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Indian J Pediatr ; 2004 Feb; 71(2): 173-5
Article Dans Anglais | IMSEAR | ID: sea-81899

Résumé

An eight month old male infant presented with recurrent infections and partial albinism. Initially a possibility of Chediak Higashi syndrome (CHS) was considered, but a negative investigative work up prompted us to look for an alternate diagnosis. A literature search revealed that Griscelli syndrome (GS) has overlapping symptoms and signs. The findings in skin and hair biopsies in Griscelli syndrome are distinctive.


Sujets)
Syndrome de Chediak-Higashi/diagnostic , Diagnostic différentiel , Hépatomégalie/génétique , Humains , Déficits immunitaires/diagnostic , Nourrisson , Mâle , Pancytopénie/génétique , Piébaldisme/génétique , Splénomégalie/génétique
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