A study of brain MRI characteristics and clinical features in 76 cases of Wilson's disease

To explore the value of brain MRI in Wilson's disease (WD) in relating neurological symptoms with clinical manifestations of the disease, a retrospective analysis of 76 WD patients with neurological symptoms was performed. Patients' neurological symptoms, brain MRI features, and laboratory findings were noted. MRI was abnormal in 89.5% of patients. The lenticular nucleus was the most commonly lesioned site, being affected in 75% of patients, followed by the caudate nucleus (lesioned in 30.9% of patients), pons (30.9%), thalamus (29.4%), midbrain (20.6%), cerebral cortex and white matter (5.9% of patients in each case), and cerebellum and hippocampus (4.4% in each case). Brain atrophy was also relatively common, occurring in 31.6% of subjects. We also determined that the sensitivity of T2 was 89.7%, while that of T1 and FLAIR were both 76.5%. 23 patients were scanned without the benefit of contrast enhancement, and of the 8 patients who were scanned with DWI, 6 exhibited hypointensities, while 2 were normal. The 5 patients who underwent susceptibility-weighted imaging (SWI) all showed hypointensities. A longer disease duration appeared to be more prevalent when thalamic abnormalities were observed, and tremor seemed to be correlated with cerebral atrophy. Ataxia was correlated with brainstem, cerebellar, and cerebral cortex lesions. It was determined that the T2 sequence has a higher sensitivity compared to T1 and FLAIR in the detection of brain lesions. (C) 2018 The Authors. Published by Elsevier Ltd.