文章摘要
赵静，温宏峰，金迪，王培福，杨旭.表现不典型延误诊治的肝豆状核变性3例分析并 文献复习[J].神经损伤功能重建,2018,13(12):618-621
表现不典型延误诊治的肝豆状核变性3例分析并 文献复习
Analysis of Hepatolenticular Degeneration with Atypical Manifestation and Delayed Diagno⁃sis: 3 Cases Report and Literature Review
  
DOI：
中文关键词: 肝豆状核变性  不典型  血清铜蓝蛋白  预后
英文关键词: hepatolenticular degeneration  atypical manifestation  serum ceruloplasmin  prognosis
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作者单位
赵静，温宏峰，金迪，王培福，杨旭 航天中心医院神经内科 
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中文摘要:
      目的：探讨肝豆状核变性患者的临床、辅助检查特点、治疗和预后。方法：回顾3 例肝豆状核变性患 者的临床资料，分析其延误诊治的原因。并结合文献进行回顾性分析。结果：3 例均中年隐匿起病，缓慢进 行性加重。临床症状例1 表现为体重增加，智能减退，逐渐出现言语不能及肢体无力；例2 表现为进行性球 麻痹；例3 表现为肢体震颤，后期出现言语不清，随病情发展，均出现广泛皮质、锥体束及锥体外系损害表 现。常规检查2 例肉眼可见双侧角膜K-F环，1 例裂隙灯下可见；均存在临床下肝脏损害，1 例出现多项凝血 功能异常；血清铜蓝蛋白均明显降低；头MRI出现双侧脑干、基底核较为对称的多发异常信号，均为T1WI低 信号，FLAIR、T2WI高信号改变。经低铜饮食及驱铜治疗后临床症状明显改善。搜索既往报道的肝豆状核 变性患者662 例，归纳总结8 种首发表现及4 大临床症状，并对误诊原因进行分析概括。结论：肝豆状核变 性多中青年隐袭起病，缓慢进行性加重，临床出现神经多系统损害表现，头颅MRI以脑干、基底核区对称异 常信号为突出改变，应进一步检查角膜K-F环、腹部超声及血清铜蓝蛋白，早期诊疗临床预后较好。
英文摘要:
      To explore the clinical, examination characteristics, treatment and prognosis of hepatolenticular degeneration patients with atypical manifestation. Methods: Three cases of hepatolenticular degeneration were reported and the relevant literature were reviewed. Results: All three patients were concealed from middle age and worsened progressively and slowly. The neurological manifestations were different from each other. Case 1 presented with weight gain, cognitive impairment, dysarthria and limb weakness gradually. Case 2 showed progressive dysarthria. Case 3 presented with tremor and dysarthria. All the three patients presented with widespread cortical, pyramidal tract and extrapyramidal impairment with the development of the disease. The Kayser-Fleischer rings were detected in all of the patients, which had been discovered by slit-lamp in one patient. All of them had the hepatic impairment and low ceruloplasmin concentrations compared to the normal range (＜ 0.8 g/L). A patient showed abnormal coagulation function obviously. MRI abnormalities were multiple and bilateral symmetry, presented in basal ganglia and brainstem. The T1 weighted image revealed hypointensities and the T2/FLAIR weighted image also showed hyperintensities. The clinical symptoms of all the patients were significantly improved by low copper diet and penicillium and zinc sulfate.We collected data of 662 cases of hepatolenticular degeneration from the MEDLINE. Eight initial manifestations and four major clinical symptoms were summarized. And the causes of misdiagnosis were analyzed. Conclusion: Hepatolenticular degeneration progressive insidiously and slowly. Neuro-multisystem damage was common. Symmetrical abnormal signal was often found in brainstem and basal ganglia in MRI. To further clarify the diagnosis, Kayser-Fleischer rings, abdominal ultrasound and serum ceruloplasmin should be examined. Patients who received early diagnosis and treatment have a good clinical prognosis.
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