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Peripheral neuropathy in classic Niemann-Pick disease

Ultrastructure of nerves and skeletal muscles

Departments of Pediatrics, Neurology, and Pathology, Northwestern University Medical School and The Children's Memorial Hospital, Chicago.

A patient with classic (type A) Niemann-Pick disease had the usual clinical signs of failure to thrive, hepatosplenomegaly, and intellectual deterioration in the first year of life. In addition, there was striking hypotonia, areflexia, and abnormal nerve conduction velocities. Pathologically, the Schwann cells were filled with numerous cytoplasmic bodies. These bodies measured 1 µ in diameter and appeared to be dense, round masses with poorly defined internal structure but with occasional slightly curved parallel lines and small radiolucent areas. Peripheral nerve involvement may be a frequent finding in patients with classic Niemann-Pick disease.

Supported by NIH grant 05475 and by a grant from the Otho S.A. Sprague Institute.

Received for publication August 7, 1974.

Dr. Gumbinas' address is Division of Neurology, The Children's Memorial Hospital, 2300 Children's Plaza, Chicago, IL 60614.