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dc.contributor.authorArslansoyu Çamlar, Seçil
dc.contributor.authorGençpınar, Pınar
dc.contributor.authorMakay, Balahan
dc.contributor.authorYüzbaşıoğlu, Ayşe
dc.contributor.authorArslan, Nur
dc.contributor.authorEmre Dökmeci, Serap
dc.contributor.authorAnal, Özden
dc.contributor.authorKöse, Galip
dc.date.accessioned2019-12-16T07:57:43Z
dc.date.available2019-12-16T07:57:43Z
dc.date.issued2013
dc.identifier.issn1300-7777
dc.identifier.urihttps://doi.org/10.4274/tjh.93798
dc.identifier.urihttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3781670/
dc.identifier.urihttp://hdl.handle.net/11655/19443
dc.description.abstractChanarin-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., Conflict of interest:None declared.
dc.relation.isversionof10.4274/tjh.93798
dc.rightsinfo:eu-repo/semantics/openAccess
dc.titleChanarin-Dorfman Syndrome With Multi-System Involvement In Two Siblings
dc.typeinfo:eu-repo/semantics/article
dc.typeinfo:eu-repo/semantics/publishedVersion
dc.relation.journalTurkish Journal of Hematology
dc.contributor.departmentBiyoloji
dc.identifier.volume30
dc.identifier.issue1
dc.identifier.startpage72
dc.identifier.endpage75
dc.description.indexPubMed
dc.description.indexWoS
dc.description.indexScopus


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