Peripheral neuropathy in classic Niemann-Pick disease: ultrastructure of nerves and skeletal muscles.

Abstract:

: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 mu 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.

journal_name

Neurology

journal_title

Neurology

authors

Gumbinas M,Larsen M,Mei Liu H

doi

10.1212/wnl.25.2.107

subject

Has Abstract

pub_date

1975-02-01 00:00:00

pages

107-13

issue

2

eissn

0028-3878

issn

1526-632X

journal_volume

25

pub_type

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