Griscelli syndrome.
| Autor: | Ariffin H; University of Malaya, Department of Paediatrics, Kuala Lumpur, Malaysia. hany@um.edu.my., Geikowski A; University of Malaya, Department of Paediatrics, Kuala Lumpur, Malaysia., Chin TF; University of Malaya Cancer Research Institute, Kuala Lumpur, Malaysia., Chau D; University of Malaya Cancer Research Institute, Kuala Lumpur, Malaysia., Arshad A; University of Malaya, Department of Paediatrics, Kuala Lumpur, Malaysia., Abu Bakar K; University of Malaya, Department of Paediatrics, Kuala Lumpur, Malaysia., Krishnan S; University of Malaya, Department of Paediatrics, Kuala Lumpur, Malaysia. |
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| Jazyk: | angličtina |
| Zdroj: | The Medical journal of Malaysia [Med J Malaysia] 2014 Aug; Vol. 69 (4), pp. 193-4. |
| Abstrakt: | 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. |
| Databáze: | MEDLINE |
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