Late-Stage Diagnosis of Biliary Atresia in Rural America

Biliary atresia (BA) is a rare neonatal disease characterized by progressive obstruction of the extrahepatic biliary system, with an etiology that remains poorly understood. This case describes the presentation of BA in a female neonate and underscores the consequences of delayed communication in a rural healthcare setting. The patient was born at a rural hospital, where laboratory tests were obtained but not processed and communicated to her pediatrician in a timely manner. As a result, her first notable clinical finding occurred at the two-week wellness visit, when mild hepatomegaly was suspected by physical exam, prompting an initial workup that was unrevealing. At subsequent visits, however, additional signs and symptoms emerged, leading to hospital admission for further evaluation due to concern for underlying liver pathology. The patient was diagnosed with type IIa BA with advanced cirrhosis, underwent liver transplantation, and at six months post-transplant, is doing well with a weight of 9.3 kg.