Del Giudice E, Striano S, Andria G
Clin Neurol Neurosurg. 1983;85(3):165-8. doi: 10.1016/0303-8467(83)90046-x.
Nineteen homocystinuric patients--13 children and 6 adults--were identified in the course of a selective screening for homocystinuria due to cystathionine synthase deficiency. Treatment with high doses (300-1200 mg/day) of pyridoxine was carried out in 17 patients, of whom 15 were completely responsive. In 10 patients EEG abnormalities were observed consisting mainly of a mild diffuse non specific slowing of background activity. In two sisters, with no history of seizures, focal paroxymal activity was also recorded. EEG recordings before and after B6 treatment were available in 16 patients, one of whom was a non responder, during treatment seven normal and six abnormal EEGs showed no change whereas three previously abnormal EEGs were classified as normal.
在因胱硫醚合成酶缺乏导致的同型胱氨酸尿症的选择性筛查过程中，共识别出19例同型胱氨酸尿症患者，其中13例为儿童，6例为成人。17例患者接受了高剂量（300 - 1200毫克/天）的吡哆醇治疗，其中15例完全有反应。10例患者观察到脑电图异常，主要表现为背景活动轻度弥漫性非特异性减慢。在两名无癫痫发作史的姐妹中，还记录到局灶性发作性活动。16例患者有B6治疗前后的脑电图记录，其中1例无反应，治疗期间7例正常脑电图和6例异常脑电图无变化，而3例先前异常的脑电图被分类为正常。
