Chediak-Higashi Syndrome: Report of a Case with Uncommon Presentation and Review Literature
Somjai Kanjanapongkul MD*
Affiliation : * Hemato/oncology Unit, Queen Sirikit National Institute of Child Health
Chediak-Higashi syndrome (CHS) is a very rare autosomal recessive immunodefiency disorder char- acterized 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 char- acteristic granules in leukocyte clinched the diagnosis.
Keywords : Accelerated phase, Chediak-Higashi syndrome, Immunodeficiency disorder
