NEUTRAL LIPID STORAGE DISEASE - CASE-REPORT AND LIPID STUDIES

Authors
JUDGE MR ATHERTON DJ SALVAYRE R HILAIRE N LEVADE T JOHNSTON DI WINCHESTER B LAKE BD
Citation
Mr. Judge et al., NEUTRAL LIPID STORAGE DISEASE - CASE-REPORT AND LIPID STUDIES, British journal of dermatology, 130(4), 1994, pp. 507-510
Citations number
14
Categorie Soggetti
Dermatology & Venereal Diseases
Journal title
British journal of dermatology → ACNP
ISSN journal
00070963
Volume
130
Issue
4
Year of publication
1994
Pages
507 - 510
Database
ISI
SICI code
0007-0963(1994)130:4<507:NLSD-C>2.0.ZU;2-K
Abstract
A 9-year-old boy of Greek-Cypriot origin had been diagnosed at the age of 3 years as suffering from non-bullous ichthyosiform erythroderma. However, he also had hepatomegaly and abnormal liver function tests, b iochemical evidence of myopathy, early cataracts, and lipid vacuoles i n white blood cells and basal keratinocytes. A diagnosis of neutral li pid (triglyceride) storage disease was confirmed by lipid studies on c ultured fibroblasts.