Biliary atresia
Presentation:
A newborn baby, S.T., is born vaginally at 39 weeks gestation to a 35 year-old, healthy mother. The birth is uncomplicated, and the baby and mom are discharged after two days in the hospital. At her two-week appointment, S.T.’s primary care physician notices the baby has jaundiced skin and sclera. Upon further investigation, Mom reports the patient having progressively darker urine and acholic stools. Otherwise, S.T. appears healthy and happy, and is meeting all developmental milestones. She is in the 75th percentile for both height and weight, and has had no other health complications.
Differential diagnoses:
Cholestasis, Biliary atresia, Alagille syndrome, CMV infection, Cystic fibrosis
Diagnosis:
S.T.’s primary care physician ordered a series of lab tests, including a CBC, CMP, liver function tests, as well as a number of viral panels. All of the viral panels were negative, and the CBC was within normal limits. Her total bilirubin was elevated at 11.6 mg/dL, as was her direct bili at 6.9 ml/dL. Her GGT was also elevated, measuring 243 U/L. Although these lab values do indicate some sort of hepatic dysfunction and the elevated GGT suggests a problem specifically with the biliary system, a definitive diagnosis cannot be made based solely on lab results. S.T. was referred to a gastroenterologist, who ordered a sweat test to rule out CF, and a liver ultrasound to rule out other causes of jaundice, like a tumor or cyst in the liver. Finally, the results of a HIDA scan identified a complete obstruction of bile flow in the common duct. Based on these results, a diagnosis of biliary atresia is suspected.
Treatment:
Biliary atresia always requires surgical intervention. Surgery gives the medical team an opportunity to visualize the biliary system and to definitively diagnose the condition, and also a chance to try to fix the problem on the spot. S.T. underwent a Kasai procedure, meaning that the surgeons removed the affected bile duct and connected it to a loop of her small intestine. Unfortunately, many times this procedure will fail and the child will require a liver transplant.
Outcome:
S.T.’s Kasai was not successful, so at 9 months of life she underwent a living-related liver transplant from her father. The surgery was relatively uncomplicated, and she was discharged home after 15 days in the hospital. Although the immunosuppressive medications that S.T. must take to prevent rejection of her new liver are associated with increased infections and other serious complications, she could potentially live a long and productive life post-transplant. She will require close follow-up care by the transplant team for years to come, and may require immunosuppressants for the rest of her life.
Case created by Shelby Taylor, 2011.