高苯丙氨酸血症的抽搐机制研究  

Comparative study on secondary seizure to tetrahydrobiopterin and phenylketonuria.

作　　者：王琳[1] 喻唯民[1] 李晓雯[1] 贺春[1] 周忠蜀[1] 王桂芝[1] 常明[1] 赵世萍[1] 付桂香[1] 刘孜孜 萧广仁 

机构地区：[1]卫生部中日友好医院,北京100039 [2]台湾阳明大学

出　　处：《中国优生与遗传杂志》2006年第7期112-114,共3页Chinese Journal of Birth Health & Heredity

基　　金：国家自然科学基金(30271372)~~

摘　　要：目的 四氢生物喋呤缺乏症和苯丙酮尿症均可导致继发性癫痫，本研究拟探讨两类患者的临床与实验室特点。方法将两组患者出现癫痫的年龄、发作形式、脑电图特点及治疗预后进行比较。结果 在391例晚治的高苯丙氨酸血症患者中，共有98例苯丙酮尿症和12例四氢生物喋呤缺乏症患者合并癫痫。98名苯丙酮尿症患者出现癫痫发作的年龄是10．7±4．6（4．5～27．1）个月，表现为多种形式，其中55例（56．1％）表现为婴儿痉挛症。经丙戊酸钠和其他抗癫痫药物治疗后，癫痫较难控制，经低苯丙氨酸饮食治疗后临床发作及脑电图均有所减轻。12例四氢生物喋呤缺乏症患儿出现癫痫的年龄为5．1±1．9（2．7～11．0）个月，主要表现为肢体铅管样扭转，哈气样症状。其中10例患者进行了脑电图检查，3例有轻度的痫样放电，7例脑电图正常。治疗后随访脑电图无特异性变化。在服用美多巴后，发作立即得到控制。结论四氢生物喋呤缺乏症和苯丙酮尿症导致癫痫的机制不同，两组患者发作开始年龄、形式、脑电图表现差异显著，治疗方法及预后完全不同。Objective： Seizure could be caused by both tetrahydrobiopterin （BH4） deficiency and phenylketonuria （PKU）. The objective of this study is to explore the clinical and laboratory features of seizure secondary to the two kinds of diseases. Methods ： The age of onset, clinical manifestation）, electroencephalogram （EEG）, treatment and outcome of seizure were compared in the two groups of patients. Results： Among 391 late-treated patients with hyperphenylalaninemia （ HPA）, 98 PKU and 12 BH4 deficient patients experienced seizure. Seizure of the 98 PKU cases appeared at the age of 10. 7±4. 6 .（4. 5-27. 1 ） months. They displayed various patterns and 55 （56. 1% ） of them presented infantile spasm. They were very difficult to be controlled after administration of sodium valproate and other anticonvulsant drugs. The onset and EEG turned to be less severe after treatment with low-phenylalanine diet. However, seizure of the 12 BH4 deficient cases appeared at the age of 5.1±1.9 （2. 7-11.0） months. They presented lead - pipe turning of limbs, sometimes with yawn mouth. They were controlled immediately after the administration of levodopa. EEG was carried out in 10 cases, among which 3 were found to have slight epileptiform discharge, and the other 7 have normal EEG. The EEG tracing didn＇t reveal any specific change after treatment. Conclusion： The mechanism of secondary seizure to BH4 deficiency is different from that to PKU. There is significant difference in onset age, clinical manifestation and EEG of seizure in the two diseases as well as their treatment and prognosis.

关 键 词：高苯丙氨酸血症 苯丙酮尿症 四氢生物喋呤缺乏症 抽搐 脑电图 

分 类 号：R725.8[医药卫生—儿科]