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Paper Information

Journal:   JOURNAL OF RESEARCH IN MEDICAL SCIENCES (JRMS)   JANUARY-FEBRUARY 2008 , Volume 13 , Number 1; Page(s) 38 To 40.
 
Paper: 

FIRST REPORT OF GRISCELLI SYNDROME FROM AFGHAN POPULATION IN IRAN

 
 
Author(s):  SAYAH FAR SH., KARIMI A.*, FAHIMZAD S.A.R., GHOROUBI J., GHARIB A., ARMIN SH.
 
* PEDIATRICS DEPARTMENT & PEDIATRIC INFECTIOUS RESEARCH CENTER, MOFID CHILDREN HOSPITAL, TEHRAN, IRAN
 
Abstract: 

A 4 month old Afghan male infant presented with partial albinism, hepatosplenomegaly and pancytopenia. Skin and hair shaft microscopic examination revealed large clumped melanosomes and Griscelli syndrome was diagnosed. Unless treated with bone marrow transplantation, it is a fatal disease in accelerated phase. Pediatricians should consider this syndrome in infants with abnormal light hair because early diagnosis could be life saving.

 
Keyword(s): GRISCELLI SYNDROME, PARTIAL ALBINISM, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS
 
References: 
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