以中脑受累为主的肝豆状核变性的诊疗分析

Diagnosis any analusis of HLD mainly affected by mindbrain

目的探讨肝豆状核变性的临床表现、影像学特点及治疗方案。方法对收治的1例肝豆状核变性患者的临床表现、辅助检查及诊断和治疗进行分析,讨论其特征。结果患者35岁女性,以四肢不自主抖动,声音颤抖为主要临床表现,头颅磁共振以中脑受累为主,有肝损伤、脾大、门静脉高压,结合锥体外系症状,查角膜K-F环阳性,血铜蓝蛋白降低,确诊肝豆状核变性,给予驱铜治疗后好转。结论肝豆状核变性是一个可累及多系统的疾病,临床表现复杂,极易漏诊和误诊,一旦确诊,早期治疗可改善患者的预后。

Objective To explore the clinical features,imaging manifestations and treatment method of patients with HLD.Methods One patients with HLD was reported.Her presentation,laboratory results,diagnosis and treatment were discussed.Results The 35-year-old female presented with involuntary limb shaking and voice trembling as the main clinical manifestations.The cranial magnetic resonance imaging(MRI)was mainly affected by the midbrain,with hepatic injury,splenomegaly and portal hypertension.Combined with extrapyramidal symptoms,the patient was tested positive for the cornea k-f ring,and the serum ceruloplasmin was decreased,Wilson’s disease was diagnosed and condition improved after copper displacement treatment was given.Conclusion Wilson’s disease is a multisystem disease with complex clinical manifestations and is prone to missed diagnosis and misdiagnosis.Once diagnosed,early treatment can improve the prognosis of patients.