CASE 17437 Published on 08.10.2021

Atypical CNS imaging features of Wilson's disease

Section

Neuroradiology

Case Type

Clinical Cases

Authors

Aneree N. Shah, Shilpa Domkundwar, Sharad Malvadkar

Radiology Department, Sir JJ Hospital and Grant Medical College, Mumbai, India

Patient

20 years, male

Categories
Area of Interest Abdomen, Musculoskeletal system, Neuroradiology brain ; Imaging Technique CT, CT-Angiography
Clinical History

A 20-year-old male with the inability to speak, faecal and urinary incontinence since 3 weeks. Left hemiparesis 1 year back. Increase tone of left lower limb, ankle clonus and cerebellar signs. Bilateral Kayser-Fleischer rings present. 24 hours urinary copper levels: 132ug (elevated). Past h/o jaundice. CSF analysis was normal.

Imaging Findings

CECT Brain: Diffuse asymmetric white matter hypodensities in bilateral fronto-temporo-parietal lobes. No enhancing lesions.

MRI brain with contrast: Confluent T2/FLAIR hyperintensities in periventricular and subcortical white matter of bilateral fronto-temporo-parietal lobes and right cerebellar hemispheres, with sparing of bilateral occipital lobes. No diffusion restriction. Multiple scattered SWI hypointense foci, suggesting microbleeds. Few T2 hypointense lesions with peripheral enhancement within these abnormal white matter hyperintense areas. Mild hyperintensities are seen in bilateral ganglio-capsular (right>left) region. Multiple, tiny lacunar infarcts in bilateral basal ganglia, left thalamus and bilateral corona radiata. Focal leptomeningeal enhancement along bilateral frontal sulcal spaces. Brainstem normal. No abnormal spinal cord signal.

6 week follow up imaging: Complete resolution of ring-enhancing lesions in bilateral cerebral hemispheres. Significant resolution of T2/FLAIR hyperintensities in periventricular and subcortical white matter of bilateral fronto-temporo-parietal lobes, bilateral ganglio-capsular regions and right cerebellar hemispheres. Microbleeds and lacunar infarcts remained unchanged. Cerebral atrophy was seen.

Discussion

Wilson’s disease is an autosomal recessive disorder with abnormal ceruloplasmin metabolism leading to elevated total body and urinary copper levels. This excess gets deposited in the liver, midbrain and basal ganglia, cornea, articular cartilage.

Based on clinical presentation, urinary copper levels and KF rings, clinical diagnosis of Wilson's disease was made.

Imaging findings typical for Wilson’s disease include symmetric T2 hyperintensity in putamen, caudate nuclei, thalami and globus pallidi. Face of giant panda sign-Normal red nucleus against hyperintense tegmentum of midbrain. [1] Face of miniature panda- seen at pons level. Hypointense medial longitudinal fasciculi and central tegmental tracts in contrast with the aqueductal hyperintensity opening into the fourth ventricle. [2] Double panda sign – Combination of face of giant panda and miniature panda. However, this case failed to show any brainstem involvement.

Other findings included abnormal long T1 and T2 signals in bilateral basal ganglia (with or without brain stem impairment). The abnormal signal in the basal ganglia is due to glial cell hyperplasia, edema, necrosis, and lacunae caused by copper deposition. The medulla and occipital lobe were spared. [3]

Atypical findings include white matter abnormalities in the subcortical regions of frontal, parietal and temporal lobes manifesting as high signal intensity on T2W images. [4] On CT these appear as hypodense areas and MR imaging reveals decreased T1 signal and high signal on T2-weighted images. This imaging appearance is due to demyelination, softening, spongy degeneration and cavitation. [5,6]

With normal CSF analysis and no clinical suspicion for infective disease process, the ring-enhancing lesions were assumed secondary to superimposed demyelination process.

Patient was started on chelation therapy with penicillamine. No steroids were administered. Patient showed clinical improvement within 10 days from starting of treatment. Follow-up MRI imaging showed no ring-enhancing lesions, suggesting response to chelation.

This case was unusual as there was no brainstem involvement to suggest typical Wilson’s disease, however with abnormal basal ganglia and thalamus signal intensities, clinical and radiological improvement to chelation, imaging features atypical for Wilson’s disease with superimposed demyelination was suggested.

Written informed patient consent for publication has been obtained.

Differential Diagnosis List
Wilson’s disease with superimposed demyelination
CADASIL (Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy)
MELAS (Mitochondrial encephalomyopathy with lactic acidosis and stroke-like symptoms)
CNS vasculitis
Extensive demyelination – Multiple sclerosis
Case information
URL: https://www.eurorad.org/case/17437
DOI: 10.35100/eurorad/case.17437
ISSN: 1563-4086
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