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Sweat gland duct cells in Lafora disease

Diagnosis by skin biopsy

Department of Neurology-Neurosurgery, McGiil University, and the Montreal Neurological Institute, Montreal, Quebec, Canada.

Address correspondence and reprint requests to Dr. Carpenter, Montreal Neurological Institute, 3801 University Street, Montreal, Quebec H3A 2B4. Canada.

Skin biopsies of three patients with Lafora disease (clinically typical and proven by liver biopsy) showed PAS-positive inclusions in numerous peripheral cells of eccrine sweat ducts. By electronmicroscopy, the inclusions consisted of polyglucosan-type material; they were not bounded by a membrane. Skin biopsy should be a convenient method of diagnosing Lafora disease.

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