Griscelli syndrome: Rare neonatal syndrome of recurrent hemophagocytosis

Griscelli syndrome (GS) is a rare inherited disease characterized by immuno deficiency and partial albinism. The microscopic findings of the skin and h air are highly suggestive of the disease. The GS locus colocalizes on chrom osome 15q21 with the myosin-Va gene (MYO5a), and mutations have been identi fied in few patients. We describe a 2-month-old Hispanic girl with severe p ancytopenia secondary to hemophagocytosis. Even though a mutation at the Gr iscelli locus had not been identified. her clinical features and outcome we re typical of GS. The purpose of this article is to alert physicians to the association between GS and hemophagocytosis. We suggest that GS should be considered in infants with hemophagocytosis because the features of partial albinism can be subtle. The relevant literature is summarized.