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[Progressive myoclonic epilepsy type Lafora].

R Chemaly1, A Checrallah, V Trak-Smayra

  • 1Service de Neurologie, Hôtel-Dieu de France, Beyrouth, Liban.

Le Journal Medical Libanais. the Lebanese Medical Journal
|August 22, 2002
PubMed
Summary

Lafora's disease, a rare epilepsy form, causes seizures and dementia. Diagnosis was confirmed in a 12-year-old girl via skin biopsy revealing characteristic inclusions.

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Area of Science:

  • Neurology
  • Genetics
  • Histopathology

Context:

  • Lafora's disease is a rare, fatal, autosomal recessive neurodegenerative disorder.
  • It is characterized by progressive myoclonic epilepsy, ataxia, dementia, and neuronal loss.
  • Early diagnosis is crucial for management and genetic counseling.

Purpose:

  • To present a case of Lafora's disease in a pediatric patient.
  • To highlight the diagnostic utility of axillary skin biopsy.
  • To emphasize the clinical and EEG findings associated with the disease.

Summary:

  • A 12-year-old girl presented with epilepsy, myoclonic jerks, and cognitive decline.
  • Clinical examination revealed progressive neurological deterioration and abnormal electroencephalogram (EEG) findings.

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  • Axillary skin biopsy demonstrated periodic acid-Schiff (PAS)-positive inclusions within sweat gland cells, confirming Lafora's disease.

    • Impact:

    • This case underscores the importance of considering Lafora's disease in pediatric epilepsy syndromes.
    • Skin biopsy provides a minimally invasive and reliable method for diagnosis.
    • Timely diagnosis facilitates appropriate patient management and family support.