Chanarin-Dorfman syndrome: clinical features of a rare lipid metabolism disorder.
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.
Selimoglu
Mukadder Ayse
MA
Division of Pediatric Gastroenterology, Inonu University, Malatya, Turkey. ayseselimoglu@hotmail.com
Esrefoglu
Mukaddes
M
Gul
Mehmet
M
Gungor
Serdal
S
Yildirim
Cigdem
C
Seyhan
Muammer
M
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*