title: Chanarin-dorfman syndrome with multi-system involvement in two siblings.
abstract: Chanarin-Dorfman syndrome (CDS) is a very rare autosomal recessive inherited neutral lipid metabolism disorder associated with congenital ichthyosis and multi-system involvement. Observation of lipid vacuoles in neutrophils (Jordan's anomaly) in peripheral blood smears in patients with ichthyosiform erythroderma is diagnostic. Herein we present 2 siblings with CDS that were referred to Dokuz Eylul University School of Medicine Department of Pediatrics due to ichthyosis. They had hepatomegaly, cataract, growth retardation, and sensorineural hearing loss. Some lipid vacuoles in neutrophils were noted in peripheral blood smear evaluation. Genetic analysis showed homozygous N209X mutation in both patients. They were put on a low-fat high-carbohydrate diet supplemented with medium-chain fatty acids. During 6 months of follow-up, no improvement was observed in both patients. In conclusion, although CDS is a rare lipid storage disease, it should always be a consideration in patients with congenital ichthyosis, especially those with extracutaneous symptoms or signs. The diagnosis of CDS is made based on a very simple test-peripheral blood smear.
  
  
  BACKGROUND
  None declared.
authors.affiliation: Dokuz Eylul University School of Medicine, Department of Pediatrics, İzmir, Turkey.
authors.forename: Seçil
authors.initials: S
authors.lastname: Arslansoyu Çamlar
authors.affiliation: Dokuz Eylul University School of Medicine, Department of Pediatrics, İzmir, Turkey.
authors.forename: Pınar
authors.initials: P
authors.lastname: Gençpınar
authors.affiliation: Dokuz Eylul University School of Medicine, Department of Pediatrics, İzmir, Turkey.
authors.forename: Balahan
authors.initials: B
authors.lastname: Makay
authors.affiliation: Hacettepe University School of Medicine, Department of Medical Biology, Ankara, Turkey.
authors.forename: Ayşe
authors.initials: A
authors.lastname: Yüzbaşıoğlu
authors.affiliation: Dokuz Eylul University School of Medicine, Department of Pediatrics, İzmir, Turkey.
authors.forename: Nur
authors.initials: N
authors.lastname: Arslan
authors.affiliation: Hacettepe University School of Medicine, Department of Medical Biology, Ankara, Turkey.
authors.forename: Serap
authors.initials: S
authors.lastname: Emre Dökmeci
authors.affiliation: Dokuz Eylul University School of Medicine, Department of Pediatrics, İzmir, Turkey.
authors.forename: Ozden
authors.initials: O
authors.lastname: Anal
authors.affiliation: Dokuz Eylul University School of Medicine, Department of Pediatrics, İzmir, Turkey.
authors.forename: Galip
authors.initials: G
authors.lastname: Köse
keywords: Chanarin-Dorfman syndrome; Ichthyosis; child