ABSTRACT
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.
Subject(s)
Brain/pathology , Epilepsies, Myoclonic/pathology , Skin/pathology , Adolescent , Female , Humans , Inclusion Bodies/pathologyABSTRACT
A nonparoxysmal nonprogressive autosomal dominant choreatic disorder of early onset is described in two families. Laboratory investigations of blood, urine and cerebrospinal fluid were normal. Extensive electroneurophysiological examinations did not reveal evident abnormalities. The contingent negative variation was also normal, except for a P500. These electroneurophysiological data are the opposite of what can be found in cases of Huntington's chorea.
