Griscelli Syndrome; A case report and review of the literature

ABSTRACT

Griscelli syndrome [GS] is a rare disease first described in 1978. It is inherited in autosomal recessive pattern. This disease is characterized by partial albinism, pigmentation dilution, cellular immunodeficiency, neurological involvement and uncontrolled phases of macrophage and lymphocyte activation. We report a 5 months Old Iranian girl presenting with silver-gray hair, eyelashes and eyebrows, hepatosplenomegaly, pancytopenia, hemophagocytosis and progressive neurologic deterioration. Griscelli syndrome can be suggested according to her symptoms. The chemotherapy was not effective for her and she died due to multi organ failure