Published: 2019-05-29

Wilson’s disease: a rare rapidly progressive presentation with atypical imaging finding

Arshad Yahya, Robina Shamim


Wilson’s disease is an autosomal recessive inborn error of copper metabolism characterized by inability of the liver to excrete copper into the bile, with excessive deposition of copper primarily in the liver and in the brain. To report a very rare acute presentation with rapidly progressive disease with some atypical imaging finding. Wilson’s disease was diagnosed on the basis of typical clinical picture, laboratory biochemical analysis and typical imaging finding. Apart from typical findings there were some atypical and rare findings which is the purpose of reporting these are a) very rare acute presentation and very rapid progression. b) Atypical Cerebral cortical enhancing lesion in both magnetic resonance imaging and computerized tomography scan with hyperintensity in diffusion weighted imaging in the corresponding areas. Aggressive presentation might be due to rapid accumulation of copper in the brain leading to cytotoxic edema in the accumulated area.


Brain, Copper, Liver, MRI, Wilson’s disease

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Taly AB, Prashanth LK, Sinha S. Wilson’s disease: An Indian perspective. Neurol India. 2009;57(5):528-40.

Huster D. Wilson’s disease. Best Pract Res Cl Ga. 2010;24(5):531-9.

Coffey AJ, Durkie M, Hague S, McLay K, Emmerson J, Lo C, et al. A genetic study of Wilson’s disease in the United Kingdom. Brain. 2013;136(5):1476-87.

Bull PC, Thomas GR, Rommens JM, Forbes JR, Cox DW. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat Genet. 1993;5:327-37.

Petrukhin K, Fischer SG, Pirastu M, Tanzi RE, Chernov I, Devoto M, et al. Mapping, cloning and genetic characterization of the region containing the Wilson disease gene. Nature Genetics. 1993;5(4):338-43.

Stremmel W, Meyerrose KW, Niederau C, Hefter H, Kreuzpaintner G, Strohmeyer G, et al. Wilson disease: clinical presentation, treatment, and survival. Annal Internal Med. 1991;115(9):720-6.

Gitlin JD. Wilson disease. Gastroenterol. 2003;125:1868-7.

Roberts EA, Schilsky ML. A practice guideline on Wilson disease. Hepatol. 2003;37:1475-92.

Merle U, Schaefer M, Ferenci P, Stremmel W. Clinical presentation, diagnosis and long-term outcome of Wilson’s disease: a cohort study. Gut. 2007;56(1):115-20.