Botez M I, Cadotte M, Beaulieu R, Pichette L P, Pison C
Can Med Assoc J. 1976 Aug 7;115(3):217-23.
Six women aged 31 to 70 years had folate deficiency and neuropsychiatric disorders. The three with acquired folate deficiency were depressed and had permanent muscular and intellectual fatigue, mild symptoms of restless legs, depressed ankle jerks, diminution of vibration sensation in the legs, stocking-type hypoesthesia and long-lasting constipation; D-xylos absorption was abnormal. The bone marrow was megaloblastic in only one patient, and she and one other had atrophy of the jejunal mucosa. The third was a vegan. All three recovered after folic acid therapy. The other three were members of a family with the restless legs syndrome, fatigability and diffuse muscular pain. One also had subacute combined degeneration of the spinal cord and kidney disease but no megaloblastosis; she improved spectacularly after receiving large daily doses of folic acid. The other two also had minor neurologic signs, controlled with 5 to 10 mg of folic acid daily. Unrecognized and treatable folate deficiency (with low serum folic acid values but normal erythrocyte folate values) may be the basis of a well defined syndrome of neurologic, psychiatric and gastroenterologic disorders, and the restless legs syndrome may represent the main clinical expression of acquired and familial (or inborn) folate deficiency in adults.
六名年龄在31至70岁之间的女性患有叶酸缺乏症和神经精神疾病。三名患有后天性叶酸缺乏症的女性情绪低落,伴有持续性肌肉和智力疲劳、轻度不安腿综合征症状、踝关节反射减弱、腿部振动觉减退、袜型感觉减退和长期便秘;D-木糖吸收异常。仅一名患者的骨髓呈巨幼细胞性,她和另一名患者有空肠黏膜萎缩。第三名是素食者。这三名患者在接受叶酸治疗后均康复。另外三名是一个患有不安腿综合征、易疲劳和弥漫性肌肉疼痛的家族成员。其中一名还患有亚急性联合变性脊髓病和肾病,但无巨幼细胞贫血;她在每天接受大剂量叶酸治疗后有显著改善。另外两名也有轻微的神经体征,每天服用5至10毫克叶酸可得到控制。未被识别和可治疗的叶酸缺乏症(血清叶酸值低但红细胞叶酸值正常)可能是一种明确的神经、精神和胃肠疾病综合征的基础,不安腿综合征可能是成人后天性和家族性(或先天性)叶酸缺乏症的主要临床表现。