Pediatric Biliary Atresia Clinical Presentation

Updated: Feb 02, 2021
  • Author: Steven M Schwarz, MD, FAAP, FACN, AGAF; Chief Editor: Carmen Cuffari, MD  more...
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Regardless of etiology, the clinical presentation of neonatal cholestasis is remarkably similar in most infants. Typical symptoms include variable degrees of jaundice, dark urine, and light stools. [14]

In the case of biliary atresia, most infants are full-term, although a higher incidence of low birthweight may be observed.

In most cases, acholic stools are not noted at birth but develop over the first few weeks of life. Appetite, growth, and weight gain may be normal.


Physical Examination

Physical findings do not identify all cases of biliary atresia. No findings are pathognomonic for the disorder. Infants with biliary atresia are typically full term and may manifest normal growth and weight gain during the first few weeks of life.

Hepatomegaly may be present early, and the liver is often firm or hard to palpation. Splenomegaly is common, and an enlarging spleen suggests progressive cirrhosis with portal hypertension.

Direct hyperbilirubinemia is always an abnormal finding and it is typically present from birth in the fetal/embryonic form. Consider biliary atresia in all neonates with direct hyperbilirubinemia.

In the more common postnatal form, physiologic jaundice frequently merges into conjugated hyperbilirubinemia. The clinician must be aware that physiologic unconjugated hyperbilirubinemia rarely persists beyond 2 weeks. Infants with prolonged physiologic jaundice must be evaluated for other causes.

Harpavat et al reported that screening newborns with direct or conjugated bilirubin measurements detected all known cases of biliary atresia in their study population of 124,385 infants. In addition, after screening was instituted, the mean age at which infants underwent Kasai portoenterostomy was significantly younger (36 days vs 56 days before routine screening). [15]

In patients with the fetal/neonatal form (polysplenia/asplenia syndrome), a midline liver may be palpated in the epigastrium. The presence of cardiac murmurs suggests associated cardiac anomalies.

A high index of suspicion is key to making a diagnosis because surgical treatment by age 2 months has clearly been shown to improve the likelihood of establishing bile flow and to prevent the development of irreversible biliary cirrhosis.