Chediak-Higashi Syndrome: A case report

Introduction: Chediak-Higashi syndrome is a rare autosomal recessive disorder that characterized by severe immunodeficiency. It is also associated with a lymphoproliferative disorder termed the accelerated phase with lymphocytic infiltration of the major organ of the body. Case Report: The patients was a 1-year old boy with intermittent fever, anorexia, malaise. On physical examination he showed grey hair colour, tonsilar erythema and exudate and splenomegaly. Pancytopenia was detected. In bone marrow aspiration and hair microscopy remarkable intracytoplasmic pigmented granules was seen. Conclusion: It should be noted when pancytopenia, organomegaly and light hair colour are present an early bone marrow transplantation should be considered if the diagnosis is stablished.