Copper deficiency myelopathy produces a clinical picture like subacute combined degeneration
Copper deficiency myelopathy produces a clinical picture like subacute combined degeneration
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DOI：
10.1212/01.wnl.0000132644.52613.fa
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发表时间：
2004-07-13
期刊：
影响因子：
9.9
通讯作者：
Ahlskog, JE
中科院分区：
文献类型：
--
作者：
Kumar, N;Gross, JB;Ahlskog, JE
背景：反刍动物铜缺乏可引起共济失调性脊髓病。铜缺乏作为成人进行性脊髓病的一个原因还未被充分认识。目的：描述13例与铜缺乏相关的脊髓病患者的临床、生化、电生理和影像学特征。方法：回顾性分析铜缺乏相关性脊髓病患者的病历。总结了临床特征、实验室检查和对治疗干预的反应。结果：共发现13例此类患者，其中11例发生在15个月内。所有患者均表现出明显的步态困难，反映了由于背柱功能障碍和下肢痉挛引起的感觉性共济失调。所有患者均有多发性神经病。高或高正常血清锌水平被认为是在7/11例患者的这一信息。在8例患者中进行的体感诱发电位研究显示中枢本体感受通路传导受损。3例患者脊柱MRI显示背柱信号改变。诊断的最初线索是非常低的铜蓝蛋白水平;进一步的铜代谢试验排除了威尔逊病。大多数患者的病因仍无法解释。口服铜补充恢复正常或接近正常的铜水平在12例患者中，其中有足够的随访数据;胃肠外补充恢复正常水平的3名患者。补充铜可防止神经功能进一步恶化，但实际改善的程度是可变的。结论：不明原因的铜缺乏似乎是成人特发性脊髓病的常见原因。临床表现与维生素B-12缺乏相关的亚急性联合变性综合征有惊人的相似之处。早期识别和铜补充可以防止神经功能恶化。
Background: Copper deficiency in ruminants is known to cause an ataxic myelopathy. Copper deficiency as a cause of progressive myelopathy in adults is underrecognized. Objective: To describe the clinical, biochemical, electrophysiologic, and imaging characteristics in 13 patients with myelopathy associated with copper deficiency. Methods: The records of patients with a copper deficiency-associated myelopathy were reviewed. Clinical characteristics, laboratory investigations, and responses to therapeutic intervention were summarized. Results: Thirteen such patients were found, 11 of them in a 15-month period. All patients presented with prominent gait difficulty, reflecting a sensory ataxia due to dorsal column dysfunction and lower limb spasticity. All patients had polyneuropathy. A high or high-normal serum zinc level was seen in 7 of the 11 patients for whom this information was available. Somatosensory evoked potential studies done in eight patients showed impaired conduction in central proprioceptive pathways. Dorsal column signal change on spine MRI was present in three patients. An initial clue to the diagnosis was a very low ceruloplasmin level; further tests of copper metabolism excluded Wilson disease. The cause remained unexplained in most patients. Oral copper supplementation restored normal or near-normal copper levels in 7 of the 12 patients in whom adequate follow-up data were available; parenteral supplementation restored normal level in 3 further patients. Copper supplementation prevented further neurologic deterioration, but the degree of actual improvement was variable. Conclusions: Unrecognized copper deficiency appears to be a common cause of idiopathic myelopathy in adults. The clinical picture bears striking similarities to the syndrome of subacute combined degeneration associated with vitamin B-12 deficiency. Early recognition and copper supplementation may prevent neurologic deterioration.