Neutral lipid storage disease. Case report and lipid studies.
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.
Judge
M R
MR
Hospital for Sick Children, London, U.K.
Atherton
D J
DJ
Salvayre
R
R
Hilaire
N
N
Levade
T
T
Johnston
D I
DI
Winchester
B
B
Lake
B D
BD
D002648:Child; D003937:Diagnosis, Differential; D006801:Humans; D017490:Ichthyosis, Lamellar / Q000175:diagnosis; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000378:metabolism / Q000473:pathology; D008055:Lipids / Q000032:analysis*; D008297:Male; D012867:Skin / Q000473:pathology
D008055:Lipids