Baethmann M, Wendel U, Hoffmann G F, Göhlich-Ratmann G, Kleinlein B, Seiffert P, Blom H, Voit T
Department of Pediatrics, University Hospital, Essen, Germany.
Neuropediatrics. 2000 Dec;31(6):314-7. doi: 10.1055/s-2000-12947.
Hydrocephalus internus (HCI) of all four ventricles in association with early neurological abnormalities is described as the presenting symptom in two patients with 5,10-methylenetetrahydrofolate reductase (MTHFR) deficiency. Decreased activity of MTHFR leads to reduction of 5-methyltetrahydrofolate, the main methyl donor for methionine synthesis necessary for synthesis of S-adenosyl-methionine (SAM). Demyelination in MTHFR deficiency has been attributed to low SAM levels in the brain. The biochemical hallmarks of the disorder are hyperhomocystinemia, homocystinuria and low levels of plasma methionine. Hydrocephalus internus requiring neurosurgical intervention has to our knowledge not been reported as a presenting feature of homocystinuria due to deficiency of MTHFR so far. The surprising finding of HCI of all four ventricles in MTHFR deficiency must be kept in mind when evaluating patients with hydrocephalus of unknown origin.
两名患有5,10-亚甲基四氢叶酸还原酶（MTHFR）缺乏症的患者出现了伴有早期神经功能异常的全四脑室脑内积水（HCI），这被描述为主要症状。MTHFR活性降低导致5-甲基四氢叶酸减少，而5-甲基四氢叶酸是合成S-腺苷甲硫氨酸（SAM）所需的蛋氨酸合成的主要甲基供体。MTHFR缺乏症中的脱髓鞘被认为是由于大脑中SAM水平低所致。该疾病的生化特征为高同型半胱氨酸血症、同型胱氨酸尿症和血浆蛋氨酸水平低。据我们所知，迄今为止，尚未有因MTHFR缺乏导致的同型胱氨酸尿症将需要神经外科干预的脑内积水作为主要特征的报道。在评估不明原因脑积水的患者时，必须牢记MTHFR缺乏症中全四脑室脑内积水这一惊人发现。
