Otaibi, Suad F (SF); Minassian, Berge A (BA); Ackerley, Cameron A (CA); Logan, William J (WJ); Weiss, Shelly (S);

Affiliation: Department of Paediatrics, Hospital for Sick Children, Toronto, Ontario.

Journal and publication information

Publication Type: Case Reports; Journal Article

Journal: Journal of child neurology (J Child Neurol), published in United States. (Language: eng)

Reference: 2003-Jul; vol 18 (issue 7) : pp 499-501

Dates: Created 2003/08/27; Completed 2003/09/09; Revised 2004/11/17;

PMID: 12940657, status: MEDLINE (last retrieved date: 2/18/2009)

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