*Department of Paediatrics, University of Malaya, Kuala Lumpur, Malaysia, **University of Malaya Cancer Research Institute, Kuala Lumpur, Malaysia, ***Beuth University of Applied Science, Berlin, Germany

Department of Paediatrics, University of Malaya, Kuala Lumpur, Malaysia, University of Malaya Cancer Research Institute, Kuala Lumpur, Malaysia, Beuth University of Applied Science, Berlin, Germany

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作者：

H Ariffin，FRCPCH，A Geikowski，FC Tong，BD Chau，P Adleen，ARSHAD，MKA Bakar，MS Krishnan

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摘要：

SUMMARYWe 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.

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