Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P50583 (asymmetrical)
 12,197 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Wilson disease (WD) that manifests solely with acute and severe neurological damage in the absence of hepatic disease and Kayser-Fleischer ring of the cornea is rare and difficult to diagnose at the acute setting. This report describes unusual diffusion and proton spectroscopic magnetic resonance (MR) imaging findings in a 12-year-old boy with WD who presented with hemichorea and subnormal copper metabolism. The MR imaging findings of lactate accumulation, decrease of N-acerylaspartate/creatinine (NAA/Cr) ratio and markedly increased apparent diffusion coefficient (ADC) value of the asymmetrical edematous putaminal lesions in the early stage were suggestive of acute necrosis with anaerobic metabolism of glucose leading to poor clinical outcome at follow-up.
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PMID:Acute putaminal necrosis and white matter demyelination in a child with subnormal copper metabolism in Wilson disease: MR imaging and spectroscopic findings. 1590 72

Although liver transplant for decompensated cirrhosis secondary to Wilson disease is well accepted, the use of transplant for patients with severe neurologic manifestations of this condition remains controversial, and these can be perceived as a contraindication. Here, we describe a 45-year-old woman who presented with an incidental hepatocellular carcinoma at the time of transplant. The patient had severe neurologic manifestations of Wilson disease pretransplant, including dysarthria, hyperreflexia, asymmetrical ataxia, tremor, bradyphrenia, and shuffling gait. She underwent successful transplant from a hepatic and surgical standpoint, but her postoperative course was marked by protracted mutism, hypophonia, and fluctuating akinesia and immobility that did not respond promptly to withdrawal of calcineurin inhibitors or pramipexole but did respond robustly to amantadine. At 9 months posttransplant, there was marked neurologic improvement, and, at 18 months, she exhibited subtle memory and organizational difficulties but was fully ambulatory and otherwise completely functional. Our experience suggests that even patients with severe neurologic Wilson disease may recover after transplant, albeit slowly, demonstrating the need for a multidisciplinary approach, including pre- and posttransplant neurologic and neuropsychiatric consultations.
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PMID:Liver Transplant Can Resolve Severe Neuropsychiatric Manifestations of Wilson Disease: A Case Report. 2791 67