title: Chédiak-Higashi syndrome: a case report on an African infant.
abstract: An African Kenyan female infant was born with very light skin and ashen grey, scanty hair. At 18 months she presented with a bluish skin pigmentation, hepatosplenomegaly, generalised lymphadenopathy and non-responsive fever. A bone marrow aspirate and peripheral blood examination done revealed characteristic features of the Chédiak-Higashi Syndrome. This is a rare disorder, to our knowledge not previously described in Africans. The case is presented with a brief review of the literature.
authors: Aga Khan Hospital Nairobi, Kenya.
authors: F N
authors: FN
authors: Nantulya
authors: G W
authors: GW
authors: Kitonyi
authors: P N
authors: PN
authors: Kituuka
authors: J
authors: J
authors: Owade
mesh_terms: D002609:Chediak-Higashi Syndrome / Q000175:diagnosis* / Q000453:epidemiology; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D007630:Kenya / Q000453:epidemiology