title: Chanarin-Dorfman syndrome: A case report and review of the literature.
abstract: Chanarin-Dorfman syndrome, a "neutral lipid storage disease with ichthyosis," is a multisystem inherited metabolic disorder associated with congenital ichthyosis and accumulation of lipid droplets in various types of cells.
  
  
  METHODS
  A 3-year-old male presented to the Pediatric Hepatology Unit, Cairo University Children's Hospital, Cairo, Egypt, with accidentally discovered hepatomegaly. He had generalised ichthyosis with dark skin pigmentation and bilateral ectropion. Abdominal examination revealed generalised abdominal distention with firm nontender hepatomegaly. His liver functions were deranged. Blood film showed many vacuolated neutrophils. Serum triglyceride and creatine kinase levels were elevated. Abdominal ultrasound showed a moderately enlarged liver with a bright echo pattern. Liver biopsy revealed marked diffuse macrovesicular fatty changes. The diagnosis of Chanarin-Dorfman Syndrome was made based on the dermatological, haematological, and liver biopsy findings.
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt. Electronic address: Engyaboelsoud@yahoo.com.
authors.forename: Engy A
authors.initials: EA
authors.lastname: Mogahed
authors.affiliation: Department of Pathology, Faculty of Medicine, Cairo University, Cairo, Egypt.
authors.forename: Ahmed
authors.initials: A
authors.lastname: El-Hennawy
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt.
authors.forename: Rokaya
authors.initials: R
authors.lastname: El-Sayed
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt.
authors.forename: Hanaa
authors.initials: H
authors.lastname: El-Karaksy
mesh_terms: D002675:Child, Preschool; D003402:Creatine Kinase / Q000097:blood; D006529:Hepatomegaly / Q000209:etiology; D006801:Humans; D016113:Ichthyosiform Erythroderma, Congenital / Q000175:diagnosis*; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis*; D008111:Liver Function Tests; D008297:Male; D009135:Muscular Diseases / Q000175:diagnosis*; D009504:Neutrophils / Q000473:pathology; D014280:Triglycerides / Q000097:blood; D014617:Vacuoles
chemical_list: D014280:Triglycerides; D003402:Creatine Kinase
keywords: Chanarin–Dorfman syndrome; Hepatomegaly; Ichthyosis