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Pyloric stenosis and direct hyperbilirubinemia with alpha-1-antitrypsin deficiency
Insights
Infants with pyloric stenosis often have unconjugated hyperbilirubinemia. This case highlights a rare association with conjugated hyperbilirubinemia due to alpha-1-antitrypsin deficiency, requiring further investigation.
Area of Science:
- Neonatal Medicine
- Pediatric Gastroenterology
- Medical Genetics
Background:
- Pyloric stenosis commonly presents with unconjugated hyperbilirubinemia in infants.
- Conjugated hyperbilirubinemia in neonates necessitates a thorough etiological investigation.
Observation:
- A case of pyloric stenosis presenting with projectile vomiting was observed.
- The infant exhibited conjugated hyperbilirubinemia, which is atypical for pyloric stenosis alone.
Findings:
- The conjugated hyperbilirubinemia was diagnosed as alpha-1-antitrypsin deficiency, specifically the PiZZ phenotype.
- This represents the first reported instance of concurrent pyloric stenosis and alpha-1-antitrypsin deficiency-related conjugated hyperbilirubinemia.
Implications:
- Infants with pyloric stenosis and conjugated hyperbilirubinemia require comprehensive evaluation for diverse underlying causes.
- Consideration of metabolic disorders like alpha-1-antitrypsin deficiency is crucial in such presentations.
- Early diagnosis and management of associated conditions can improve infant outcomes.
Abstract:
The occurrence of unconjugated hyperbilirubinemia in infants with pyloric stenosis is common. We report an infant who presented with projectile vomiting secondary to pyloric stenosis. In addition, he had conjugated hyperbilirubinemia which proved to be due to alpha-1-antitrypsin deficiency of PiZZ phenotype. This is the first case report of such an association. Infants with pyloric stenosis and conjugated hyperbilirubinemia should be investigated for underlying infectious, metabolic causes or anatomical defects of the biliary tree.