Abstract

Chediak-Higashi Syndrome (CHS) is a rare, usually fatal, outosomal recessive disease characterized by recurrent infections, oculocutaneous albinisms, progressif neurologic dysfunction. Accelerated phase occurs in 85% of the patients. Ebstein-Barr Virus or other lymphotropic viral infection may initiate this phase characterized by a lymphoma like picture with fever, generalized lymphadenopathy, hepatosplenomegaly, pancytopenia and sepsis. There is reduced activity of NK cells and dysfunction of leukocyte chemotaxis. Identification of giant cytoplasmic granules in the leukocytes and their precursors in the bone marrow may confirm the diagnosis. There is no spesific treatment for Chediak-Higashi Syndrome. High dose ascorbic acid has improved the clinical status. Antibiotics are valuable during acute infections. Chemotherapy can induce transient remission of the accelerated phase. Allogenic bone marrow transplantation has been found to be successful in some patients. Nistagmus, silver gray hair, giant intracellüler granules in myeloid cells, hepatosplenomegaly and pancytopenia implied the accelerated phase of CHS in our case. The determination of 22% of activity of phago-burst test was interpreted in fauor of decreased bactericidal activity. It is reported because of its rarity.