✦ LIBER ✦

Clinical variation in 2 related children with neuronopathic Gaucher disease

✍ Scribed by Dr. Warren D. Grover; Samuel H. Tucker; David A. Wenger

Book ID: 101463824
Publisher: John Wiley and Sons
Year: 1978
Tongue: English
Weight: 257 KB
Volume: 3
Category: Article
ISSN: 0364-5134
DOI: 10.1002/ana.410030316

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

The clinical features in 2 second cousins with neuronopathic Gaucher disease include slowly progressive ataxia, spasticity, myoclonus, and seizures with relative preservation of intellectual function. Organomegaly was noted only in Patient 1. Both patients had diffuse slowing with paroxysmal features in electroencephalograms and a deficiency of β‐glucosidase activity in leukocytes and skin fibroblast cultures. The parents of Patient 1 and the related father of Patient 2 had levels of β‐glucosidase activity consistent with the carrier state for Gaucher disease. The value of β‐glucosidase activity in the mother of Patient 2 suggests a different mutation, the result being a defective enzyme component not detectable by measuring total activity.

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