Syndrome of immunodeficiency, partial albinism and normal white cell morphology (Griscelli or variant Chediak-Higashi syndrome): Case report and a review of the literature

Griscelli syndrome is one of the hereditary lymphohistiocytic disorders wit h partial oculocutaneious albinism and white cell defects. It is associated with hepatosplenomegaly, periodic fevers, infections, seizures, neutropeni a, thrombocytopenia, immune dysfunction and death in early childhood. It di ffers from Chediak-Higashi syndrome by having morphologically normal periph eral granulocytes instead of the coalescence of giant granules. A history o f consanguinity and Turkish or Arabic ethnic origin predominated the 28 cas es reported in the literature. We present the first reported case of Grisce lli syndrome in a 3 month old Hispanic boy in the U.S.A. Our patient presen ted with fever and intractable seizures. Diagnosis was made by microscopic examination of his silvery hair shaft. He died within a week of presentatio n. A review of the literature highlighting clinical and laboratory diagnost ic features is also described to enhance early identification and treatment . Bone marrow transplantation has been successful if performed early in the course of the disease.