威尔逊病的病例先前出现了类似精神分裂症的症状,前面占主导地位的白脑病变
Ryoji Miyano1, Akihiko Mitsutake1, Takashi Matsukawa1
1Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.
Internal medicine (Tokyo, Japan)
|December 11, 2024
概括
威尔逊病 (WD) 可以模仿精神分裂症,延迟诊断. 早期识别WD至关重要,特别是当帕金森症随着精神病症状出现时,以防止误诊并确保及时治疗.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 是一个遗传学.
- 内部医学 内部医学
背景情况:
- 威尔逊病 (WD) 是一种罕见的遗传疾病,其特征是铜积累.
- 神经和精神症状在WD中很常见,但可能被误诊.
- 延迟诊断WD可能会导致严重的,不可逆转的器官损伤.
研究的目的:
- 为了突出威尔逊病的诊断挑战呈现精神病症状.
- 强调在患有无法解释的神经和精神疾病症状的患者中考虑WD的重要性.
- 在错误诊断WD的情况下,审查临床,放射和遗传发现.
主要方法:
- 一个26岁的男性病例报告,对威尔逊病的晚期诊断.
- 对临床表现的审查,包括精神病症状和状态.
- 大脑MRI发现 (正面白内障,基底腺缩).
- 通过Kayser-Fleischer环,铜代谢测试和ATP7B基因分析进行诊断确认.
主要成果:
- 这位患者最初被误诊为精神分裂症11年.
- 大脑MRI显示了特征性的白细胞大脑病变和基底腺缩.
- 诊断通过临床症状,生物化学测试和遗传分析得到证实.
- 精神病症状先于明显的神经症状,模仿精神分裂症.
结论:
- 在对精神分裂症类精神病的差异诊断中应考虑威尔逊病,特别是当伴有神经症状时.
- 在WD中,Pyramid外症状可能会被误认为是药物诱导的帕金森症.
- 早期和准确的WD诊断对于有效的管理和预防并发症至关重要.
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