Kuo Yu-Hung, Santoreneos Stephen, Roos Daniel, Brophy Brian P
Department of Neurosurgery, Royal Adelaide Hospital, Adelaide, South Australia.
J Neurosurg. 2007 Dec;107(6 Suppl):489-94. doi: 10.3171/PED-07/12/489.
Due to inheritance of an autosomal dominant genetic mutation, patients with hereditary hemorrhagic telangiectasia (HTT) have an increased risk of harboring a cerebral arteriovenous malformation (AVM). They are also significantly more likely to have multiple AVMs. The natural history of AVMs in patients with HHT as well as their rate of hemorrhage is not clearly defined. Furthermore, spontaneous regression of such lesions has been reported. Treatment of cerebral AVMs in patients with HHT presents a particular challenge, especially with detection of incidental lesions following screening of asymptomatic patients. The management of HHT in two pediatric patients in whom hemorrhaging from a cerebral AVM occurred but who also had other lesions is presented here. Both patients were treated with stereotactic radiosurgery.
由于常染色体显性基因突变的遗传，遗传性出血性毛细血管扩张症（HTT）患者患脑动静脉畸形（AVM）的风险增加。他们也更有可能患有多个AVM。HHT患者中AVM的自然病史及其出血率尚未明确界定。此外，已有此类病变自发消退的报道。HHT患者脑AVM的治疗面临特殊挑战，尤其是在对无症状患者进行筛查时发现偶然病变的情况下。本文介绍了两名患有脑AVM出血但也有其他病变的儿科患者的HHT治疗情况。两名患者均接受了立体定向放射外科治疗。
