Spontaneous splenic rupture in a patient with factor XIII deficiency and a novel mutation.
作者信息
Khalife Hassan, Muwakkit Samar, Al-Moussawi Hayfa, Dabbous Ibrahim, Khoury Ruby, Peyvandi Flora, Abboud Miguel R
机构信息
Children's Cancer Center of Lebanon and Department of Pediatrics, American University of Beirut-Medical Center, Beirut, Lebanon.
出版信息
Pediatr Blood Cancer. 2008 Jan;50(1):113-4. doi: 10.1002/pbc.20786.
PMID:16456856
Abstract
We report a novel mutation in factor XIIIA gene that caused severe congenital factor XIII deficiency in a 6 year and 8 month old male. The mutation is a GA deletion in the core domain leading to a premature stop at codon 502. The child had severe deficiency with two episodes of intracerebral hemorrhage. He also developed spontaneous splenic rupture, an unusual complication of this disorder.
摘要
Zotero 插件