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Lafora disease: diagnosis by skin biopsy
D Karimipour1, L Lowe, M Blaivas
1Department of Dermatology, University of Michigan Medical Center and University of Michigan Comprehensive Cancer Center, Ann Arbor 48109-0314, USA.
Journal of the American Academy of Dermatology
|October 27, 1999
Abstract:
Lafora disease is a fatal neurometabolic disorder characterized by progressive myoclonic epilepsy. Diagnosis relies upon the discovery of specific inclusion bodies in any of several organs. Dermatologists and dermatopathologists should be familiar with this condition because axillary skin biopsy is useful to diagnose this disorder. We present a case of Lafora disease diagnosed by axillary skin biopsy and review the condition's clinical, histologic, and ultrastructural features.