Corbeel L, Van den Berghe G, Jaeken J, Van Tornout J, Eeckels R
Eur J Pediatr. 1985 Mar;143(4):284-90. doi: 10.1007/BF00442302.
A Turkish girl presented with a history of fever, diarrhoea, convulsions, recurrent infections and failure to thrive from the age of 5 months. Megaloblastic anaemia was present and profound folate deficiency was evidenced in plasma and in CSF. Treatment with oral folic acid cured the anaemia, diarrhoea and infections but failed to prevent convulsions and the appearance of mental retardation and cerebral calcifications. Loading tests with folic acid and its derivatives led to the conclusion that the folate deficiency was caused by a defect in folate transport both across the gut and the blood-brain barrier. Low plasma concentrations of methionine prompted a therapeutic trial with methionine associated with vitamin B12 and folic acid that spectacularly improved the convulsions.
一名土耳其女孩自5个月大起就有发热、腹泻、惊厥、反复感染及发育不良的病史。存在巨幼细胞贫血，血浆和脑脊液中均证实有严重的叶酸缺乏。口服叶酸治疗治愈了贫血、腹泻和感染，但未能预防惊厥以及智力发育迟缓与脑钙化的出现。叶酸及其衍生物的负荷试验得出结论，叶酸缺乏是由叶酸跨肠道和血脑屏障转运缺陷所致。血浆蛋氨酸浓度低促使进行了蛋氨酸与维生素B12及叶酸联合的治疗试验，该试验使惊厥得到显著改善。
