Lafora disease: diagnosis by skin biopsy.
case_report · Level V
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- Record sourced from PubMed, PMID 10534649.
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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.
Medical subject headings
- Lafora Disease
- Skin