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Indian J Pediatr ; 2004 Feb; 71(2): 173-5
Artigo em Inglês | IMSEAR | ID: sea-81899

RESUMO

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.


Assuntos
Síndrome de Chediak-Higashi/diagnóstico , Diagnóstico Diferencial , Hepatomegalia/genética , Humanos , Síndromes de Imunodeficiência/diagnóstico , Lactente , Masculino , Pancitopenia/genética , Piebaldismo/genética , Esplenomegalia/genética
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