Document Detail

From Blood Smear to Lipid Disorder: A Case Report.
MedLine Citation:
PMID:  23042024     Owner:  NLM     Status:  Publisher    
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.
Sarah Elitzur; Joanne Yacobovich; Orly Dgany; Tatyana Krasnov; Yoram Rosenbach; Hannah Tamary
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-10-4
Journal Detail:
Title:  Journal of pediatric hematology/oncology     Volume:  -     ISSN:  1536-3678     ISO Abbreviation:  J. Pediatr. Hematol. Oncol.     Publication Date:  2012 Oct 
Date Detail:
Created Date:  2012-10-8     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9505928     Medline TA:  J Pediatr Hematol Oncol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
*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.
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