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Figure 1 Clinical picture of the index patient (Patient 1)

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1 Figure 1 Clinical picture of the index patient (Patient 1)
Figure 1 Clinical picture of the index patient (Patient 1). (A and B) Dermatological sign: pale skin with well-demarcated erythematous patches of variable size and shape, involving cheeks, eyelids, chin, the neck, the arm and the chest; ichtyosifom, hyperkeratotic plaques involve the extensor surface of left hand; lips are erythematous and oedematous. (C) Neuroradiological findings. Axial T<sub>2</sub>-weighted MRI scans: pretreatment, MRI shows mild T<sub>2</sub> hyperintensity of bilateral caudate (black arrows) and putamen (arrowheads), which appear mildly swollen and similar, but less pronounced than those observed in Wilson’s disease. From: MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy Brain. 2013;136(3): doi: /brain/awt012 Brain | © The Author (2013). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please 1

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