alexa Griscelli Syndrome Type 3: A Case Report from Kingdom o
ISSN: 2165-7920

Journal of Clinical Case Reports
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Case Report

Griscelli Syndrome Type 3: A Case Report from Kingdom of Saudi Arabia

Noufa Alonazi*, Aisha Alanazi, Rozeena Huma, Abdulrahman Alnemri and Abbas Hawwari
Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia
*Corresponding Author : Noufa Alonazi
Department of Pediatrics
Prince Sultan Military Medical City
Riyadh, Saudi Arabia
Tel: +966 11 477 7714
E-mail: [email protected]
Received: January 15, 2015 Accepted: March 25, 2016 Published: March 30, 2016
Citation: Alonazi N, Alanazi A, Huma R, Alnemri A, Hawwari A (2016) Griscelli Syndrome Type 3: A Case Report from Kingdom of Saudi Arabia. J Clin Case Rep 6:750. doi:10.4172/2165-7920.1000750
Copyright: © 2016 Alonazi N, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
 

Abstract

Griscelli syndrome (GS) is a rare autosomal recessive disorder characterized by partial albinism. GSis a rare condition; its prevalence is unknown. Type 2 appears to be the most common of the three known types. The three different types of GS are caused by mutations in three different genes. Patients with GS type 1 have primary central nervous system dysfunction, resulting from mutations in the MYO5A gene. Type 2 patients commonly develop hemophagocytic. Lymphohistiocytosis, caused by mutations in the RAB27A gene, and type 3 have only partial albinism resulting from mutations in the MLPH. While hematopoietic stem cell transplantation is lifesaving in type 2, no specific therapy is required for types 1 and 3. Patients with GS types 1 and 3 are very rare. To date, 12 patients with similar presentation of GS-3 as our case have been reported. About 20 GS type 1 patients, including the patients described as Elejalde syndrome, have been reported. We report a 11 years old child with type 3 GS, referred to our clinic for partial albinism, healthy otherwise, having only pigmentary dilution; silvery gray hair, eye brows, and eyelashes. Though GS type1 and 2 have been reported in the literature; however reports on GS type 3 from Saudi Arabia are very scanty. In communities with high incidence of consanguinity possibility of GS should be kept in mind.

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