Nazer H, Brismar J, al-Kawi M Z, Gunasekaran T S, Jorulf K H
Department of Paediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Neuroradiology. 1993;35(2):130-3. doi: 10.1007/BF00593969.
Eight patients with Wilson's disease (WD) were studied by magnetic resonance imaging (MRI) of the brain; seven also underwent X-ray computed tomography (CT) of the brain. We describe the changes in the brain and try to correlate them with the clinical manifestations and progress of the disease. Six patients were symptomatic, with predominantly neurological problems. Two were asymptomatic, diagnosed upon screening siblings of index cases. Of the six symptomatic patients, five had basal ganglia lesions, combined in four with brain stem changes; in one with only brain stem abnormalities, clinical findings were minimal despite pronounced MRI changes. In three patients MRI abnormalities regressed following chelating therapy. MRI can contribute to documentation of early neurological involvement in WD, especially in patients with no abnormalities on CT. However, MRI changes may not correlate with clinical presentation or response to therapy.
对8例肝豆状核变性（WD）患者进行了脑部磁共振成像（MRI）研究；其中7例还接受了脑部X线计算机断层扫描（CT）。我们描述了脑部的变化，并试图将其与疾病的临床表现和进展相关联。6例患者有症状，主要是神经问题。2例无症状，在对索引病例的同胞进行筛查时被诊断出。在6例有症状的患者中，5例有基底节病变，其中4例合并脑干改变；1例仅有脑干异常，尽管MRI改变明显，但临床症状轻微。3例患者在螯合治疗后MRI异常消退。MRI有助于记录WD早期神经受累情况，尤其是CT无异常的患者。然而，MRI改变可能与临床表现或治疗反应无关。
