Clinical profile and outcome of Wilson disease in Indian children: A single centre study

Background: Wilson disease is an inherited disorder of copper metabolism characterised by cirrhosis of the liver, bilateral degeneration of basal ganglia and pigmented rings in the periphery of cornea. The clinical features vary considerably. Early diagnosis and prompt treatment favours good prognosis. Objectives: To study the clinical and biochemical features of children with Wilson disease and the outcome after therapy at one year follow up. Method: The study was carried out at a tertiary care centre in South India. From January 2001 to December 2017, 35 children were diagnosed with Wilson disease based on clinical findings along with two or more of the following criteria: low serum caeruloplasmin level, increased urinary copper concentration before or after penicillamine challenge and/or the presence of Kayser-Fleischer (KF) rings. Results: Presentation was hepatic in 18 (51.4%), neurological in 8 (22.9%), mixed hepatic and neurological in 3 (8.6%) and pre-symptomatic in 6 (17.1%). All 35 children had low serum caeruloplasmin (mean 9.29±5.37mg/dl) and elevated urinary copper (mean 172.8±118.8 μg/24hr). KF rings were seen in 16 (45.7%). The Ferenci score ranged from 3 to 8 (median 4). Zinc was started in 33 (94.3%) patients and penicillamine in 29 (82.9%) Three patients died within 2 months of diagnosis, all having hepatic presentation. About 32 children were followed up for a mean duration of 5.42 years. Among children with hepatic presentation 11 (61%) improved fully following treatment. Among children with neurologic onset 4 (50%) showed significant improvement, while the rest had persistent neurological deficits. Conclusions: In this study, presentation of Wilson disease was hepatic in 51.4%, neurologic in 22.8%, mixed hepatic and neurological in 8.6% and presymptomatic in 17.2%. Hepatic presentations had more mortality while neurological presentations had persistent abnormalities.