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一名患有凝血因子V莱顿突变的患者自发出现截瘫。

Spontaneously developed paraplegia in a patient with Factor V Leiden mutation.

作者信息

Boyraz Ismail, Koc Bunyamin, Cogalgil Sirzat

机构信息

Department of Physical Medicine and Rehabilitation, Abant Izzet Baysal University Medical Faculty , Bolu, Turkey.

出版信息

Spinal Cord Ser Cases. 2016 Apr 7;2:15039. doi: 10.1038/scsandc.2015.39. eCollection 2016.

Abstract

Factor V Leiden (FVL) mutation is the one-point mutation in G1691A in the tenth exon of the gene for Factor V, caused by the substitution of glutamine for arginine at codon 506. We present here a patient with a mutation of the Factor V gene and taking anticoagulant therapy, who became paraplegic following surgery for dural hematoma and spontaneous spinal intramedullary hematoma. His physical examination revealed T5 ASIA A, complete paraplegia. Our case is important in the literature, as being the first case with spinal intramedullary hematoma that developed due to anticoagulant use.

摘要

凝血因子V莱顿(FVL)突变是凝血因子V基因第十外显子中G1691A处的单点突变,由密码子506处的精氨酸被谷氨酰胺替代引起。我们在此报告一名患有凝血因子V基因突变且正在接受抗凝治疗的患者,该患者在硬膜外血肿和自发性脊髓髓内血肿手术后出现截瘫。他的体格检查显示为T5级美国脊髓损伤协会(ASIA)损伤分级A,完全性截瘫。我们的病例在文献中具有重要意义,因为它是首例因使用抗凝剂而发生脊髓髓内血肿的病例。

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