Author/Authors :
Sayyahfar, Shirin shahid beheshti university of medical sciences, تهران, ايران , Karimi, Abdallah shahid beheshti university of medical sciences - Pediatric Infectious Research Center, تهران, ايران , Fahimzad, Alireza shahid beheshti university of medical sciences - Pediatric Infectious Research Center, تهران, ايران , Gharubi, Javad shahid beheshti university of medical sciences - Department of Pediatr ic Surgery, تهران, ايران , Gharib, Atoosa shahid beheshti university of medical sciences - Department of Pathology, تهران, ايران , Armin, Shahnaz shahid beheshti university of medical sciences - Pediatric Infectious Research Center, تهران, ايران
Abstract :
A 4 month old Afghan male infant presented with partial alb inism , hepatosplenomegaly and pancytopenia. Skin andhair shaft microscopic examination revealed large clumped mclanosomes and Griscelli syndrome was diagnosed.Unless treated with bone marro w transplantation, it is a fata l disease in accelerated phase . Pediatrician s shou ld consi derthis syndrome in infants with abnormal light hair because ea rly diagnosi s cou ld be life saving.