EC Neurology

Wilson disease, or hepatolenticular degeneration, is a rare autosomal recessive disorder caused by mutations affecting copper transport, leading to copper accumulation primarily in the liver and basal ganglia. We report a case with typical neurological, hepatic, and ophthalmologic features, emphasizing the radiological hallmark signs and diagnostic approach. The discussion highlights key imaging findings, differential diagnoses, and current therapeutic strategies.

 Keywords: Wilson Disease; Hepatolenticular Degeneration; Giant Panda Sign

1. Chaudhry HS and Anilkumar AC. “Wilson Disease”. [Updated 2022 Aug 8]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing (2022).
2. Paprocka J., et al. “Neuroimaging of basal ganglia in neurometabolic diseases in children”. Brain Sciences 11 (2020): 849.
3. Van Cauter S., et al. “Bilateral lesions of the basal ganglia and thalami (central grey matter)-pictorial review”. Neuroradiology12 (2020): 1565-1605.