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Case Report | Radiology and Medical Imaging Sciences | Volume 15 Issue 7, July 2026 | Pages: 922 - 925 | India
When Copper Leaves Its Footprints: Characteristic MRI Patterns in Wilson Disease - A Case Report and Literature Review
Abstract: Background: Wilson disease (hepatolenticular degeneration) is an autosomal recessive disorder of copper metabolism caused by mutation of the ATP7B gene, resulting in pathological copper accumulation in the liver, brain, cornea and other organs. Its estimated prevalence is approximately 1 in 30,000 individuals. Neurological manifestations, chiefly involving the basal ganglia, produce a wide spectrum of movement and psychiatric disorders, and the variable clinical presentation frequently mimics other conditions, leading to delayed diagnosis. Case Presentation: We report the case of a 15-year-old male who presented with poor scholastic performance, dysarthria, involuntary hand movements, abnormal gait, depression and episodic aggression, with a family history of a similarly affected elder sibling who died undiagnosed. Examination revealed a characteristic clown-like facies with risus sardonicus, and slit-lamp examination confirmed bilateral Kayser?Fleischer rings. Serum ceruloplasmin was markedly reduced (
Keywords: Wilson disease, hepatolenticular degeneration, basal ganglia, Kayser?Fleischer ring, diffusion-weighted imaging, magnetic resonance imaging, ATP7B
How to Cite?: Dr. Neharika Japsare, Dr. Neel Raithatha, Dr. Kanishkakumar Ravankolkar, "When Copper Leaves Its Footprints: Characteristic MRI Patterns in Wilson Disease - A Case Report and Literature Review", Volume 15 Issue 7, July 2026, International Journal of Science and Research (IJSR), Pages: 922-925, https://www.ijsr.net/getabstract.php?paperid=SR26711165142, DOI: https://dx.doi.org/10.21275/SR26711165142