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Images in Neurology
March 2016

Cortical Cystic Necrosis in Wilson Disease

Author Affiliations
  • 1Department of Neurology, Jaslok Hospital and Research Centre, Mumbai, India
  • 2Department of Radiology, Jaslok Hospital and Research Centre, Mumbai, India
  • 3Department of Gastroenterology, Jaslok Hospital and Research Centre, Mumbai, India
JAMA Neurol. 2016;73(3):350-351. doi:10.1001/jamaneurol.2015.3595

Wilson disease is an autosomal recessive neurodegenerative disease secondary to abnormal copper metabolism. It is caused by mutations in ATB7B and up to 500 mutations are known to date. Magnetic resonance imaging changes are very common in Wilson disease predominantly affecting the subcortical structures and basal ganglia. Cortical involvement is known to occur pathologically; however, it is rarely demonstrated on magnetic resonance imaging. This case shows unusual extensive cortical cystic lesions with partial poor response to decupuration and seizures.

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