Griscelli syndrome.
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.
Rath
Sanjeev
S
Division of Pediatric Hematology and Oncology, Advanced Pediatric Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Jain
Vivek
V
Marwaha
R K
RK
Trehan
Amita
A
Rajesh
L S
LS
Kumar
Vijay
V
D002609:Chediak-Higashi Syndrome / Q000175:diagnosis; D003937:Diagnosis, Differential; D006529:Hepatomegaly / Q000235:genetics; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis* / Q000235:genetics; D007223:Infant; D008297:Male; D010198:Pancytopenia / Q000235:genetics; D016116:Piebaldism / Q000235:genetics*; D013163:Splenomegaly / Q000235:genetics