Griscelli syndrome - A case report

Abstract : Griscelli syndrome is a rare autosomal recessive disorder clinically characterized by partial albinism, silvery hair with variable immunological and neurological manifestations. Small and large clumps of melanin in the hair shaft seen under the microscopy are diagnostic of Griscelli syndrome. The commonest complication leading to mortality is lymphohistiocytic proliferation in various organs, including the brain. Three types of this syndrome have been described. We report an 8 years old female child presenting with silvery hair all over the body, hepatosplenomegaly and pancytopenia with typical features on microscopy of hair shaft. Keyword :Griscelli syndrome, albinism, immunodeficiency.