title: From blood smear to lipid disorder: a case report.
abstract: Neutral lipid storage disease (Chanarin-Dorfman syndrome) is a rare autosomal recessive disorder of lipid metabolism, characterized by systemic accumulation of neutral lipids in multiple tissues. We report a case of a 14-year-old girl with generalized ichthyosis, liver cirrhosis, and a hearing impairment. A peripheral blood smear demonstrated marked cytoplasmatic vacuoles in most polymorphonuclear cells (Jordan's anomaly). Bone marrow examination revealed vacuoles in myeloid precursors. Genetic analysis showed that the patient was homozygous for the p.Arg312Ter mutation in the CGI-58 gene, a key enzyme in lipid metabolism. The peripheral blood smear is diagnostic, and should be performed in any patient with ichthyosis.
authors.affiliation: *Department of Pediatric Hematology-Oncology ‡Institute of Gastroenterology, Nutrition, and Liver Disease, Schneider Children's Medical Center, Petah Tikva, Israel. Israel †Pediatric Hematology Laboratory, Felsenstein Medical Research Center, Beilinson Campus, Petah Tikva, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
authors.forename: Sarah
authors.initials: S
authors.lastname: Elitzur
authors.forename: Joanne
authors.initials: J
authors.lastname: Yacobovich
authors.forename: Orly
authors.initials: O
authors.lastname: Dgany
authors.forename: Tatyana
authors.initials: T
authors.lastname: Krasnov
authors.forename: Yoram
authors.initials: Y
authors.lastname: Rosenbach
authors.forename: Hannah
authors.initials: H
authors.lastname: Tamary
mesh_terms: D051103:1-Acylglycerol-3-Phosphate O-Acyltransferase / Q000235:genetics; D000293:Adolescent; D005260:Female; D034381:Hearing Loss / Q000235:genetics; D006403:Hematologic Tests; D006801:Humans; D016113:Ichthyosiform Erythroderma, Congenital / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D007057:Ichthyosis / Q000235:genetics; D008052:Lipid Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D008103:Liver Cirrhosis / Q000235:genetics; D009135:Muscular Diseases / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D009154:Mutation
chemical_list: D051103:1-Acylglycerol-3-Phosphate O-Acyltransferase; C439972:ABHD5 protein, human