Neurological Wilson disease in children: a three years experience from Multan.

OBJECTIVE To describe the neurological manifestations, results of investigations and response to treatment in Wilson disease in children from Multan. METHODS This cross sectional study was conducted at Neurology Department of Children Hospital and Institute of Child Health Multan from June 2005 to May 2008. Fifty children were included in this study. Age at onset of symptoms, sex, duration of symptoms, presenting complaints, consanguinity among parents, family history and response to treatment was noted. Chi square test was used to measure relationship between variables and response to treatment. P value of less than 0.05 was taken as significant. RESULTS Of the 50 cases studied, 48 were index cases and two were diagnosed on screening. Male female ratio was 2.1:1. Mean age at onset of symptoms was 9.06 +/- 2.65 years. Dystonia, dysarthria and cognitive decline was seen in 92%, drooling in 68%, tremors in 52%, chorea in 24% and seizures in 12% of children. Kayser Fleischer rings and elevated 24 hours urinary copper after penicillamine challenge, 1567 +/- 167.35 microg/day was present in all 50 children. Twenty two (44%) children showed early response, 24 (48%) late response and 4 (8%) children showed no response after one year of treatment. Late, greater than 10 years of age at onset of symptoms, less than 6 months duration of symptoms and urinary copper excretion of less than 1000 microg/day were found statistically significant factors for early response to treatment. CONCLUSION In the study population, dystonia, dysarthria and cognitive decline were the commonest presentations. Twenty four hour urinary copper was found helpful for diagnosis. Penicillamine was found to be an effective drug for treatment as overall response was noted in 92% of children.