Chédiak-Higashi syndrome: a case report on an African infant.
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.
Nantulya
F N
FN
Aga Khan Hospital Nairobi, Kenya.
Kitonyi
G W
GW
Kituuka
P N
PN
Owade
J
J
D002609:Chediak-Higashi Syndrome / Q000175:diagnosis* / Q000453:epidemiology; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D007630:Kenya / Q000453:epidemiology