Abstract
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.
Highlights
Chediak-Higashi Syndrome (CHS) is a rare autosomal recessive disorder of all lysosomal granule containing cells with clinical features involving the hematologic and neurologic systems
Iron store ranged from grade II to III. These findings suggested the diagnosis of Chediak-Higashi Syndrome
Chediak-Higashi Syndrome (CHS) is a rare inherited immunodeficiency disorder characterized by abnormal intracellular protein transport
Summary
Chediak-Higashi Syndrome (CHS) is a rare autosomal recessive disorder of all lysosomal granule containing cells with clinical features involving the hematologic and neurologic systems. Morbidity results from patients succumbing to frequent bacterial infections or due to development of accelerated phase. Past history of recurrent episodes of fever and chest infections were present since birth, approximately 5-6 episodes per year.
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