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Griscelli syndrome

Ariffin H 1 , Geikowski A 2 , Chin TF 3 , Chau D 3 , Arshad A 2 , Abu Bakar K 2 Show all authors , Krishnan S 2

Affiliations 

  • 1 University of Malaya, Department of Paediatrics, Kuala Lumpur, Malaysia. hany@um.edu.my
  • 2 University of Malaya, Department of Paediatrics, Kuala Lumpur, Malaysia
  • 3 University of Malaya Cancer Research Institute, Kuala Lumpur, Malaysia
Med J Malaysia, 2014 Aug;69(4):193-4.
PMID: 25500851 MyJurnal

Abstract

We report a case of Griscelli Syndrome (GS). Our patient initially presented with a diagnosis of haemophagocytic lymphistiocytosis (HLH). Subsequent microscopic analysis of the patient's hair follicle revealed abnormal distribution of melanosomes in the shaft, which is a hallmark for GS. Analysis of RAB27A gene in this patient revealed a homozygous mutation in exon 6, c.550C>T, p.R184X . This nonsense mutation causes premature truncation of the protein resulting in a dysfunctional RAB27A. Recognition of GS allows appropriate institution of therapy namely chemotherapy for HLH and curative haemotopoeitic stem cell transplantation.

* Title and MeSH Headings from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.

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