Wilson disease: description of 282 patients evaluated over 3 decades.
The clinical manifestations of Wilson disease (WD) are varied and challenging. We conducted the current study to present the phenotypic characteristics and follow-up for a large cohort of patients with WD. We reviewed the medical records of 282 cases of WD (male:female ratio, 196:86) for clinical features, investigations, treatment, and outcome data. The clinical presentations were as follows: hepatic, 42 (14.9%); hepato-neurologic, 10 (3.5%); neurologic, 195 (69.1%); pure psychiatric, 7 (2.4%); osseomuscular, 6 (2.1%); and "presymptomatic," 15 (5.3%). Mean age was 15.9 years. Presymptomatic patients and those with the hepatic form of WD were younger and patients with osseomuscular and psychiatric forms were older than neurologic patients. The mean duration of illness at the time of diagnosis was 28 months. Predominant neurologic features were as follows: parkinsonism, 62.3%; dystonia, 35.4%; cerebellar, 28%; pyramidal signs, 16%; chorea, 9%; athetosis, 2.2%; myoclonus, 3.4%; and behavioral abnormalities, 16%. Kayser-Fleischer (KF) rings were seen as follows: neurologic patients, 100%; hepatic patients, 86%; and presymptomatic patients, 59%. Positive family history was noted in 47% and consanguinity in 54%. Patients born of consanguineous parents had an earlier age of onset and shorter duration of illness before presentation. Serum ceruloplasmin was decreased in 93% and 24-hour urinary copper excretion was increased in 70% of patients. Neuroimaging (computed tomography/magnetic resonance imaging) and electrophysiologic abnormalities were seen in many patients. Overall, 195 patients were on D-penicillamine therapy and 182 on zinc sulphate. Follow-up data, available for 225 patients, for a mean duration of 46 months, revealed improvement in 176, no change in 20, and deterioration in 6. Twenty-three patients died. To conclude, despite increased awareness and recognition and significant inroads into therapeutic frontiers, follow-up remains poor in developing countries and a return to previous level of functioning is not universal.
Taly
Arun B
AB
From Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, Karnataka, India.
Meenakshi-Sundaram
S
S
Sinha
Sanjib
S
Swamy
H S
HS
Arunodaya
G R
GR
D000293:Adolescent; D000328:Adult; D001264:Athetosis / Q000209:etiology; D001921:Brain / Q000473:pathology; D002570:Ceruloplasmin / Q000032:analysis; D002614:Chelating Agents / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D002819:Chorea / Q000209:etiology; D015331:Cohort Studies; D003241:Consanguinity; D003300:Copper / Q000652:urine; D004421:Dystonia / Q000209:etiology; D004569:Electroencephalography; D005260:Female; D005500:Follow-Up Studies; D006527:Hepatolenticular Degeneration / Q000175:diagnosis / Q000453:epidemiology* / Q000628:therapy; D006801:Humans; D007194:India / Q000453:epidemiology; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009207:Myoclonus / Q000209:etiology; D017063:Outcome Assessment, Health Care; D020734:Parkinsonian Disorders / Q000209:etiology; D010396:Penicillamine / Q000627:therapeutic use; D019287:Zinc Sulfate / Q000627:therapeutic use
D002614:Chelating Agents; D019287:Zinc Sulfate; D003300:Copper; D002570:Ceruloplasmin; D010396:Penicillamine