title: Griscelli syndrome.
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.
authors.affiliation: University of Malaya, Department of Paediatrics, Kuala Lumpur, Malaysia. hany@um.edu.my.
authors.forename: H
authors.initials: H
authors.lastname: Ariffin
authors.affiliation: University of Malaya, Department of Paediatrics, Kuala Lumpur, Malaysia.
authors.forename: A
authors.initials: A
authors.lastname: Geikowski
authors.affiliation: University of Malaya Cancer Research Institute, Kuala Lumpur, Malaysia.
authors.forename: T F
authors.initials: TF
authors.lastname: Chin
authors.affiliation: University of Malaya Cancer Research Institute, Kuala Lumpur, Malaysia.
authors.forename: D
authors.initials: D
authors.lastname: Chau
authors.affiliation: University of Malaya, Department of Paediatrics, Kuala Lumpur, Malaysia.
authors.forename: A
authors.initials: A
authors.lastname: Arshad
authors.affiliation: University of Malaya, Department of Paediatrics, Kuala Lumpur, Malaysia.
authors.forename: K
authors.initials: K
authors.lastname: Abu Bakar
authors.affiliation: University of Malaya, Department of Paediatrics, Kuala Lumpur, Malaysia.
authors.forename: S
authors.initials: S
authors.lastname: Krishnan