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Wilson's disease in childhood. Variability of clinical presentation
Insights
Wilson's Disease, a treatable condition, is often diagnosed late in children with liver disease. Early identification of symptoms like jaundice and lethargy is crucial for timely intervention and improved outcomes.
Area of Science:
- Pediatric Hepatology
- Rare Genetic Disorders
Background:
- Wilson's Disease is a genetic disorder of copper metabolism.
- Delayed diagnosis of Wilson's Disease can lead to severe liver damage and mortality.
- Effective treatments exist, but early detection remains a challenge.
Purpose of the Study:
- To review cases of Wilson's Disease presenting with undiagnosed liver disease.
- To identify clinical features indicative of earlier diagnosis.
- To improve management strategies for Wilson's Disease.
Main Methods:
- Retrospective review of 15 pediatric cases referred with undiagnosed liver disease.
- Analysis of presenting symptoms, clinical signs, and laboratory findings.
- Comparison of features between fatal and surviving cases.
Main Results:
- 9 out of 15 patients died within weeks of admission.
- Fatal cases frequently presented with jaundice, ascites, and significantly abnormal liver function tests.
- Hemolysis was observed in both fatal and surviving groups, indicating its potential diagnostic relevance.
Conclusions:
- Wilson's Disease should be considered in children with unexplained liver disease, hemolytic anemia, or non-specific symptoms like lethargy and school performance decline.
- Prompt diagnostic evaluation is essential for children presenting with severe liver disease and ascites.
- Earlier recognition of Wilson's Disease can significantly improve patient survival rates.
Abstract:
Although Wilson's Disease is a treatable disorder, 9 of 15 cases referred with undiagnosed liver disease in the present series died in 3 to 53 days of admission. We have reviewed these cases to identify features that would allow earlier diagnosis and improvement in management. The presenting symptoms were lethargy and malaise (11 cases), jaundice (11), abdominal pain (9), and deteriorating school performance (4). At diagnosis, all fatal cases had jaundice and ascites, while only one of the 6 survivors had ascites and two had jaundice. Evidence of hemolysis was found in 3 fatal cases and 5 survivors. Serum bilirubin concentrations, aspartate transaminase, and prolongation of prothrombin time were significantly more abnormal in the fatal cases (p less than 0.01) as compared with the survivors. Cirrhosis was present in all fatal cases and in 2 of the 6 survivors. Wilson's Disease must be excluded in children presenting with frank liver disease as well as those with hemolytic anemia, persisting lethargy, abdominal pain, or deteriorating school performance.