Unusual presentation of Lafora's disease

J Child Neurol. 2003 Jul;18(7):499-501. doi: 10.1177/08830738030180070901.

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.

Publication types

  • Case Reports

MeSH terms

  • 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