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Wilson's disease in childhood. A plea for increased awareness
Insights
Early diagnosis of Wilson
Area of Science:
- Pediatric Hepatology
- Metabolic Disorders
- Neurology
Background:
- Wilson's disease is a rare, inherited metabolic disorder affecting copper metabolism.
- It primarily impacts the liver and can lead to severe neurological and hepatic complications if untreated.
- Early diagnosis is crucial for effective treatment and improved patient outcomes.
Abstract:
Wilson's disease, a hepatic-based metabolic disease, is treatable with a relatively good prognosis if diagnosed before severe complications occur. It has been diagnosed in eight children (five boys, three girls) in 11 years at our institution. The presenting symptoms were hepatic in four children, neurological in one and non-specific in one, whereas two children were asymptomatic siblings of index patients. The mean age at diagnosis was 8.9 years (range, 4.7-11.7 years). Two boys died soon after diagnosis: one had fulminating hepatic failure and the other, who had neurological disease, died of aspiration pneumonia. Six children are well, with regression of clinical disease, two to 10 years after the initiation of chelation therapy by mouth. The diagnosis was delayed for all symptomatic patients because of the disease's rarity, its nonspecific early manifestations and a low index of suspicion for the disease on the part of physicians.