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Neurological Wilson disease in children: a three years experience from Multan
Nuzhat Noureen1, Muhammad Tariq Rana
1Department of Paediatrics, Nishtar Hospital, Multan, Pakistan.
Insights
Wilson disease in children often presents with neurological symptoms like dystonia and dysarthria. Penicillamine treatment shows a 92% overall response rate, with early diagnosis and urinary copper levels aiding treatment effectiveness.
Area of Science:
- Neurology
- Pediatrics
- Medical Genetics
Background:
- Wilson disease is a rare autosomal recessive genetic disorder characterized by excessive copper accumulation in the body.
- Neurological and psychiatric symptoms are common, particularly in pediatric populations, necessitating early diagnosis and management.
- Understanding the specific manifestations and treatment responses in children is crucial for improving patient outcomes.
Purpose of the Study:
- To delineate the spectrum of neurological presentations in pediatric Wilson disease patients.
- To evaluate the diagnostic utility of investigations, including urinary copper levels.
- To assess the efficacy and response patterns to penicillamine treatment in children with Wilson disease.
Main Methods:
- A cross-sectional study involving 50 children diagnosed with Wilson disease was conducted over three years.
- Data collected included age at onset, sex, symptoms, family history, and response to penicillamine treatment.
- Statistical analysis, including the Chi-square test, was employed to identify factors influencing treatment response.
Main Results:
- The most frequent neurological manifestations were dystonia, dysarthria, and cognitive decline (92%).
- All patients exhibited Kayser Fleischer rings and elevated 24-hour urinary copper levels.
- A significant overall treatment response to penicillamine was observed in 92% of children, with factors like age at onset and symptom duration influencing response speed.
Conclusions:
- Neurological symptoms such as dystonia, dysarthria, and cognitive decline are the predominant clinical features of Wilson disease in children.
- Elevated 24-hour urinary copper levels are a valuable diagnostic marker.
- Penicillamine is an effective therapeutic agent for pediatric Wilson disease, with a high overall response rate.
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.
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