Chanarin Dorfman Syndrome: A Case Report with Novel Nonsense Mutation.

 

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Chanarin Dorfman Syndrome: A Case Report with Novel Nonsense Mutation.

Gene. 2015 Sep 6;

Authors: Gupta N, Gothwal S, Satpathy AK, Missaglia S, Tavian D, Das P, Timila D, Kabra M

Abstract
Chanarin Dorfman Syndrome (CDS) is a very rare neutral lipid metabolism disorder with multisystem involvement. It is inherited as an autosomal recessive manner. It is characterized with congenital ichthyosiform erythroderma and involvement of liver, muscle, and central nervous system. Demonstration of lipid vacuoles in neutrophils from peripheral blood smears in patients with ichthyosiform erythroderma leads to the diagnosis. We report a novel ABHD5 truncating variant in a twenty nine month old female child, who presented with icthyosiform erythroderma.

PMID: 26353074 [PubMed – as supplied by publisher]

http://www.ncbi.nlm.nih.gov/pubmed/26353074?dopt=Abstract

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