摘要
报道1例由亚甲基四氢叶酸还原酶(methylenetetrahydrofolate reductse,MTHFR)基因突变所致脑小血管病、中度高同型半胱氨酸血症病例。患者为61岁男性,表现为舌根发硬伴言语不清、同时有双手麻木及双下肢乏力。既往反复发生脑梗死、脑出血,伴脑白质病、脑微出血等。血同型半胱氨酸(homocysteine,Hcy)66.2μmol/L。头颅磁共振提示右侧顶枕叶、胼胝体左侧压部亚急性脑梗死和脑白质病变。皮肤病理提示小纤维密度正常,表皮和真皮内血管周围炎细胞浸润,超微电镜提示真皮层内广泛小血管的内皮细胞肿胀。全外显子测序提示MTHFR基因c.665C>T(p.A222V)纯合致病性突变。经治疗1个月后,血Hcy降至20.5μmol/L。本报道提示高同型半胱氨酸血症(hyperhomocysteinemia,HHcy)不仅与脑白质病变有关,也可导致皮肤小血管病变,应重视该类人群外周血管筛查,以早期干预潜在风险。
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)66.2μmol/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 20.5μmol/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.
作者
程先茹
栾兴华
曹立
田沃土
CHENG Xianru;LUAN Xinghua;CAO Li;TIAN Wotu(Department of Neurology,Shanghai Jiao Tong University Affiliated Sixth People’s Hospital,Shanghai 200233,China;Shanghai Neurological Rare Disease Biobank and Precision Diagnostic Technical Service Platform,Suzhou Hospital of Anhui Medical University,Suzhou 234000,China)
出处
《中国神经精神疾病杂志》
北大核心
2025年第2期126-128,I0001,共4页
Chinese Journal of Nervous and Mental Diseases
基金
国家自然科学基金(编号:82371255,82201398,82071258)
上海市优秀学术带头人(编号:23XD1402500)
上海市“科技创新行动计划”(编号:23DZ2291500)
上海市卫生健康领军人才(编号:2022LJ011)
医企融合创新成果转化专项(编号:SHDC2022CRD037)
中国博士后基金面上项目(编号:2022M712117)
上海浦江人才计划(编号:22PJD052)
上海市第六人民医院基础科研青年学者培育项目(编号:YNQN202224)。
关键词
高同型半胱氨酸血症
亚甲基四氢叶酸还原酶
皮肤活检
表皮神经纤维密度
电镜
Hyperhomocysteinemia
Methylenetetrahydrofolate reductase
Skin biopsy
Intraepidermal nerve fiber density
Electron microscopy
作者简介
通信作者:田沃土(E-mail:wotu_tian@163.com)。
