A Case Series of Atypical Neuroimaging Phenotypes in Wilson’s Disease
Wilson’s disease (WD) is an inherited disorder of copper metabolism that leads to excessive copper deposition, predominantly involving the hepatic and neural parenchyma. The clinical presentation may vary from being completely asymptomatic to hepatic cirrhosis with or without frank extrapyramidal sy...
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| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2025-05-01
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| Series: | Journal of Marine Medical Society |
| Subjects: | |
| Online Access: | https://journals.lww.com/10.4103/jmms.jmms_70_24 |
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| Summary: | Wilson’s disease (WD) is an inherited disorder of copper metabolism that leads to excessive copper deposition, predominantly involving the hepatic and neural parenchyma. The clinical presentation may vary from being completely asymptomatic to hepatic cirrhosis with or without frank extrapyramidal symptoms. Neuroimaging plays a crucial role in diagnosis and follow-up among these patients. The myriad neuroimaging features in WD depend on the chronicity of the disease and are also associated with the extent of hepatolenticular degeneration. Here, we present various atypical imaging phenotypes encountered in a cohort of 13 patients with the expected clinical presentation. All of them are proven cases of WD either based on genetic/ceruloplasmin levels. Asymmetry of the bilateral hyperintensities, involvement of the parahippocampal gyri, lingual gyri, insular necrosis, preferential affliction of the thalamus, and brainstem sparing the neostriatum were some of the observed atypical neuroimaging phenotypes which are hitherto undescribed to the best of our knowledge. Timely recognition of the atypical imaging findings and apt clinical correlation results in effective and early management decisions. |
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| ISSN: | 0975-3605 2589-1235 |