A case of cerebral small vascular disease and hyperhomocysteinemia caused by methylenetetrahydrofolate reductase deficiency
10.3969/j.issn.1002-0152.2025.02.011
- VernacularTitle:亚甲基四氢叶酸还原酶缺陷所致脑小血管病和高同型半胱氨酸血症1例
- Author:
Xianru CHENG
1
;
Xinghua LUAN
;
Li CAO
;
Wotu TIAN
Author Information
1. 上海交通大学医学院附属第六人民医院神经内科,上海市神经系统罕见疾病生物样本库和精准诊断专业技术服务平台(筹)(上海 200233);安徽医科大学附属宿州医院神经内科
- Publication Type:Journal Article
- Keywords:
Hyperhomocysteinemia;
Methylenetetrahydrofolate reductase;
Skin biopsy;
Intraepidermal nerve fi-ber density;
Electron microscopy
- From:
Chinese Journal of Nervous and Mental Diseases
2025;51(2):126-128,后插1
- CountryChina
- Language:Chinese
-
Abstract:
A case of small cerebral vascular disease and moderate hyperhomocysteinemia caused by methylenetetrahydrofolate reductase gene mutation is reported.The patient was a 61-year-old man who presented with tongue stiffness and slurred speech,bilateral hand numbness and lower limb weakness.He had a history of recurrent cerebral infarction,cerebral hemorrhage,accompanied by leukoencephalopathy and cerebral microhemorrhage etc.Blood homocysteine(Hcy)66.2 μmol/L.Head magnetic resonance imaging revealed subacute cerebral infarction and white matter lesions in right parieto-occipital lobe and left pressor corpus callosum.The skin pathology showed normal density of small fibers,infiltration of perivasculitis cells in the epidermis and dermis,and swelling of endothelial cells in a wide range of small vessels in the dermis.Whole exon sequencing indicated homozygous pathogenic mutation of MTHFR gene c.665C>T(p.A222V).After 1 month of treatment,Hcy decreased to 20.5 μmol/L.This report suggests that HHcy is not only associated with leucoencephalopathy,but also can lead to skin small vessel lesions.Attention should be paid to peripheral vascular screening in this population for early intervention of potential risks.
