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.