Case Study: First Diagnosis May Not Be Last
Published on in CHOP News
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Published on in CHOP News
E.K. presented with jaundice and discolored stool when he was a few weeks old. Concerned, his parents contacted his pediatrician, who referred them to a gastroenterologist for an evaluation and tests. Blood tests revealed the baby had Pi ZZ alpha-1 antitrypsin deficiency (A1AT), a genetic disorder that can cause lung disease, liver problems and skin issues. While clinical manifestations of the disorder vary widely, individuals with Pi type ZZ may have the most severe form of AATD.
E.K. was treated with medication, but still his symptoms persisted. One of the child’s relatives, who was a physician, worried the boy might also have biliary atresia, a serious yet rare liver disorder that causes the baby’s bile ducts to be become blocked. Left untreated, biliary atresia can permanently damage the liver.
Local doctors recommended an intraoperative cholangiogram, an imaging test that allows clinicians to see what’s happening in the patient’s bile ducts in real time. The family decided they wanted a second opinion – not just for the testing, but for potential treatment as well – and came to Children’s Hospital of Philadelphia (CHOP).
Specialists at CHOP have been caring for children with biliary atresia since the 1970s. Our Biliary Atresia Clinical Care Program provides care and treatment for one of the largest populations of biliary atresia patients in the United States. The program is part of the Fred and Suzanne Biesecker Pediatric Liver Center, an international leader in liver care and research.
In consultation with the Division of Gastroenterology, Hepatology and Nutrition, the Division of Pediatric General, Thoracic and Fetal Surgery and E.K.’s family, we determined intraoperative cholangiogram was necessary. His cholangiogram confirmed the presence of biliary atresia and surgery – specifically a Kasai procedure to reroute E.K.’s remaining bile ducts directly to the bowel – was completed under the same anesthesia in August 2018 by Michael L. Nance, MD, FACS, FAAP.
E.K. recovered in the hospital for five days before being discharged home. Initial follow up was monthly, but as he has done very well, he now returns twice a year to CHOP for follow-up testing, a physical exam and growth measurements. During the COVID-19 pandemic, E.K. was able to be assessed virtually through a video visit.
Results have been overwhelmingly positive: E.K. is meeting his growth and developmental milestones and continues to flourish at home with his family. Now 2½, E.K. is a lively toddler who like bubbles and bike rides.
E.K.’s case reminds us of the importance of early testing and timely referrals in newborns experiencing jaundice and gastrointestinal issues. If a patient has unexplained GI symptoms that persist – even after an initial diagnosis is made – it’s incumbent upon clinicians to continue searching for answers.
In E.K.’s case, we learned that despite his early genetic finding, his primary symptoms were caused by another disease entirely. By correctly diagnosing and treating E.K.’s biliary atresia, we produced the desired outcome – a healthy future for a gregarious little boy.
Elizabeth B. Rand, MD, is a pediatric gastroenterologist in the Division of Gastroenterology, Hepatology and Nutrition, and Medical Director of the Liver Transplant Program, both at Children’s Hospital of Philadelphia.
Contributed by: Elizabeth B. Rand, MD