A 6-year-old boy with Wilson disease-A diagnostic dilemma

Area of Science:

• Pediatric Hepatology
• Medical Genetics
• Clinical Diagnostics

Background:

• Wilson disease (WD) is an autosomal recessive disorder of copper metabolism, often presenting with diverse clinical manifestations in children.
• Early diagnosis and treatment are crucial to prevent irreversible liver damage and neurological complications.
• Diagnostic challenges arise from atypical presentations that mimic other pediatric liver diseases like autoimmune hepatitis and Indian childhood cirrhosis.

Observation:

• A 6-year-old boy presented with progressive abdominal distension, jaundice, ascites, hepatosplenomegaly, and coagulopathy.
• Initial investigations, including viral markers, Kayser-Fleischer ring examination, serum ceruloplasmin, and urinary copper levels, were inconclusive.
• Liver biopsy revealed micronodular cirrhosis with Mallory hyaline and copper deposits, while serology showed positive anti-smooth muscle antibodies.

Findings:

• Despite features suggestive of Indian childhood cirrhosis and autoimmune hepatitis, genetic analysis identified a pathogenic p.R969Q mutation in the ATP7B gene.
• This genetic finding definitively confirmed the diagnosis of Wilson disease (WD).
• The case highlights the critical role of genetic testing in resolving diagnostic dilemmas in pediatric WD.

Implications:

• This case underscores the importance of considering Wilson disease in the differential diagnosis of pediatric liver failure, even with atypical clinical and biochemical profiles.
• Integrated diagnostic approaches combining clinical, biochemical, histological, and genetic evaluations are essential for accurate WD diagnosis in children.
• Improved diagnostic strategies can lead to earlier intervention, better patient outcomes, and reduced morbidity associated with Wilson disease.