1.
Indian J Pediatr
;
2004 Feb; 71(2): 173-5
Article
in English
| IMSEAR
| ID: sea-81899
ABSTRACT
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.
Subject(s)
Chediak-Higashi Syndrome/diagnosis , Diagnosis, Differential , Hepatomegaly/genetics , Humans , Immunologic Deficiency Syndromes/diagnosis , Infant , Male , Pancytopenia/genetics , Piebaldism/genetics , Splenomegaly/genetics
2.
Indian J Pediatr
;
1987 Sep-Oct; 54(5): 775-8
Article
in English
| IMSEAR
| ID: sea-78870