Document Detail

Chédiak-Higashi syndrome: a case report on an African infant.
MedLine Citation:
PMID:  2253577     Owner:  NLM     Status:  MEDLINE    
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.
F N Nantulya; G W Kitonyi; P N Kituuka; J Owade
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  East African medical journal     Volume:  67     ISSN:  0012-835X     ISO Abbreviation:  East Afr Med J     Publication Date:  1990 Sep 
Date Detail:
Created Date:  1991-01-24     Completed Date:  1991-01-24     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  0372766     Medline TA:  East Afr Med J     Country:  KENYA    
Other Details:
Languages:  eng     Pagination:  674-80     Citation Subset:  IM    
Aga Khan Hospital Nairobi, Kenya.
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MeSH Terms
Chediak-Higashi Syndrome / diagnosis*,  epidemiology
Diagnosis, Differential
Kenya / epidemiology

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