title: Neutral lipid storage disease. Case report and lipid studies.
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, 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.
authors.affiliation: Hospital for Sick Children, London, U.K.
authors.forename: M R
authors.initials: MR
authors.lastname: Judge
authors.forename: D J
authors.initials: DJ
authors.lastname: Atherton
authors.forename: R
authors.initials: R
authors.lastname: Salvayre
authors.forename: N
authors.initials: N
authors.lastname: Hilaire
authors.forename: T
authors.initials: T
authors.lastname: Levade
authors.forename: D I
authors.initials: DI
authors.lastname: Johnston
authors.forename: B
authors.initials: B
authors.lastname: Winchester
authors.forename: B D
authors.initials: BD
authors.lastname: Lake
mesh_terms: 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
chemical_list: D008055:Lipids