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Hepatolenticular degeneration (Wilson's disease) is a rare condition characterised by a defect in biliary excretion of copper resulting in excessive copper accumulation and toxicity. To the most frequent symptoms of this disorder belong liver, neurological or psychiatric disturbances, although other less common clinical features may sometimes be present. Since the clinical presentation of the d...
Andrew S. Kayser,1,2,3 Daicia C. Allen,1,2 Ana Navarro-Cebrian,1,2 Jennifer M. Mitchell,1,2 and Howard L. Fields1,2 1Department of Neurology, University of California, San Francisco, San Francisco, California 94143, 2Ernest Gallo Clinic and Research Center, Emeryville, California 94608, and 3Department of Neurology, Veterans Affairs Northern California Health Care System, Martinez, California 9...
we present a 19-year-old patient with hematologic and neurologic manifestations associated with wilson’s disease. idiopathic thrombocytopenia was diagnosed in october 2009. bone marrow aspiration was normal. gradually her neurologic and psychiatric symptoms emerged, dysarthria, writing apraxia, learning difficulties, emotionalism and eventually dystonia of hands. the serum ceruloplasmin was low...
A 19-year-old man presented with a 3-month history of excessive grinning. Examination revealed unrestrained grinning and mild symmetric parkinsonism. Wilson disease was suspected and confirmed by the presence of Kayser-Fleischer ring (figure), suggestive brain MRI (figure), low ceruloplasmin, and high urinary copper levels. Wilson disease is a disorder of copper metabolism characterized by hepa...
Jens Neumann ([email protected]) Gian Kayser ([email protected]) Thorsten Wiech ([email protected]) Konrad Aumann ([email protected]) Bernward Passlick ([email protected]) Paul Fisch ([email protected]) Martin Werner ([email protected]) Friedrich Feuerhake (friedrich.feue...
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