以癫痫为首发症状的肝豆状核变性

目的总结以癫痫为首发症状的肝豆状核变性的临床特点及治疗经验。方法回顾性总结6例以癫痫为首发症状青少年肝豆状变性的临床特点,所有患者的癫痫症状明显,但经详细询问病史,认真体格检查及相关血生化、影像学等辅助检查均找到了癫痫病因。结果6例首发症状为癫痫患者的原发病为肝豆状核变性,给予驱铜、抗癫痫等治疗,随访1￣3年,症状控制良好。结论肝豆状核变性以癫痫为首发症状者少见,以癫痫症状为首诊的青少年患者应警惕肝豆状核变性为可能的病因。

Wilson's disease with epileptic seizure as its first symptom

Objective To summarize the clinical features and therapeutic experience of Wilson's disease (hepatolenticular degeneration) whose first symptom is epileptic seizure. Methods A review and summary on the features of 6 juvenile cases of Wilson′ s disease whose first symptom was epileptic seizure was made.All the cases had obvious symptom of epileptic seizure,but pathogeny was found out only after the patients had had careful physical check,case history interrogation,biochemical and imaging examinations,etc. Results Six cases whose first symptom was epileptic seizure were diagnosed as Wilson′s disease. The disease was controlled well with a 1～3 year follow-up and using anticupritic and antiepileptic medicines. Conclusion Wilson′s disease with epileptic seizure as its first symptom belongs to the rare cases,however the physician must be aware that the first visiting juvenile patients with epileptic symptom might have something in Wilson′s disease.