CHEDIAK-HIGASHI SYNDROME IN 15 MONTHS OLD BOY
Abstract
Background. Syndrome Chediak-Higashi (SCH) is a rare autosome recesive hereditary disorder characterized by abnormal intracellular protein transport. A prominent feature of this disease is the accumulation of enlarged cytoplasmic granules in a variety of cells with damaging their functions. The condition is characterized by increased susceptibility for infections because of disturbance in degranulation of neutrophils, impaired chemotaxis and bactericidal activity, abnormal natural killer cell function, bleeding as a result of deficient platlet dense bodies, partial oculocutaneous albinism and progressive peripheral neuropathy. The disease is often fatal in childhood as a result of infection or an accelerated lymphoma-like phase with nonmalignant lymphohistiocytic infiltrates of various organs. An accelerated phase occurs in more than 80% of patients and it is manifested by pancytopenia, hypertriglyceridemia and bleeding disorders. Remissions, which are usually only transient in this stage of the disease, are reached with combined treatment comprising etoposide, steroids and methotrexate. The only therapeutic strategy capable of curing the disease is bone marrow transplantation.
Methods and patients. We introduce a boy, who was treated for recurrent bacterial infections as an infant. He also had an oculocutaneous albinism and a neurologic involvement. At the age 15 months diagnosis of SCH in accelerated phase with involvement of liver, spleen, lymph nodes, bone marrow and brain was made. Remission of the disease was achieved by combined treatment with etoposide, steroids and methotrexate.
Conclusions. This article is the first description of a patient with SCH in Slovenia. We also describe efficient treatment of accelerated phase of the disease which led to remission.
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References
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