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.
Diffuse bilateral white matter, cortical, and striatal (arrowhead) abnormalities, with cystic aspect (arrow) in frontal region (fluid-attenuated inversion recovery).
Footnotes
Author contributions: Dr. Trocello: design, conceptualization, drafting the manuscript. Dr. Woimant: design, conceptualization, drafting the manuscript. Dr. El Balkhi: interpretation of data, revising the manuscript. Dr. Guichard: interpretation of data, revising the manuscript. Dr. Poupon: interpretation of data, revising the manuscript. Dr. Chappuis: interpretation of data, revising the manuscript. Dr. Feillet: conceptualization and revising the manuscript.
Study funding: No targeted funding reported.
Disclosure: The authors report no disclosures relevant to the manuscript. Go to Neurology.org for full disclosures.
- © 2013 American Academy of Neurology
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