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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。
Objective To summarize the clinical features and treatment experience of Wilson’s disease with epilepsy as the first symptom. Methods The clinical features of 6 cases of Wilson’s disease with epilepsy as the first symptom were reviewed retrospectively. All the patients had obvious epilepsy. However, after detailed medical history, careful physical examination and related blood biochemistry, imaging and other auxiliary tests, epilepsy was found Etiology. Results The primary symptom in 6 patients with epilepsy was hepatolenticular degeneration. The patients were treated with copper flooding and antiepileptic treatment for 1 ~ 3 years. The symptoms were well controlled. Conclusions Hepatolenticular degeneration is the rare first symptom of epilepsy. Adolescents with epilepsy as the first diagnosis should be wary of the possible etiology of hepatolenticular degeneration.