Griscelli syndrome

H Ariffin; A Geikowski; T F Chin; D Chau; A Arshad; K Abu Bakar; S Krishnan

Griscelli syndrome

Med J Malaysia. 2014 Aug;69(4):193-4.

Authors

H Ariffin¹, A Geikowski², T F Chin³, D Chau³, A Arshad², K Abu Bakar², S Krishnan²

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.

PMID: 25500851

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.