PDF(Pubmed)
Abstract：
BACKGROUND: Wilson disease is a rare genetic disorder primarily associated with hepatic symptoms; however, its unique neurological presentation remains a subject of interest in the medical literature. This case report contributes to existing knowledge by highlighting the unusual manifestation of Wilson disease with significant neurological symptoms.
METHODS: The patient, pseudonym John Smith, presented with prominent neurological symptoms, including tremors, dystonia, and psychiatric manifestations. Clinical findings corroborated copper accumulation in the brain, prompting a thorough diagnostic investigation.
METHODS: Genetic analysis revealed two ATP7B mutations, confirming the primary diagnosis of Wilson disease. This case underscores the importance of recognizing atypical neurological presentations in the context of this rare genetic disorder.
METHODS: Chelation therapy, initiated promptly upon diagnosis, targeted copper overload. The intervention led to notable improvements in neurological symptoms and psychiatric manifestations. The dosage and duration of treatment were adjusted based on regular monitoring.
RESULTS: Regular follow-up revealed a positive trajectory, with reduced tremors and improved overall well-being. Genetic testing, coupled with clinical assessments, contributed to monitoring treatment efficacy and optimizing therapeutic interventions.
CONCLUSIONS: The main takeaway lessons from this case include the significance of a comprehensive diagnostic approach, personalized therapeutic interventions, and the imperative to acknowledge the diverse clinical spectrum of Wilson disease. Early recognition and tailored treatment contribute to favorable outcomes in cases with atypical neurological presentations.
METHODS: The patient, pseudonym John Smith, presented with prominent neurological symptoms, including tremors, dystonia, and psychiatric manifestations. Clinical findings corroborated copper accumulation in the brain, prompting a thorough diagnostic investigation.
METHODS: Genetic analysis revealed two ATP7B mutations, confirming the primary diagnosis of Wilson disease. This case underscores the importance of recognizing atypical neurological presentations in the context of this rare genetic disorder.
METHODS: Chelation therapy, initiated promptly upon diagnosis, targeted copper overload. The intervention led to notable improvements in neurological symptoms and psychiatric manifestations. The dosage and duration of treatment were adjusted based on regular monitoring.
RESULTS: Regular follow-up revealed a positive trajectory, with reduced tremors and improved overall well-being. Genetic testing, coupled with clinical assessments, contributed to monitoring treatment efficacy and optimizing therapeutic interventions.
CONCLUSIONS: The main takeaway lessons from this case include the significance of a comprehensive diagnostic approach, personalized therapeutic interventions, and the imperative to acknowledge the diverse clinical spectrum of Wilson disease. Early recognition and tailored treatment contribute to favorable outcomes in cases with atypical neurological presentations.
摘要：
背景：威尔逊病是一种罕见的遗传性疾病，主要与肝脏症状有关；然而，其独特的神经表现仍然是医学文献中感兴趣的主题。此病例报告通过突出显示具有明显神经系统症状的Wilson病的异常表现，为现有知识做出了贡献。
方法：患者，化名约翰·史密斯,表现出突出的神经症状，包括震颤,肌张力障碍,和精神病表现。临床发现证实了铜在大脑中的积累，促使进行彻底的诊断调查。
方法：遗传分析显示两个ATP7B突变，确认威尔逊病的主要诊断。此病例强调了在这种罕见的遗传疾病的背景下识别非典型神经系统表现的重要性。
方法：螯合疗法，在诊断后立即启动，有针对性的铜过载。干预导致神经症状和精神表现的显着改善。在定期监测的基础上调整治疗剂量和持续时间。
结果：定期随访显示出积极的轨迹，减少震颤和改善整体福祉。基因检测,再加上临床评估，有助于监测治疗效果和优化治疗干预措施。
结论：此案例的主要教训包括全面诊断方法的重要性，个性化的治疗干预措施，以及承认威尔逊病不同临床谱的必要性。在非典型神经系统表现的病例中，早期识别和量身定制的治疗有助于取得良好的结果。
方法：患者，化名约翰·史密斯,表现出突出的神经症状，包括震颤,肌张力障碍,和精神病表现。临床发现证实了铜在大脑中的积累，促使进行彻底的诊断调查。
方法：遗传分析显示两个ATP7B突变，确认威尔逊病的主要诊断。此病例强调了在这种罕见的遗传疾病的背景下识别非典型神经系统表现的重要性。
方法：螯合疗法，在诊断后立即启动，有针对性的铜过载。干预导致神经症状和精神表现的显着改善。在定期监测的基础上调整治疗剂量和持续时间。
结果：定期随访显示出积极的轨迹，减少震颤和改善整体福祉。基因检测,再加上临床评估，有助于监测治疗效果和优化治疗干预措施。
结论：此案例的主要教训包括全面诊断方法的重要性，个性化的治疗干预措施，以及承认威尔逊病不同临床谱的必要性。在非典型神经系统表现的病例中，早期识别和量身定制的治疗有助于取得良好的结果。
