title: Chanarin-Dorfman syndrome: clinical features of a rare lipid metabolism disorder.
abstract: Chanarin-Dorfman syndrome (CDS) is a very rare neutral lipid metabolism disorder with multisystem involvement. In order to not underdiagnose the cases, screening of lipid vacuoles in neutrophils from peripheral blood smears in patients with ichthyosiform erythroderma is needed. Few case reports revealing ultrastructural findings of skin and especially liver in that disorder were observed. Here we discuss clinical and electron microscopic findings of two siblings with CDS.
authors.affiliation: Division of Pediatric Gastroenterology, Inonu University, Malatya, Turkey. ayseselimoglu@hotmail.com
authors.forename: Mukadder Ayse
authors.initials: MA
authors.lastname: Selimoglu
authors.forename: Mukaddes
authors.initials: M
authors.lastname: Esrefoglu
authors.forename: Mehmet
authors.initials: M
authors.lastname: Gul
authors.forename: Serdal
authors.initials: S
authors.lastname: Gungor
authors.forename: Cigdem
authors.initials: C
authors.lastname: Yildirim
authors.forename: Muammer
authors.initials: M
authors.lastname: Seyhan
mesh_terms: D002648:Child; D005260:Female; D006801:Humans; D016113:Ichthyosiform Erythroderma, Congenital / Q000473:pathology*; D015603:Keratinocytes / Q000473:pathology / Q000648:ultrastructure; D008052:Lipid Metabolism, Inborn Errors / Q000473:pathology*; D008854:Microscopy, Electron; D009504:Neutrophils / Q000473:pathology; D012867:Skin / Q000473:pathology*