Porlas Romeo V, de Castillo Lennie Lynn C, Dioquino Carissa Paz C
Department of Neurosciences, College of Medicine and Philippine General Hospital, University of the Philippines, Manila.
Department of Neurosciences, College of Medicine and Philippine General Hospital, University of the Philippines, Manila; National Poison Management and Control Center, Philippine General Hospital, University of the Philippines, Manila, Philippines.
Dialogues Clin Neurosci. 2018 Dec;20(4):341-345. doi: 10.31887/DCNS.2018.20.4/rporlas.
Wilson disease is a rare genetic disease causing pathologic deposition of copper in the liver, brain, cornea, kidney, and cardiac muscles. Presented are two cases of neurologic Wilson disease with progressive movement disorder and Kayser-Fleischer rings with low serum copper, low ceruloplasmin, and increased 24-hour urine copper against a background of normal transaminases. Cranial imaging revealed symmetric basal ganglia hyperintensities in T2/FLAIR. More often than not, these cases go unnoticed and misdiagnosed because of its rarity and varied presentation. Extensive workup is necessary to confirm the diagnosis. As for management, the earlier the intervention is initiated, the better prognosis would be for recovery. There are several treatment options which should be tailored to every patient with neurologic Wilson disease. Neurologic Wilson disease is considered as a copper toxicity; immediate diagnostic evaluation and early treatment initiation is a must.
威尔逊病是一种罕见的遗传性疾病，可导致铜在肝脏、大脑、角膜、肾脏和心肌中病理性沉积。本文介绍了两例神经型威尔逊病病例，患者有进行性运动障碍和凯-弗环，血清铜降低、铜蓝蛋白降低，24小时尿铜增加，而转氨酶正常。头颅影像学检查显示T2/液体衰减反转恢复序列（FLAIR）上基底节区对称性高信号。由于该病罕见且表现多样，这些病例常常未被注意到并被误诊。需要进行全面检查以确诊。至于治疗，干预开始得越早，恢复的预后就越好。有几种治疗方案，应针对每例神经型威尔逊病患者进行个体化调整。神经型威尔逊病被认为是一种铜中毒；必须立即进行诊断评估并尽早开始治疗。
