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Unusual Presentation of Lafora's Disease

Division of Neurology, Department of Paediatrics, Toronto, Ontario

Berge A. Minassian, MD

Division of Neurology, Department of Paediatrics, Toronto, Ontario, bminass{at}sick-kids.ca

Cameron A. Ackerley, MD

Department of Pathology, Toronto, Ontario

William J. Logan, MD

Division of Neurology, Department of Paediatrics Hospital for Sick Children Toronto, Ontario, Toronto, Ontario

Shelly Weiss, MD

Division of Neurology, Department of Paediatrics Hospital for Sick Children Toronto, Ontario,

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. (J Child Neurol 2003;18:499—501).

Journal of Child Neurology, Vol. 18, No. 7, 499-501 (2003)
DOI: 10.1177/08830738030180070901


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