Arun B. Taly|S. Meenakshisundaram|Sanjib Sinha|H. S. Swamy|G. R. Arunodaya
Wilson Disease
National Institute of Mental Health and Neurosciences|National Institute of Mental Health and Neurosciences|National Institute of Mental Health and Neurosciences|National Institute of Mental Health and Neurosciences|National Institute of Mental Health and Neurosciences
clinical manifestations wilson disease wd varied challenging conducted current study present phenotypic characteristics followup large cohort patients wd reviewed medical records 282 cases wd malefemale ratio 19686 clinical features investigations treatment outcome data clinical presentations follows hepatic 42 149 hepatoneurologic 10 35 neurologic 195 691 pure psychiatric 7 24 osseomuscular 6 21 presymptomatic 15 53 mean age 159 years presymptomatic patients hepatic form wd younger patients osseomuscular psychiatric forms older neurologic patients mean duration illness time diagnosis 28 months predominant neurologic features follows parkinsonism 623 dystonia 354 cerebellar 28 pyramidal signs 16 chorea 9 athetosis 22 myoclonus 34 behavioral abnormalities 16 kayserfleischer kf rings seen follows neurologic patients 100 hepatic patients 86 presymptomatic patients 59 positive family history noted 47 consanguinity 54 patients born consanguineous parents earlier age onset shorter duration illness presentation serum ceruloplasmin decreased 93 24hour urinary copper excretion increased 70 patients neuroimaging computed tomographymagnetic resonance imaging electrophysiologic abnormalities seen many patients overall 195 patients dpenicillamine therapy 182 zinc sulphate followup data available 225 patients mean duration 46 months revealed improvement 176 change 20 deterioration 6 twentythree patients died conclude despite increased awareness recognition significant inroads therapeutic frontiers followup remains poor developing countries return previous level functioning universal abbreviations ct computed tomography eeg electroencephalogram kf kayserfleischer mri magnetic resonance imaging nimhans national institute mental health neurosciences sgot serum glutamic oxaloacetic transaminase sgpt serum glutamic pyruvic transaminase wd wilson disease