Wong P W, Justice P, Hruby M, Weiss E B, Diamond E
Pediatrics. 1977 May;59(5):749-56.
Four siblings from a family with 11 children of Irish ancestry were observed to suffer from an essentially identical clinical illness, consisting of delayed psychomotor development in infancy and childhood, severe mental retardation, and upper motor neuron dysfunction. Death occurred at an early age in three siblings. In cases in which detailed physical examinations were performed, ectopia lentis, marfanoid features, and severe bony deformities were absent. Homocystinuria, homocystinemia, relatively normal concentrations of methionine and cystine in tissue fluids, and absence of methylmalonic aciduria were found. A deficiency of methylenetetrahydrofolate reductase was demonstrated in cultured skin fibroblasts from two siblings. Postmortem examination of two of the three patients who died showed extensive vascular thrombosis. No biochemical improvement was observed in the surviving child following treatment with large doses of folic acid.
一个有11个孩子且为爱尔兰血统的家庭中的4个兄弟姐妹，被观察到患有基本相同的临床疾病，包括婴幼儿期和儿童期精神运动发育迟缓、严重智力障碍以及上运动神经元功能障碍。3个兄弟姐妹在幼年时死亡。在进行详细体格检查的病例中，未见晶状体异位、类马方综合征特征和严重骨骼畸形。发现有高胱氨酸尿症、高胱氨酸血症，组织液中甲硫氨酸和胱氨酸浓度相对正常，且无甲基丙二酸尿症。在两名兄弟姐妹的培养皮肤成纤维细胞中证实存在亚甲基四氢叶酸还原酶缺乏。3名死亡患者中的2名尸检显示广泛血管血栓形成。存活儿童在大剂量叶酸治疗后未观察到生化指标改善。
