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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 Tetrahydrobiopterin deficiency and phenylketonuria can cause secondary epilepsy, this study to explore the clinical and laboratory characteristics of two types of patients. Methods Two groups of patients were compared epileptic age, seizure patterns, characteristics of EEG and treatment prognosis. Results Of the 391 patients with hyperphenylalaemia who had a late treatment, there were 98 patients with phenylketonuria and 12 patients with tetrahydrobiopterin deficiency who had epilepsy. Seventy-eight patients with seizures of phenylketonuria were 10.7 ± 4.6 (4.5-27.1) months in various forms, of which 55 (56.1%) had infantile spasms. After sodium valproate and other antiepileptic drugs, epilepsy is more difficult to control, by the low phenylalanine diet clinical euthymes and EEG were reduced. The age of epilepsy in 12 cases with tetrahydrobiopterin deficiency was 5.1 ± 1.9 (2.7 ~ 11.0) months, which was mainly manifested as limb-like torsion and gas-like symptoms. Ten patients underwent EEG examination, three had mild epileptiform discharges, and seven had normal EEG. After treatment EEG no specific changes. After taking metropodan, the attack was immediately brought under control. Conclusions The mechanisms of epilepsy caused by tetrahydrobiopterin deficiency and phenylketonuria are different. The onset age, form and electroencephalogram (EEG) manifestations of two groups of patients were significantly different. The treatment methods and prognosis were completely different.