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• W4253190276 abstract "Gábor Firneisz and colleagues1Firneisz G Woller J Ferenci P Szalay F Postmortem diagnosis from an electric shaver.Lancet. 2001; 358: 34Summary Full Text Full Text PDF PubMed Scopus (3) Google Scholar describe a way to diagnose Wilson's disease with DNA analysis. However, I would like to add a few comments. The investigators, I think, emphasise the genetic and necropsy diagnosis of Wilson's disease as opposed to the clinical diagnosis, which could be misleading to readers. They describe a man aged 42 years who died because of undiagnosed and untreated Wilson's disease. He had tremor and other involuntary movements consistent with an extrapyramidal disease for at least 10 years before death. On presentation to his family physician, with parkinsonian symptoms, the patient had florid manifestations of cirrhosis of liver. Few disorders cause hepatolenticular degeneration. Wilson's disease is unlikely to be confused because no other disease is characterised by tremor and rigidity developing at a young age with cirrhosis of liver and Kayser-Fleischer (KF) ring.2Bannister SR Extrapyramidal syndromes.in: Bannister SR Brain's clinical neurology. 5th edn. Oxford University Press, Oxford1979: 288-302Google Scholar No laboratory test is definitive in Wilson's disease.3Evans OB Parker CC Haas RK Naidu S Moser HW Bock HO Inborn errors of metabolism of the nervous system.in: Bradley WG Daroff RB Fenichel GM Marsden CD Neurology in clinical practice. Butterworth Heinemann, Woburn, MA, USA2000: 1595-1664Google Scholar In any young patient, the combination of unexplained movement disorder and cirrhosis of liver should alert the clinician to test for Wilson's disease. Appropriate anticopper therapy for this disorder is the critical element in halting progression of the disease.4Brewer GJ Wilson's disease.Curr Treat Options Neurol. 2000; 2: 193-204Crossref PubMed Google Scholar Such treatment can reverse most if not all the symptoms and signs, including the KF ring.5Gahl WA Wilson disease.in: Goldman L Bennett JC Cecil text book of medicine. WB Saunders, Philadelphia2000: 1130-1132Google Scholar Although I acknowledge Firneisz and colleagues' diagnosis of Wilson's disease several years after death, I believe that early diagnosis of Wilson's disease in living patients merits more importance in day to day clinical practice. They conclude by noting that late diagnosis or misdiagnosis of Wilson's disease occurs in everyday practice. I am afraid this blanket statement may convey a wrong message. Since KF ring is present in 100% of patients with central nervous system manifestations of Wilson's disease,3Evans OB Parker CC Haas RK Naidu S Moser HW Bock HO Inborn errors of metabolism of the nervous system.in: Bradley WG Daroff RB Fenichel GM Marsden CD Neurology in clinical practice. Butterworth Heinemann, Woburn, MA, USA2000: 1595-1664Google Scholar neuro-ophthalmological slitlamp assessment is mandatory and costeffective in all patients suspected to have this disorder. Naked-eye assessment, especially in the early stages, frequently does not detect or exclude KF rings. Symptom-free carriers, in whom KF rings are generally absent, will benefit from biochemical and molecular testing for Wilson's disease and prophylactic treatment if the disease is diagnosed. More than 200 known genetic mutations cause Wilson's disease, which makes molecular diagnosis difficult.5Gahl WA Wilson disease.in: Goldman L Bennett JC Cecil text book of medicine. WB Saunders, Philadelphia2000: 1130-1132Google Scholar In addition, molecular testing could be unavailable or economically non-viable and exhaustive in less-developed countries. Early detection and uninterrupted treatment through life, however, improves the outcome.3Evans OB Parker CC Haas RK Naidu S Moser HW Bock HO Inborn errors of metabolism of the nervous system.in: Bradley WG Daroff RB Fenichel GM Marsden CD Neurology in clinical practice. Butterworth Heinemann, Woburn, MA, USA2000: 1595-1664Google Scholar" @default.
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• W4253190276 date "2001-11-01" @default.
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• W4253190276 title "Postcremation diagnosis" @default.
• W4253190276 doi "https://doi.org/10.1016/s0140-6736(01)06610-7" @default.
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