范科尼贫血与脑血管异常。
Fanconi's anaemia and cerebrovascular anomaly.
作者信息
Mahato M P, Sharma D B, Shukla Rashmi
机构信息
Department of Paediatrics, ASCOMS and Hospital, Jammu, India.
出版信息
BMJ Case Rep. 2011 Jul 7;2011:bcr0120102680. doi: 10.1136/bcr.01.2010.2680.
Abstract
Fanconi's anaemia (FA) is a paradigm of congenital anomalies including almost all systems. But FA with cerebrovascular anomalies is rare. The authors report a case of FA with hypoplasia of the posterior cerebral circulation including the basilar artery, bilateral vertebral arteries, posterior cerebral and posterior communicating arteries. The diagnosis of FA was established on the basis of induced chromosomal breakage study with mitomycin C.
摘要
范科尼贫血（FA）是一种先天性异常的范例，几乎累及所有系统。但伴有脑血管异常的FA较为罕见。作者报告了一例FA患者，其大脑后循环发育不全，包括基底动脉、双侧椎动脉、大脑后动脉和后交通动脉。FA的诊断基于丝裂霉素C诱导的染色体断裂研究得以确立。
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