Biliary atresia

Yellow (updated)


It has been a busy morning so far. After seeing a series of patients in your clinic, you are finally ready to head on to your ward. As you walk into the ward, your intern greets you and asks if you're ready to start the ward round. You nod "yes", and she escorts you over the first patient, and starts presenting the case.


You are introduced to 2-week-old Hannah, and her mother, Sue. Hanna was admitted around an hour ago after she started passing acholic stools earlier today. She has had no other symptoms and has been feeding normally so far. The antenatal period was without incident. Hannah was born at 40 weeks of gestation, via an uncomplicated vaginal delivery. Her Apgar score was 8/9, and birth weight was 2.590 kg. Hannah's family history is unremarkable. Sue shows you several photos of Hanna's stools - you immediately recognize them to be acholic.


Your intern starts presenting the examination findings. Even before she mentions this, you notice that Hannah is visibly icteric, with her eyes, face, chest, and upper abdomen involved. Hannah's weight is 2.700 kg. Her vital signs are stable, no dysmorphic features are discernible, and she is not pale. There are no petechiae or ecchymoses. There is no hepatosplenomegaly. Examination of the heart and lungs shows no abnormalities.


Your intern also ordered a panel of investigations. You quickly peruse through the results. WBC: 10,000/mm3 (8,000 - 14,300) Hb: 15.1 g/dL (12.7 - 18.3) Platelets: 305,000/L (234,000 - 346,000) Reticulocyte count: 0.5% (<0.1 - 1.2) Peripheral blood smear: no abnormalities Maternal blood group: O+ Infant's blood group: O+ Total bilirubin: 210 μmol/L Conj. bilirubin: 99 μmol/L (<10 mmol/L) Albumin: 2.7 g/dL (2.6-3.6) ALT: 30 IU/L (7 - 45) AST: 25 IU/L (8 - 50) ALP: 400 IU/L (95 - 368) GGT: 33 IU/L (7 - 19) TSH: 5.1 mU/L (0.72 - 13.10) T4: 211 nmol/L (81 - 276) Alpha-1-antitrypsin: 160 mg/dL (143 - 440) A urinalysis, chest x-ray, and sweat test are all normal.


"More than enough tests for now," you think and put the sheaf of investigation results down. However, a couple of seconds later, you realize that you really should order an abdominal ultrasound scan.


"Perhaps we should order a septic screen now," you say. Your intern looks puzzled. "I guess that an infection could cause cholestasis, but enough to cause acholic stools?" she asks. Her question jogs your memory, and you realize what you really should be ordering.


You write out an order for an urgent abdominal ultrasound scan and proceed with the ward round. Around half an hour later, the results of the scan are placed in front of you. Apparently, the left and right main hepatic ducts are obliterated at the level of the porta hepatis. There is no biliary duct dilatation. The gallbladder is small. The triangular echogenic cord sign is present. The liver and spleen appear normal.


When your intern hears your provisional diagnosis, she is thrown into confusion. You can see that she is wondering whether to voice her disagreement or not. You quickly rethink the clinical findings and investigation results and realize that there is a much better diagnosis.


"This is extrahepatic biliary atresia," you say confidently. Your intern nods in agreement. However, you also realize that further investigation is necessary for definitive diagnosis.


You intern disagrees with your decision. "Shouldn't we go for a liver biopsy immediately?" she asks. You realize that she is right!


You call up the pathologist and give him a heads-up. You then perform a liver biopsy. The following morning, the histopathology results are available. These confirm the diagnosis of biliary atresia. Realizing the importance of haste, you call up the hospital's pediatric surgeon and discuss the case with him.


The pediatric surgeon sounds confused. "I'd recommend the Kasai procedure," he says. You realize your mistake and thank him for correcting you.


The pediatric surgeon proceeds to schedule the operation for the following day. Subsequently, Hannah's surgery is successful and biliary drainage is established successfully. Her jaundice rapidly resolves, and she is soon ready to go back home.


A few months later, Hannah and her mother depart your clinic, after yet another follow-up visit. She has made a perfect recovery over time. As the door closes behind them, you say a prayer for her long term outcome. You tell yourself that you've done everything you could and that only time will tell now. Well done!