Wilson disease, also known as hepatolenticular degeneration, is a multisystem disease due to abnormal accumulation of copper. It is characterized by early onset liver cirrhosis with CNS findings most frequently affecting the basal ganglia and midbrain.
This article aims to discuss the central nervous system manifestations of this condition. For a broad view on the condition, please refer to the main article on Wilson disease.
Common neurological clinical features include dysarthria, dystonia, tremor, parkinsonism, choreoathetosis, and ataxia and gait anomalies. Kayser-Fleischer rings are also seen in nearly all patients with neurological manifestations of Wilson disease 1.
Neuroimaging features of Wilson disease may vary depending on whether the disease is treated or untreated. The most frequently affected sites are the basal ganglia (especially putamen), followed by midbrain, pons, and thalamus 2,8. The distribution is bilateral and symmetric 4.
May demonstrate atrophic changes in the basal ganglia, cortical, and cerebellar regions 3:
- non-enhanced: copper deposition does not increase density on CT
- post-contrast: lesions do not enhance
Abnormal T2 hyperintensity in the putamina is the most common MRI abnormality 4,8. Additional areas of T2 signal abnormality predominantly affect the deep gray nuclei 5. Involvement of the midbrain tegmentum can appear as a face of the giant panda sign on axial images. Axial T2 MR at pons may also show the face of a miniature panda sign (cub of the giant panda). This combination is referred to as the double panda sign 6.
On T1-weighted images in patients presenting with neurologic manifestations, these areas show hypointensity. In contrast, patients with severe hepatic dysfunction show areas of T1 hyperintensity, especially in the globus pallidus, similar to that seen in acquired (non-Wilsonian) hepatocerebral degeneration attributed to manganese deposition 4.
Diffusion restriction may be seen early in the course of the disease 7.
- 1. Lorincz MT. Neurologic Wilson's disease. (2010) Annals of the New York Academy of Sciences. 1184: 173-87. doi:10.1111/j.1749-6632.2009.05109.x - Pubmed
- 2. King AD, Walshe JM, Kendall BE, Chinn RJ, Paley MN, Wilkinson ID, Halligan S, Hall-Craggs MA. Cranial MR imaging in Wilson's disease. (1996) AJR. American journal of roentgenology. 167 (6): 1579-84. doi:10.2214/ajr.167.6.8956601 - Pubmed
- 3. Kvícala V, Vymazal J, Nevsimalová S. Computed tomography of Wilson disease. (1983) AJNR. American journal of neuroradiology. 4 (3): 429-30. Pubmed
- 4. Kim TJ, Kim IO, Kim WS, Cheon JE, Moon SG, Kwon JW, Seo JK, Yeon KM. MR imaging of the brain in Wilson disease of childhood: findings before and after treatment with clinical correlation. (2006) AJNR. American journal of neuroradiology. 27 (6): 1373-8. Pubmed
- 5. Hegde AN, Mohan S, Lath N et-al. Differential diagnosis for bilateral abnormalities of the basal ganglia and thalamus. Radiographics. 2011;31 (1): 5-30. Radiographics (full text) - doi:10.1148/rg.311105041 - Pubmed citation
- 6. Jacobs DA, Markowitz CE, Liebeskind DS et-al. The "double panda sign" in Wilson's disease. Neurology. 2003;61 (7): 969. doi:10.1212/01.WNL.0000085871.98174.4E - Pubmed citation
- 7. Castillo M. Neuroradiology Companion: Methods, Guidelines, and Imaging Fundamentals. LWW. ISBN:1451111754. Read it at Google Books - Find it at Amazon
- 8. Yu XE, Gao S, Yang RM, Han YZ. MR Imaging of the Brain in Neurologic Wilson Disease. (2019) AJNR. American journal of neuroradiology. 40 (1): 178-183. doi:10.3174/ajnr.A5936 - Pubmed
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