Clayton P T, Smith I, Harding B, Hyland K, Leonard J V, Leeming R J
J Neurol Neurosurg Psychiatry. 1986 Aug;49(8):920-7. doi: 10.1136/jnnp.49.8.920.
A 2-year-old girl with 5,10-methylenetetrahydrofolate reductase deficiency developed subacute combined degeneration of the cord and a leuco-encephalopathy which was confirmed at necropsy. Total folate concentrations in serum, red cells and CSF were markedly reduced whereas vitamin B12 concentrations were normal. In addition the patient had Parkinsonism and reduced concentrations of homovanillic acid, 5-hydroxyindoleacetic acid and total biopterins in cerebrospinal fluid. Folic acid administration was accompanied by fits and acute deterioration in the movement disorder. At necropsy the basal ganglia showed no detectable abnormality.
一名患有5,10-亚甲基四氢叶酸还原酶缺乏症的2岁女孩发生了脊髓亚急性联合变性和白质脑病，尸检得以证实。血清、红细胞和脑脊液中的总叶酸浓度显著降低，而维生素B12浓度正常。此外，该患者患有帕金森症，脑脊液中的高香草酸、5-羟吲哚乙酸和总生物蝶呤浓度降低。给予叶酸后出现抽搐，运动障碍急剧恶化。尸检时基底神经节未发现可检测到的异常。
