Chanarin Dorfman Syndrome: A Case Report with Novel Nonsense Mutation

Sara Missaglia, Daniela Tavian, Neerja Gupta, Sunil Gothwal, Amit Kumar Satpathy, Prasenjit Das, Dipsal Timila, Madhulika Kabra

Research output: Contribution to journalArticlepeer-review

8 Citations (Scopus)

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.
Original languageEnglish
Pages (from-to)359-362
Number of pages4
JournalGene
Volume2016
DOIs
Publication statusPublished - 2016

Keywords

  • Chanarin Dorfman Syndrome
  • Ichthyosis
  • lipid storage disorder
  • liver involvement

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