Infant with biliary atresia: a case report

Background: In children, biliary atresia (BA) is the most frequent cause of liver transplantation. Cholestasis, an early sign of biliary atresia, is rarely identified by primary care physicians as it is often mistaken for physiological jaundice. Early detection of biliary atresia is necessary to optimize outcomes and prevent end-stage liver disease. Case Presentation: A 2-month-old baby girl presented to the hospital with complaints of persistent jaundice since birth, accompanied by pale-colored stools. Physical examination revealed sclera icteric, hepatomegaly, splenomegaly, and umbilical hernia were found. Laboratory results showed a direct bilirubin level of 5.98 mg/dL, total bilirubin 7.22 mg/dL, albumin 3.31 g/dL, ALP 223 U/L, GGT 360.4 U/L, AST 307 U/L, ALT 313 U/L, APTT 34.2 seconds, and PT 12.4 seconds, Toxoplasma IgG 3.3 (reactive), CMV IgG 90.4 (reactive), and CMV IgM 3.09 (reactive). Thyroid function tests showed FT4 level of 360.4 ng/dL and TSH 307 µIU/mL suggesting congenital hypothyroidism. A 2-phase abdominal ultrasound examination showed impaired gallbladder contractility. Liver biopsy showed extrahepatic cholestasis and fibrosis of the portal tract (F1 stage). Contrast-enhanced MRCP was performed and showed biliary atresia with hepatosplenomegaly. The patient was diagnosed with biliary atresia, CMV infection, and congenital hypothyroidism. The patient was referred to pediatric surgery for Kasai portoenterostomy (KPE) surgery. Conclusion: The diagnosis of biliary atresia requires a combination of several laboratory modalities as well as radiologic and histopathologic studies. Early detection of cholestasis is necessary; if the infant is found to be jaundice at 2 weeks of age, serum bilirubin levels must be evaluated to avoid delays in BA management