Introduction
Griscelli Syndrome (GS) is a rare autosomal recessive disorder characterized by immunodeficiency and partial albinism’. It results in pigmentary dilution of the skin and hair (silver hair), with large clumps of melanosomes on microscopy of hair shafts.’ One variant of this fatal discase presents with
hepatospenomegaly, lymphohistiocytosis, and a combined T and B-cell immunodeficiency. The disease seems to be invariably lethal without bone marrow transplantation? It was first described by Griscelli in 1978, and since then only around 101 cases have been reported.’ To the best of our knowledge this is the first case report from Pakistan. We present an infant with classic clinical features and confirmatory findings of hemophagocytosis on bone marrow biopsy. Click here to read more