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

Abstract

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.

Osmotic demyelination syndrome diagnosed radiologically during Wilson’s disease investigation

“…Zhong et al . [3] recently published a study of brain MRI characteristics in 76 cases of WD reporting findings in agreement with those of our case regarding neurological presentation, most common injury sites (75% of Zhong’s cases had involvement of the lenticular nucleus, 30.9% of the pons, and 29.4% of the thalamus) and changes in signal intensity on brain MRI (T2 and FLAIR hyperintensities without diffusion restriction in the affected areas).…”

Wilson disease in children and adolescents

“…The latter typically include changes in the deep grey matter (putamen, caudate and thalamic nuclei) and the mescencephalic and pontine white matter, as well as atrophy (not reported in children with WD) (figure 3). 25–28…”

Pathogenetic Aspects of Brain Lesions in Wilson–Konovalov Disease

“…Атрофическим изменениям подвергается не только скорлупа, но и хвостатое ядро, таламус, варолиев мост и средний мозг. Кроме того, атрофические изменения выявляют в бледном шаре, миндалине и черном веществе, а в гиппокампе и мозжечке их не обнаруживают [33,34]. В наиболее тяжелых случаях в скорлупе обнаруживают некротические изменения, при этом некротическую полость окружают нагруженные железом макрофаги [26].…”