1.
Indian J Pediatr
;
2004 Feb; 71(2): 173-5
Artículo
en Inglés
| IMSEAR
| ID: sea-81899
RESUMEN
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.
Asunto(s)
Síndrome de Chediak-Higashi/diagnóstico , Diagnóstico Diferencial , Hepatomegalia/genética , Humanos , Síndromes de Inmunodeficiencia/diagnóstico , Lactante , Masculino , Pancitopenia/genética , Piebaldismo/genética , Esplenomegalia/genética
2.
Indian J Pediatr
;
1987 Sep-Oct; 54(5): 775-8
Artículo
en Inglés
| IMSEAR
| ID: sea-78870