Year: 2025
Type: article
Study design: Case Report
Abstract: BACKGROUND: Wilson's disease is a copper metabolic disorder defined by the body's accumulation of copper, which inhibits its excretion and initially manifests as liver and neurological symptoms. The patient reported herein showed only psychiatric symptoms and was diagnosed in the latter stages without typical Wilson's disease symptoms. The case underscores the complexity of diagnosing Wilson's disease, emphasizing the significant challenges regarding early detection and treatment efficacy. CASE PRESENTATION: We report the case of a 20-year-old Vietnamese male with Wilson's disease. The initial manifestations in the patient reported herein include psychiatric symptoms such as mood fluctuations, anger, irritation, impulsivity, emotional eruptions, weariness, and sleep disorders. The patient exhibited no symptoms of Wilson's disease as documented and was diagnosed solely via DNA sequencing, resulting in serious complications and an unfavorable prognosis. CONCLUSIONS: This case underscores the complexity of Wilson's disease symptoms. Early identification and effective therapy are crucial for enhancing patient outcomes.
Source: Journal of Medical Case Reports
Authors: Nguyen Van Tuan, Tran Nguyen Ngoc, Nguyen Thuy Hang, Tran My Ha
Institutions: Hanoi Medical University, Bạch Mai Hospital
Language: English
Topic: Trace Elements in Health
Subfield: Nutrition and Dietetics
Field: Nursing
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $2,890
OpenAlex ID: W4414629965