威尔逊病与精神症状:一个病例报告
Nguyen Van Tuan1,2, Tran Nguyen Ngoc3,4, Nguyen Thuy Hang1,2
1Department of Psychiatry, Hanoi Medical University, Hanoi Medical University, No. 1 Ton That Tung Str., Hanoi, 100000, Vietnam.
Journal of medical case reports
|September 30, 2025
概括
威尔逊病是一种铜代谢障碍,可以出现微妙的精神症状,使早期诊断复杂化. 这一案例凸显了在没有典型症状的情况下识别威尔逊病的挑战,强调了先进诊断的必要性.
科学领域:
- 医学遗传学 医学遗传学
- 神经学 神经学
- 代谢障碍 代谢障碍 代谢障碍
背景情况:
- 威尔逊病是一种铜代谢的遗传性疾病,导致有毒物质的积累.
- 典型的症状包括肝脏和神经系统问题,但精神表现可能是主要的.
- 威尔逊病 (WD) 的延迟诊断显著影响预后.
研究的目的:
- 介绍一例由于异常精神病症状而迟诊断的威尔逊病例.
- 为了强调非经典的WD演示所带来的诊断挑战.
- 强调在精神病患者中考虑WD的重要性.
主要方法:
- 20岁的男性患有威尔逊病的病例报告.
- 通过DNA测序证实了诊断.
- 详细分析了在WD典型症状之前的精神表现.
主要成果:
- 患者仅表现出精神症状,包括情绪波动,愤怒和睡眠障碍.
- 缺少肝脏特征或神经症状延迟诊断.
- 通过DNA测序的诊断揭示了晚期的威尔逊病并发症.
结论:
- 威尔逊病的诊断是复杂的,特别是非典型的表现.
- 早期发现和干预对于改善患者的治疗结果至关重要.
- 在临床症状含糊不清时,基因检测对于诊断威尔逊病至关重要.
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