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Extrahepatic biliary atresia associated with trisomy 18
1Department of Pediatric Surgery, Kumamoto University School of Medicine, Honjo 1-1-1, Kumamoto 860, Japan.
Pediatric Surgery International
|March 18, 1999
Summary
Extrahepatic biliary atresia (EBA) in an infant was initially suspected to be Alagille syndrome but was diagnosed as EBA with trisomy 18. This highlights the importance of chromosomal analysis in infants with jaundice and congenital anomalies.
Area of Science:
- Pediatric Gastroenterology
- Clinical Genetics
- Medical Diagnostics
Background:
- Extrahepatic biliary atresia (EBA) is a rare neonatal liver disease causing obstructive jaundice.
- Alagille syndrome is a genetic disorder that can present with similar symptoms, including jaundice and cardiac defects.
- Trisomy 18 (Edwards syndrome) is a genetic disorder associated with multiple congenital anomalies.
Observation:
- A 1-month-old male infant presented with obstructive jaundice, a heart murmur, growth retardation, and dysmorphic facial features suggestive of Alagille syndrome.
- Surgical exploration and subsequent chromosomal analysis revealed the infant had EBA associated with trisomy 18.
Findings:
- The case demonstrates a rare association between EBA and trisomy 18.
- Initial clinical presentation mimicked Alagille syndrome, underscoring diagnostic challenges.
Implications:
- Chromosomal examination is crucial for neonates presenting with jaundice and congenital anomalies.
- The findings suggest a potential link between chromosomal abnormalities in trisomy 18 and the development of EBA.
- This case emphasizes the need for comprehensive genetic evaluation in complex pediatric liver diseases.