Syndromic variants of biliary atresia

Area of Science:

• Pediatric Gastroenterology
• Medical Genetics
• Neonatology

Background:

• Biliary atresia (BA) is an obliterative cholangiopathy affecting newborns, causing jaundice, pale stools, and dark urine.
• BA is typically considered an isolated anomaly in otherwise healthy infants.
• However, a subset of infants presents with additional congenital anomalies, some forming defined syndromes.

Purpose of the Study:

• To review the association of biliary atresia with other congenital anomalies and syndromes.
• To highlight the biliary atresia splenic malformation syndrome and its characteristic extrahepatic anomalies.
• To discuss other known and potential syndromic associations with biliary atresia.

Main Methods:

• Literature review of biliary atresia and associated anomalies.
• Analysis of reported cases of syndromic biliary atresia.
• Synthesis of current understanding regarding genetic and non-random associations.

Main Results:

• The biliary atresia splenic malformation syndrome occurs in approximately 10% of cases in European and North American series.
• This syndrome includes anomalies such as situs inversus, polysplenia, absent inferior vena cava, and preduodenal portal vein.
• Other syndromes with established or potential links to BA include Cat-Eye syndrome, Kabuki syndrome, and Zimmerman-Laband syndrome.

Conclusions:

• Biliary atresia can present as part of complex syndromic presentations, not solely as an isolated condition.
• Recognition of these associations is crucial for comprehensive diagnosis and management.
• The genetic basis for most syndromic forms of biliary atresia remains largely unknown.