Extensive striatal, cortical, and white matter brain MRI abnormalities in Wilson disease - Université de Lorraine Access content directly
Journal Articles Neurology Year : 2013

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.

Dates and versions

hal-01701927 , version 1 (06-02-2018)

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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, 2013, 81 (17), pp.1557 - 1557. ⟨10.1212/WNL.0b013e3182a95883⟩. ⟨hal-01701927⟩
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