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Case Report Open Access
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.
Griscelli syndrome type 3, Gene mutation, Saudi Arabia, Medical Case Reports