Wilson's disease: cranial MRI observations and clinical correlation

Neuroradiology. 2006 Sep;48(9):613-21. doi: 10.1007/s00234-006-0101-4. Epub 2006 Jun 3.


Introduction: Study of MRI changes may be useful in diagnosis, prognosis and better understanding of the pathophysiology of Wilson's disease (WD). We aimed to describe and correlate the MRI abnormalities of the brain with clinical features in WD.

Methods: MRI evaluation was carried out in 100 patients (57 males, 43 females; mean age 19.3+/-8.9 years) using standard protocols. All but 18 patients were on de-coppering agents. Their history, clinical manifestations and scores for severity of disease were noted.

Results: The mean duration of illness and treatment were 8.3+/-10.8 years and 7.5+/-7.1 years respectively. MRI of the brain was abnormal in all the 93 symptomatic patients. The most conspicuous observations were atrophy of the cerebrum (70%), brainstem (66%) and cerebellum (52%). Signal abnormalities were also noted: putamen (72%), caudate (61%), thalami (58%), midbrain (49%), pons (20%), cerebral white matter (25%), cortex (9%), medulla (12%) and cerebellum (10%). The characteristic T2-W globus pallidal hypointensity (34%), "Face of giant panda" sign (12%), T1-W striatal hyperintensity (6%), central pontine myelinosis (7%), and bright claustral sign (4%) were also detected. MRI changes correlated with disease severity scores (P<0.001) but did not correlate with the duration of illness.

Conclusion: MRI changes were universal but diverse and involved almost all the structures of the brain in symptomatic patients. A fair correlation between MRI observations and various clinical features provides an explanation for the protean manifestations of the disease.

MeSH terms

  • Adolescent
  • Adult
  • Atrophy
  • Brain / pathology*
  • Child
  • Female
  • Hepatolenticular Degeneration / pathology*
  • Humans
  • Magnetic Resonance Imaging*
  • Male