Department of Neurology, Bethune International Peace Hospital, Shijiazhuang, Hebei, China.
Department of Gastroenterology, Bethune International Peace Hospital, Shijiazhuang, Hebei, China.
Medicine (Baltimore). 2024 Aug 16;103(33):e39380. doi: 10.1097/MD.0000000000039380.
Wilson's disease (WD) is a rare autosomal recessive disease that causes impaired copper circulation and excretion. The initial manifestations of WD vary clinically, which makes early diagnosis very difficult. Sleep disorders have been described as common symptoms of WD, but the initial manifestations are in rare cases.
This study aims to present a patient with acute insomnia as the initial manifestation of WD. Cranial magnetic resonance imaging showed extensive lesions in the bilateral putamen and caudate nucleus, pressure area of corpus callosum, midbrain, and pons. Interestingly, rare but characteristic signs of WD, such as "face of the giant panda," were shown in this case. WD diagnosis was further established by decreased ceruloplasmin level and ATP7B (adenosine-triphosphatase copper transporting beta polypeptide) gene mutations.
We describe acute insomnia as the initial manifestation of WD in a 21-year-old male patient. Timely diagnosis allows for early copper-eliminating pharmacotherapy, which is of high prognostic importance, as the patient may be more responsive to treatment at this point.
威尔逊病（WD）是一种罕见的常染色体隐性遗传病，导致铜循环和排泄受损。WD 的初始表现具有临床差异，这使得早期诊断非常困难。睡眠障碍已被描述为 WD 的常见症状，但初始表现较为罕见。
本研究旨在介绍一例以急性失眠为首发表现的 WD 患者。头颅磁共振成像显示双侧壳核和尾状核、胼胝体受压区、中脑和脑桥广泛受累。有趣的是，本例患者出现了 WD 罕见但特征性的征象，如“大熊猫脸”。WD 的诊断进一步通过铜蓝蛋白水平降低和 ATP7B（三磷酸腺苷酶铜转运β多肽）基因突变得到确立。
我们描述了一例 21 岁男性患者以急性失眠为 WD 的首发表现。及时诊断可进行早期排铜药物治疗，这具有重要的预后意义，因为此时患者对治疗的反应可能更好。
