A case of cerebral small vascular disease and hyperhomocysteinemia caused by methylenetetrahydrofolate reductase deficiency
Journal Title: Chinese Journal of Nervous and Mental Diseases - Year 2025, Vol 51, Issue 2
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.
Authors and Affiliations
Xianru CHENG, Xinghua LUAN, Li CAO, Wotu. TIAN
Keywords
Related Articles
- EP ID EP764330
- DOI 10.3969/j.issn.1002-0152.2025.02.011
- Views 17
- Downloads 0
A study on the correlation between smoking, light to moderate alcohol consumption, and cognitive function in elderly men in the community
[Objective] To explore the correlation between smoking, light to moderate alcohol consumption and cognitive function in elderly men in the community. [Methods] One thousand two hundred one elderly men (excluding heavy dr...
The correlation between cerebral perfusion and auditory cognitive ability in patients with amnestic mild cognitive impairment
[Objective] To explore the correlation between changes in cerebral blood flow and auditory cognitive function in patients with amnestic mild cognitive impairment (aMCI). [Methods] The aMCI patients who visited the Memory...
A fragile X syndrome family with epilepsy
Fragile X syndrome (FXS) is caused by abnormal duplication and amplification of the FMR1 gene CGG. This article reports a pair of brothers diagnosed with FXS by genetic testing. Two patients, aged 15 and 14 years old res...
Research status of non-drug treatment of vestibular migraine
Due to the limitations of drug treatment of vestibular migraine VM,the exploration of non-drug treatment is particularly important. In recent years,the research on non-drug treatment of VM mainly focuses on four aspects:...
Molecular basis underlying gray matter volume changes in patients with AIWG: a transcriptome-neuroimaging study
[Objective] To investigate the gray matter volume (GMV) changes and molecular basis underlying antipsychotic-induced weight gain (AIWG). [Methods] One hundred twenty-nine first-episode schizophrenia patients from October...