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 ana...

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Veröffentlicht in:	Journal of child neurology 2003-07, Vol.18 (7), p.499-501
Hauptverfasser:	Al Otaibi, Suad F., Minassian, Berge A., Ackerley, Cameron A., Logan, William J., Weiss, Shelly
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Biopsy Brain - pathology Cognition Disorders - etiology Cognition Disorders - physiopathology Dementia - etiology Dementia - physiopathology Disease Progression Female Humans Lafora Disease - complications Lafora Disease - diagnosis Lafora Disease - psychology
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Beschreibung
Zusammenfassung:	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).
ISSN:	0883-0738 1708-8283
DOI:	10.1177/08830738030180070901