Nimodia Devyansh, Parihar Pratapsingh, Gupta Roohi G, Dudhe Sakshi S, Desale Prasad, Gaur Shubhi
Radiodiagnosis, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Wardha, IND.
Cureus. 2024 Jul 23;16(7):e65203. doi: 10.7759/cureus.65203. eCollection 2024 Jul.
Wilson's disease is a rare genetic disorder characterized by abnormal copper metabolism due to mutations in the gene. This case report details the presentation of a 14-year-old male child exhibiting severe generalized dystonia, rigidity, myoclonic jerks, dysarthria, and excessive salivary drooling. During ophthalmic examination, Kayser-Fleischer rings were identified. Symmetrical hyperintensities in cortical and subcortical areas, including the basal ganglia and brainstem, were noted on brain magnetic resonance imaging (MRI). Additionally, diffusion restriction in the bilateral fronto-parietal region was observed. The diagnosis of Wilson's disease was confirmed through further diagnostic assessments, such as serum ceruloplasmin levels and urine copper excretion. Treatment was initiated with penicillamine, anticonvulsants, and supportive measures, resulting in partial recovery after a three-month follow-up period. This case emphasizes the significance of identifying atypical MRI brain findings in Wilson's disease, which aids in early diagnosis and appropriate management to prevent irreversible neurological damage.
威尔逊病是一种罕见的遗传性疾病，其特征是由于该基因的突变导致铜代谢异常。本病例报告详细介绍了一名14岁男童的临床表现，他出现了严重的全身性肌张力障碍、僵硬、肌阵挛性抽搐、构音障碍和唾液过多流涎。眼科检查时发现了凯泽-弗莱舍尔环。脑部磁共振成像（MRI）显示皮质和皮质下区域，包括基底神经节和脑干有对称的高信号。此外，双侧额顶叶区域观察到弥散受限。通过进一步的诊断评估，如血清铜蓝蛋白水平和尿铜排泄量，确诊为威尔逊病。开始使用青霉胺、抗惊厥药和支持性措施进行治疗，经过三个月的随访期后部分恢复。本病例强调了在威尔逊病中识别非典型脑部MRI表现的重要性，这有助于早期诊断和适当管理，以防止不可逆转的神经损伤。
