Multiple congenital anomalies: A suspected case of alagille syndrome variant in a Nigerian child

Abstract

Congenital cardiac malformations co-existing with gastrointestinal anomalies have been fairly well reported.The authors report autopsy findings in a Nigerian child estimated to be about 3 months old who was born with imperforate anus, rectovaginal fistula, splenopancreatic fusion anomaly, biliary cirrhosis with cholestasis, truncus arteriosus, and ventricular septal defect. To our knowledge, this combination of defects is not common and has not been observed in literature.This case highlights the need to thoroughly investigate a child with gastrointestinal malformations in view of the possible association with multiple cardiac and other system anomalies.

Keywords

• Imperforate anus
• Rectovaginal fistula
• Truncus arteriosus
• Splenopancreatic fusion
• Biliary cirrhosis
• Cholestasis