Chediak-Higashi syndrome: report of a case with uncommon presentation and review literature
Kanjanapongkul, S.
Journal of the Medical Association of Thailand 89(4): 541-544
2006
ISSN/ISBN: 0125-2208 PMID: 16696403 Document Number: 604339
Chediak-Higashi syndrome (CHS) is a very rare autosomal recessive immunodefiency disorder characterized by partial albinism, recurrent pyogenic infections, and large granules in all granule-containing cells. The author describes a Thai girl who was the first case of CHS in Thailand. She presented in the accelerated phase of CHS, which leads to repeated infections and bleeding, often resulting in fatal outcome. Pancytopenias, hepatosplenomegaly, lymphohistiocytic infiltration in bone marrow and the abnormal characteristic granules in leukocyte clinched the diagnosis.