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

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.