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Extensive striatal, cortical, and white matter brain MRI abnormalities in Wilson disease

Abstract : A 16-year-old boy presented with progressive dysarthria and gait and behavior disorders. The diagnosis of Wilson disease was made, based on Kayser-Fleischer rings, hypocupremia, hypoceruloplasminemia, and increased 24-hour urinary copper, and confirmed by molecular analysis (homozygous state, p.[Glu1382*]; [Glu1382*]). Brain MRI demonstrated diffuse bilateral cortical and subcortical abnormalities (figure). Chelator therapy (D-penicillamine) produced partial improvement, although the patient developed epileptic seizures, presumably due to the cortical involvement. Wilson disease with extensive cortical-subcortical lesions is rare,1,2 but should be considered as a possible etiology of diffuse leukoencephalopathy with cystic evolution.
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https://hal.univ-lorraine.fr/hal-01701927
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Submitted on : Tuesday, February 6, 2018 - 12:17:22 PM
Last modification on : Tuesday, October 13, 2020 - 10:46:32 AM

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Jean-Marc Trocello, France Woimant, Souleiman El Balkhi, Jean-Pierre Guichard, Joël Poupon, et al.. Extensive striatal, cortical, and white matter brain MRI abnormalities in Wilson disease. Neurology, American Academy of Neurology, 2013, 81 (17), pp.1557 - 1557. ⟨10.1212/WNL.0b013e3182a95883⟩. ⟨hal-01701927⟩

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