Mukherjee Soumava, Solanki Bhavesh, Guha Goutam, Saha Shankar Prasad
Department of Neurology, Nil Ratan Sircar Medical College and Hospital, Kolkata, West Bengal, India.
J Neurosci Rural Pract. 2016 Jul-Sep;7(3):447-9. doi: 10.4103/0976-3147.176195.
Wilson's disease is a metabolic disorder which presents with hepatitis or hepatic decompensation commonly. Neurologic manifestations are late and include movement disorders, personality changes, and seizures. Magnetic resonance imaging (MRI) brain shows high signal changes in putamen, lentiform nucleus, thalamus, and brainstem. White matter lesions are rare. We report a child of Wilson's disease who presented to us with dystonia, rigidity, myoclonus and had symmetrical white matter changes in the fronto-parietooccipital region. Diffusion restriction in bilateral frontoparietal areas was also seen which is rare in chronic cases like ours. Atypical MRI characteristics should be considered in patients with clinical signs of neurological involvement in Wilson's disease as it is a devastating but treatable disease.
威尔逊病是一种代谢紊乱疾病，通常表现为肝炎或肝失代偿。神经系统表现出现较晚，包括运动障碍、人格改变和癫痫发作。脑部磁共振成像（MRI）显示壳核、豆状核、丘脑和脑干有高信号变化。白质病变罕见。我们报告了一名威尔逊病患儿，其表现为肌张力障碍、僵硬、肌阵挛，额顶枕区有对称性白质改变。双侧额顶叶区域也可见弥散受限，这在我们这类慢性病例中较为罕见。对于有威尔逊病神经系统受累临床体征的患者，应考虑非典型MRI特征，因为它是一种严重但可治疗的疾病。
