Annals of Neurology · 1985 · 82 citations · 6 references
MedicineNeurologyPathologyHepatologyHistopathologyNeuropathologyChronic Liver DiseaseCopper ToxicityLiver DiseaseNeurodegenerative DiseasesNeurodegenerative DisordersWilson DiseaseCopper Metabolism DisordersHepatic Copper MetabolismHepatic ManifestationsKayser-fleischer RingsNeurological Disease CasesSlit-lamp Examination FindingsWilson Disease Differential DiagnosisWilson Disease Pathophysiology
We report a patient with Wilson's disease whose case is unusual in two respects. First, the patient was 58 years of age when the diagnosis was made based on urinary, serum, and hepatic copper studies, as well as liver histological investigation. Second, despite the patient's neurological impairment, Kayser-Fleischer rings had not developed. We conclude that in patients with chronic, degenerative neurological disease, particularly when associated with hepatic dysfunction, the diagnosis of Wilson's disease should be considered regardless of age at onset or the absence of Kayser-Fleischer rings on slit lamp examination.
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RNM Macsween · Journal of Clinical Pathology · 1980 · 268 citations · Full text
Hepatology: A Textbook of Liver Disease
Bernard F. Smith · Archives of Internal Medicine · 1983 · 102 citations