Lafora's disease. The role of skin biopsy

Lafora's disease is a neurometabolic disease characterized by progressive myoclonus epilepsy. It is thought to be transmitted by autosomal recessive inheritance. The diagnosis of Lafora's disease is based on both clinical symptomatology and histologic detection of intracytoplasmic periodic acid-Schiff-positive inclusions, termed Lafora bodies. Despite the absence of cutaneous clinical findings, typical inclusions are present in eccrine duct cells and peripheral nerve of skin biopsies. By electron microscopy, the inclusions are electron-lucent and contain glycogenlike granules and filamentous material. Skin biopsy is a convenient and the least invasive method of establishing the diagnosis of Lafora's disease.