An Electron Microscopic Examination of Skin Biopsy Specimen in the Diagnosis of Tay-Sachs Disease

Abstract

An electron microscopic investigation was performed on the skin biopsy specimen from a 20 months old girl with Tay-Sachs disease. Abnormal cytosomes such as homogenous electron dense bodies and zebra bodies were observed in neuronal axons and Schwann cells. The obtained results suggest that ultrastructural examination of skin biopsy specimens may be useful in evaluating patients with Tay-Sachs disease.