Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.
IRCCS Mondino Foundation, Via Mondino 2, 27100, Pavia, Italy.
Neurol Sci. 2024 Mar;45(3):987-996. doi: 10.1007/s10072-023-07126-8. Epub 2023 Oct 18.
The objective is to investigate the presentation, complications, management, and outcomes of copper deficiency-induced neurological pathologies due to Wilson disease (WD) overtreatment. We examined the case of a WD patient who developed a low thoracic dorsal myelopathy due to chronic hypocupremia from excessive zinc therapy. A comprehensive literature review was conducted to identify similar cases. Ten additional cases of neurological pathology resulting from copper deficiency in the context of WD over-treatment were identified, all occurring during therapy with zinc salts. Myelopathy and peripheral neuropathy were the most common complications, while two additional groups reported leukoencephalopathy. Early cytopenia was often associated with copper deficiency-related neurological pathology appearing early in the context of copper deficiency. WD patients undergoing treatment, especially with zinc salts, should be closely monitored to prevent over-treatment and the consequent copper deficiency. Regular complete blood counts could provide early detection of copper deficiency, avoiding irreversible neurological damage. Swift recognition of new neurological signs not consistent with WD and timely discontinuation of the decoppering therapy are critical for improving outcomes. The optimal management, including the potential benefit of copper supplementation in patients with WD and subsequent therapy adjustments, remains unclear and necessitates further investigation. Despite the general poor functional neurological outcomes, there were some exceptions that warrant further exploration.
目的在于研究由于 Wilson 病(WD)过度治疗而导致的铜缺乏引起的神经病理学的表现、并发症、处理方法和结果。我们研究了一位 WD 患者的病例,该患者因长期锌治疗导致低胸背部脊髓病继发慢性低铜血症。进行了全面的文献复习,以确定类似的病例。确定了 10 例由于 WD 过度治疗中铜缺乏引起的神经病理学的其他病例,所有这些病例均发生在用锌盐治疗期间。最常见的并发症是脊髓病和周围神经病,而另外两组报告了脑白质病。早期的细胞减少症通常与铜缺乏相关的神经病理学相关,且在铜缺乏的早期就会出现。正在接受治疗的 WD 患者,尤其是用锌盐治疗的患者,应密切监测以防止过度治疗和随后的铜缺乏。定期进行全血细胞计数可早期发现铜缺乏症,避免不可逆的神经损伤。迅速识别与 WD 不一致的新神经体征并及时停止驱铜治疗对于改善结果至关重要。最佳管理方法,包括 WD 患者铜补充的潜在益处以及随后的治疗调整,尚不清楚,需要进一步研究。尽管一般的神经功能结局较差,但也有一些例外情况需要进一步探讨。