Vol. 5(11), pp. 467-470, November 2013 DOI: 10.5897/IJMMS2013.0927 ISSN 2006-9723 ©2013 Academic Journals http://www.academicjournals.org/IJMMS International Journal of Medicine and Medical Sciences Case Report A novel RAB-27A mutation causing Griscelli syndrome type 2 with severe central nervous system involvement: Case report and review of literature Ali M. Alsuheel 1 *, Ayed A. Shati 1 , Amer A. Alshehri 2 and Mansour Y. Otaif 2 1 Department of Child Health, College of Medicine, King Khalid University, Abha, Kingdom of Saudi Arabia. 2 Pediatric Department, Aseer Central Hospital, Abha, Kingdom of Saudi Arabia. Accepted 8 October, 2013 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. Key words: Griscelli syndrome type 2, RAB27A, CNS involvement. INTRODUCTION Griscelli syndrome is one of the rare autosomal recessive disease characterized by hypopigmentation of the hair, hepatosplenomegally, primary immunodeficiency and neurological manifestations. It was described by Claude Griscelli and Michel Prunierasin 1978 in France, who reported two girls who were presented with silver gray hair, several episodes of fever, hepatosplenomegally and pancytopenia (Griscelli et al., 1978; Tomita and Suzuki, 2004; Rezaei et al., 2009). There are three types of this syndrome published so far, Griscelli syndrome type 1 (OMIM #214450) which is characterized by neurological manifestations and MYO5A gene mutation. Griscelli syndrome type 2 represents patients with silvery gray hair, immunologic abnormalities and variable neurologic defects which are related to RAB27A gene. Finally, Griscelli syndrome type 3 presents as hypopigmentation in the hair and skin without another findings which are related to a mutation in the 2q37.3 chromosome (Tomita and Suzuki, 2004; Rezaei et al., 2009; Klein et al., 1994; Ménasché et al., 2000). We report a 5 month old girl with seizure, silvery grey hair and hepatosplenomegally which fulfill features of Griscelli syndrome type 2 and confirmed by gene study with a novel gene mutation. CASE REPORT A 5-month-old Saudi female infant, the first child of consanguineous parents (first cousins). The patient’s past medical history was uneventful until the age of 5 months, when she was referred to Aseer Central *Corresponding author E-mail: alsoheel11@hotmail.com.