The mother of a 1-month-old girl brought the baby to the clinic mistakenly thinking that she was scheduled for her first well-child visit. There was no appointment scheduled but her pediatrician agreed to see the child. The baby seemed to be healthy; she was feeding well on formula milk and was developmentally normal for her age.
The infant appeared alert and active. Her weight, length, and head circumference plotted at 50th percentile. She had mildly yellowish sclera but there was no other clinical evidence of jaundice. There was no hepatosplenomegaly noted and the remainder of the examination was normal. After the examination, the infant passed very pale stool while the mother was changing her diapers (Figure).
The mother said that the baby’s stools had been a yellowish color until about 2 weeks after birth when they started to turn pale. The mother had not noticed any change in the baby's skin and eye color since birth and couldn’t recall any other symptoms that had alarmed her. The baby’s urine was noted to be light yellow.
Liver enzymes and serum bilirubin levels were measured immediately. Results found AST, 221 IU/L (normal range, 15 to 60 IU/L); ALT, 124 IU/L (normal range, 13 to 45 IU/L); and ALP, 502 IU/L (normal range, 150 to 420 IU/L). The total bilirubin level was 8.2 mg/dL and direct bilirubin was 5.1 mg/dL.
The differential diagnosis at this stage was: biliary atresia, neonatal hepatitis, alagille syndrome, choledochal cyst, sclerosing cholangitis, tyrosinemia, cystic fibrosis.
1. What other lab tests would you order?
2. Would you consider imaging for this patient? If so, which one(s)?
3. What's your diagnosis?
Zallen GS, Bliss DW, Curran TJ, et al. Biliary atresia. PediatrRev. 2006;27:243-248.
Wadhwani SI, Turmelle YP, Nagy R, et al. Prolonged neonatal jaundice and the diagnosis of biliary atresia: a single-center analysis of trends in age at diagnosis and outcomes. Pediatrics. 2008;121:e1438-e1440.
Haber BA, Erlichman J. Biliary Atresia. Up-To-Date. Available at http://www.uptodate.com/contents/biliary-atresia. Accessed June 10, 2011.