Lafora disease: Diagnosis by skin biopsy

Lafora disease is a fatal neurometabolic disorder characterized by progress ive myoclonic epilepsy. Diagnosis relies upon the discovery of specific inc lusion bodies in any of several organs. Dermatologists and dermatopathologi sts should be familiar with this condition because axillary skin biopsy is useful to diagnose this disorder. We present a case of Lafora disease diagn osed by axillary skin biopsy and review the condition's clinical, histologi c, and ultrastructural features.