Mohammadzadeh Fatemeh, Fatemi Alireza, Yazdooei Yasmin, Norouzi Alireza
Metabolic Disorders Research Center, Golestan University of Medical Sciences, Gorgan, Golestan, Iran.
Cardiovascular Surgery Research and Development Committee, Iran University of Medical Sciences (IUMS), Tehran, Iran.
Clin Med Insights Endocrinol Diabetes. 2025 Sep 16;18:11795514251376459. doi: 10.1177/11795514251376459. eCollection 2025.
Wilson's disease (WD) is a rare genetic disorder that impairs copper metabolism, leading to its deposition in various organs, including the liver, brain, and cornea. Endocrine disorders, particularly hyperparathyroidism, are uncommon in WD. Methanol toxicity, a medical emergency, is rarely associated with WD and hyperparathyroidism, making this case particularly unique. We report a rare instance of this complex triad.
A 53-year-old male with untreated WD presented with nausea, vomiting, dizziness, and blurred vision after ingesting methanol. Clinical examination revealed optic neuropathy, consistent with methanol toxicity, despite normal fundoscopy. Laboratory investigations revealed significant hypercalcemia and elevated parathyroid hormone (PTH) levels, confirming hyperparathyroidism. Imaging, including a prior technetium-99m sestamibi scan, indicated hyperfunctioning parathyroid tissue. Dialysis was initiated for methanol toxicity, and metabolic acidosis was corrected.
This case emphasizes the rare coexistence of WD, hyperparathyroidism, and methanol toxicity, presenting significant diagnostic and therapeutic challenges. The pathophysiological interactions between these conditions are not well understood and warrant further research to improve management strategies and clinical outcomes.
威尔逊病(WD)是一种罕见的遗传性疾病,会损害铜代谢,导致铜在包括肝脏、大脑和角膜在内的各种器官中沉积。内分泌紊乱,尤其是甲状旁腺功能亢进,在WD中并不常见。甲醇中毒是一种医疗急症,很少与WD和甲状旁腺功能亢进相关,因此该病例尤为独特。我们报告了这一罕见的三联症病例。
一名53岁未接受治疗的WD男性在摄入甲醇后出现恶心、呕吐、头晕和视力模糊。临床检查发现视神经病变,与甲醇中毒相符,尽管眼底镜检查正常。实验室检查显示有明显的高钙血症和甲状旁腺激素(PTH)水平升高,证实为甲状旁腺功能亢进。包括之前的锝-99m甲氧基异丁基异腈扫描在内的影像学检查显示甲状旁腺组织功能亢进。因甲醇中毒开始进行透析,并纠正了代谢性酸中毒。
该病例强调了WD、甲状旁腺功能亢进和甲醇中毒罕见的共存情况,带来了重大的诊断和治疗挑战。这些病症之间的病理生理相互作用尚不清楚,需要进一步研究以改进管理策略和临床结果。