✦ LIBER ✦

The diverse neurological features of Niemann-Pick disease type C: A report of two cases

✍ Scribed by R. J. Coleman; S. A. Robb; B. D. Lake; E. M. Brett; Dr. A. E. Harding

Publisher: John Wiley and Sons
Year: 1988
Tongue: English
Weight: 328 KB
Volume: 3
Category: Article
ISSN: 0885-3185
DOI: 10.1002/mds.870030403

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✦ Synopsis

Two cases of Niemann-Pick disease type C are described in order to illustrate the variable neurological features of this rare condition. One presented with a predominantly akinetic-rigid syndrome at the age of 5 years. The second developed progressive ataxia, accompanied by a vertical gaze palsy, when she was 13. Neither patient had hepatosplenomegaly; the diagnosis of Niemann-Pick disease type C was based on finding foamy storage cells in bone marrow aspirates.

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