Lafora's disease. Comparison of inclusion bodies in skin and in brain

A patient had the clinical and neuropathologic signs of Lafora's disease. Skin biopsy specimens from the midcalf area confirmed earlier findings by showing numerous periodic acid-Schiff-positive inclusion bodies in eccrine sweat gland duct cells. In our patient, however, inclusion bodies were more abundantly present in the apocrine sweat gland duct cells of the axilla skin. In brain biopsy specimens and autopsy material the same periodic acid-Schiff-positive inclusion bodies were found. From these data it can be stated that skin biopsy of the axilla is the method of first choice in confirming the diagnosis.