Premium
Neutral lipid storage disease. Case report and lipid studies
Author(s) -
JUDGE M.R.,
ATHERTON D.J.,
SALVAYRE R.,
HILAIRE N.,
LEVADE T.,
JOHNSTON D.I.,
WINCHESTER B.,
LAKE B.D.
Publication year - 1994
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1111/j.1365-2133.1994.tb03387.x
Subject(s) - cataracts , medicine , erythroderma , lipid metabolism , basal (medicine) , myopathy , pathology , dermatology , endocrinology , diabetes mellitus , ophthalmology
Summary 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, biochemical evidence of myopathy, early cataracts, and lipid vacuoles in white blood cells and basal keratinocytes. A diagnosis of neutral lipid (triglyceride) storage disease was confirmed by lipid studies on cultured fibroblasts.