Kanaya Yuhei, Neshige Shuichiro, Takemaru Makoto, Shiga Yuji, Takeshima Shinichi, Kuriyama Masaru
Department of Neurology, and Department of Radiology, Brain Attack Center Ota Memorial Hospital.
Rinsho Shinkeigaku. 2016;56(2):116-9. doi: 10.5692/clinicalneurol.cn-000819. Epub 2016 Jan 21.
A 63-year-old man was admitted to our hospital because of convulsive seizures. Radiological examinations revealed cerebral venous sinus thrombosis in the anterior part of the superior sagittal sinus. He had marked hyperhomocysteinemia (93.5 nmol/ml) due to combined deficiencies of folate and vitamin B12. He was T/T homozygous for methylene tetrahydrofolate reductase C677T polymorphism. He received a supplement therapy of vitamins. First, he was administered folate orally. After 3 months, the serum level of homocysteine decreased to 22.6 nmol/ml (an 86% reduction), but was still above the normal level. Next, an additional supplement therapy of vitamin B12 lowered the homocysteine level to normal (12.3 nmol/ml) after 4 months. These results showed that the increase of homocysteine levels in this patient was mainly caused by the deficiency of folate. Additionally, acquired risk factors like vitamin deficiencies increased the level of serum homocysteine to almost 100 nmol/ml.
一名63岁男性因惊厥发作入院。影像学检查显示上矢状窦前部脑静脉窦血栓形成。由于叶酸和维生素B12联合缺乏，他患有明显的高同型半胱氨酸血症（93.5 nmol/ml）。他是亚甲基四氢叶酸还原酶C677T多态性的T/T纯合子。他接受了维生素补充治疗。首先，给他口服叶酸。3个月后，同型半胱氨酸的血清水平降至22.6 nmol/ml（降低了86%），但仍高于正常水平。接下来，额外补充维生素B12在4个月后将同型半胱氨酸水平降至正常（12.3 nmol/ml）。这些结果表明，该患者同型半胱氨酸水平的升高主要是由叶酸缺乏引起的。此外，维生素缺乏等后天危险因素使血清同型半胱氨酸水平升高至近100 nmol/ml。
