Hedera Peter, Fink John K, Bockenstedt Paula L, Brewer George J
Department of Neurology, University of Michigan, Ann Arbor, USA.
Arch Neurol. 2003 Sep;60(9):1303-6. doi: 10.1001/archneur.60.9.1303.
To describe a patient with idiopathic zinc overload without an identifiable source and secondary copper deficiency causing myelopolyneuropathy and pancytopenia.
Case report.
A 46-year-old man presented with severe bone marrow suppression and subsequently developed progressive myelopathy with sensory ataxia. No identifiable cause of myelopathy was detected, and his neuroimaging findings were unremarkable. Plasma analysis demonstrated a low copper level and an increased zinc level (<10 micro g/dL [<12.6-18.9 micro mol/L] and 184 micro g/dL [28.2 micro mol/L], respectively; normal range for both, 80-120 micro g/dL [12.6-18.9 micro mol/L and 12.3-18.4 micro mol/L, respectively) and a low level of ceruloplasmin. There was no evidence for an external source of zinc. Daily oral supplementation with 2 mg resulted in the prompt reversal of hematologic abnormalities, improved but still subnormal plasma copper levels, and normalization of ceruloplasmin values. The patient's neurologic condition deteriorated further, with worsening of myelopathy and development of polyneuropathy. Analyses of plasma copper and zinc levels demonstrated persisting hyperzincemia and subnormal copper levels during 4 years of follow-up. Increased copper supplementation to 8 mg/d partially reversed his neurologic signs. A clinical investigation of 6 siblings and 1 surviving parent did not identify family members with similar abnormalities.
Persistent hyperzincemia without an identifiable external source appears to be a primary metabolic defect, while copper deficiency is a secondary phenomenon, causing hematologic and neurologic abnormalities. Two unrelated patients with similar idiopathic hyperzincemia and hypocupremia have been recently described. This suggests the existence of a new metabolic disorder with idiopathic zinc overload.
描述一例特发性锌过载且无明确来源、继发铜缺乏导致脊髓多神经病和全血细胞减少的患者。
病例报告。
一名46岁男性出现严重骨髓抑制，随后发展为进行性脊髓病伴感觉性共济失调。未检测到脊髓病的明确病因，其神经影像学检查结果无明显异常。血浆分析显示铜水平低、锌水平升高（分别为<10μg/dL [<12.6 - 18.9μmol/L]和184μg/dL [28.2μmol/L]；两者正常范围均为80 - 120μg/dL [分别为12.6 - 18.9μmol/L和12.3 - 18.4μmol/L]）以及铜蓝蛋白水平低。没有证据表明锌有外部来源。每日口服2mg补充剂后，血液学异常迅速逆转，血浆铜水平有所改善但仍低于正常，铜蓝蛋白值恢复正常。患者的神经状况进一步恶化，脊髓病加重并出现多神经病。在4年的随访中，血浆铜和锌水平分析显示持续高锌血症和铜水平低于正常。将铜补充剂增加至8mg/d可部分逆转其神经体征。对6名兄弟姐妹和1名在世父母的临床调查未发现有类似异常的家庭成员。
无明确外部来源的持续高锌血症似乎是一种原发性代谢缺陷，而铜缺乏是继发现象，可导致血液学和神经学异常。最近描述了两名患有类似特发性高锌血症和低铜血症的无关患者。这表明存在一种新的特发性锌过载代谢紊乱疾病。
