Cerebral infarction complicated with multiple arterial thrombosis caused by cystathionine beta-synthase gene mutation in youth: a case report
10.3760/cma.j.cn113694-20210105-00012
- VernacularTitle:胱硫醚-β-合成酶基因变异致青年脑梗死合并多发动脉血栓一例
- Author:
Mei MAO
1
;
Lan CHEN
;
Xianchun ZENG
;
Yan ZHENG
;
Tingting YANG
;
Yangchun LI
;
Yuanrong YAO
Author Information
1. 贵州省人民医院神经内科，贵阳 550002
- Keywords:
Hyperhomocysteinemia;
Cystathionine beta-synthase;
Ischemic stroke;
Pulmonary embolism
- From:
Chinese Journal of Neurology
2021;54(9):952-956
- CountryChina
- Language:Chinese
-
Abstract:
Hyperhomocysteinemia (HHcy) is one of the independent risk factors for youth cerebral infarction. Gene mutation of key enzymes in homocysteine metabolism is the main cause of HHcy. Few cases of cystathionine beta-synthase (CBS) compound heterozygous mutation complicated with pulmonary embolism and lower extremity artery embolism have been reported. This article reported a young cerebral infarction patient complicated with pulmonary embolism and lower extremity artery embolism, who was subsequently detected with significantly elevated blood Hcy, and finally etiologically diagnosed with CBS 833 T>C/1082C>T compound heterozygous mutation. With the treatment of folic acid, methyl cobalt amine, vitamin B 6 and anticoagulant, the blood Hcy has been gradually declined, and no new thrombotic events occurred during the follow-up period of a year.
