Late-onset Wilson's disease with neurological involvement in the absence of Kayser-Fleischer rings.
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.
D000367:Age Factors; D001284:Atrophy; D001706:Biopsy; D002531:Cerebellum / Q000000981:diagnostic imaging / Q000473:pathology; D002570:Ceruloplasmin / Q000032:analysis; D003300:Copper / Q000652:urine; D006527:Hepatolenticular Degeneration / Q000473:pathology*; D006801:Humans; D008099:Liver / Q000473:pathology; D008297:Male; D008875:Middle Aged; D014057:Tomography, X-Ray Computed
D003300:Copper; D002570:Ceruloplasmin