Chediak-Higashi Syndrome Presented as Accelerated Phase in a 3 Year GirlChild: Case Report of a Rare Entity

Chediak-Higashi Syndrome is a rare autosomal recessive disease, characterized by oculocutaneous albinism, recurrent pyogenic infections of skin, mucosa and respiratory system, prolonged bleeding time, easy bruisability and neurologic deficit. The hallmark of this syndrome is the presence of abnormal intracytoplasmic giant granules in all granule containing cells including leukocytes in blood and bone marrow. We here report a case of Chediak-Higashi Syndrome in a 3 year old girl child who had recurrent chest infections, pancytopenia, hypopigmentation, lymphadenopathy and hepatosplenomegaly.