A novel RAB-27A mutation causing Griscelli syndrome type 2 with severe central nervous system involvement: Case report and review of literature

Abstract

Ali M. Alsuheel1*, Ayed A. Shati1, Amer A. Alshehri2and Mansour Y. Otaif2

Griscelli syndrome (GS) is one of the rare autosomal recessive disease characterized by hypopigmentation of the hair, hepatosplenomegally, primary immunodeficiency and neurological manifestations. It was described by Griscelli et al. (1978) in France, who reported two girls who were presented with silver gray hair, several episodes of fever, hepatosplenomegally and pancytopenia. There are three types of Griscelli syndrome based on clinical features and genetic mutations. We report a five month old girl diagnosed as Griscelli syndrome type 2 (OMIM #607624) presenting with significant central nervous system involvement. The molecular studies of the RAB27A gene were performed. Coding sequence revealed a novel homozygous deletion at (c.138delC). In communities with high incidence of consanguineous marriages, we should keep in mind the rare primary immunodeficiency diseases with autosomal recessive inheritance. Early diagnosis and treatment will help in improvement of the outcome.