First report of Griscelli syndrome from Afghan population in IRAN

Journal of Research in Medical Sciences

关键词: Griscelli syndrome, partial albinism, hemophagocytic lymphohistiocytosis;   

DOI  :  

来源: DOAJ

【 摘 要 】

• 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.
• KEYWORDS: Griscelli syndrome, partial albinism, hemophagocytic lymphohistiocytosis

【 授权许可】

Unknown