GRISCELLI SYNDROME WITH FEATURES OF HEMOPHAGOCYTOSIS; A RARE PRESENTATION

Dr. Sudhir Mehta*

ABSTRACT

Griscelli syndrome is a rare genetic immunodeficiency disorder characterized by pigment dilution, recurrent cutaneous and pulmonary infections, splenohepatomegaly, neurological deterioration, hypogammaglobulinemia, pancytopenia and defective cell-mediated immunity. Mutations of three distinct genes have been described in Griscelli syndrome with different phenotypes. The disease is usually fatal by the first decade of life. Only few cases are reported from India. We report a 3 year-old male child of Griscelli syndrome with diffuse pigment dilution with silvery hairs, recurrent infections, splenohematomegaly with features suggestive of hemo phagocytic -lymphohistiocytosis syndrome.

Keywords: Griscelli syndrome, Hemo- phagocytosis, Silvery hair.