威尔逊病的非典型表现:在一个罕见的病例中解开临床和放射学复杂性
Keta Vagha1, Sham Lohiya1, Jayant D Vagha1
1Pediatrics, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Wardha, IND.
Cureus
|March 27, 2024
概括
威尔逊病 (WD) 是一种导致铜积聚的遗传性疾病. 这份病例报告详细介绍了一个8岁女孩的不寻常情况,强调了早期诊断的必要性.
科学领域:
- 遗传学和新陈代谢
- 儿科医学 儿科医学
- 神经学 神经学
背景情况:
- 威尔逊病是一种自体逆性遗传疾病,影响铜代谢.
- 铜在肝脏和大脑等器官中的积累会导致严重的健康问题.
- 典型的表现包括儿童的肝脏症状和青少年的神经精神症状.
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