title: Liver transplant in a four-month-old child with biliary atresia, unilateral pulmonary agenesis, and diaphragmatic hernia: first case report.
abstract: Bilateral pulmonary agenesis (PA) is a rare embryological defect incompatible with life. Unilateral PA has a wide range of clinical presentations: its prognosis depends on the presence and severity of other associated anomalies. Fetal biliary atresia has been associated with a number of congenital anomalies, but the etiology is still not understood. An unusual case of a child with right PA, right diaphragmatic hernia, and delayed diagnosed biliary atresia leading to liver failure is presented herein. At the age of 4 months the patient was referred to the Transplant Department at Children Healthcare of Atlanta at Egleston with cholestasis and failure to thrive. With a rapidly progressive liver insufficiency, this child was evaluated for liver transplantation. In the absence of any respiratory symptom, the patient received a deceased donor size-matched left lateral segment liver transplant, which covered the diaphragmatic defect, with no further repair required. Twenty-seven months post-transplant, the patient has good graft function, a normal Z-score and is thriving. In spite of the increased physiological and surgical challenges (absence of right lung tissue, hemi-diaphragm, and ectopic position of the liver in the right chest), liver transplantation was performed with positive outcome in this high-risk child. Whether PA, may have developmentally contributed to expression of biliary atresia will need further investigation.
authors.affiliation: Department of Pediatric Liver Transplantation, Children's Healthcare of Atlanta at Egleston, Atlanta, GA, USA. thomas.heffron@choa.org
authors.forename: Thomas
authors.initials: T
authors.lastname: Heffron
authors.forename: David
authors.initials: D
authors.lastname: Welch
authors.forename: Todd
authors.initials: T
authors.lastname: Pillen
authors.forename: Mark
authors.initials: M
authors.lastname: Guy
authors.forename: Massimo
authors.initials: M
authors.lastname: Asolati
authors.forename: Phil
authors.initials: P
authors.lastname: Hagedorn
authors.forename: George
authors.initials: G
authors.lastname: Atkinson
authors.forename: Carlos
authors.initials: C
authors.lastname: Fasola
authors.forename: Rene
authors.initials: R
authors.lastname: Romero
mesh_terms: D001656:Biliary Atresia / Q000150:complications* / Q000601:surgery*; D005260:Female; D005500:Follow-Up Studies; D006085:Graft Survival; D006548:Hernia, Diaphragmatic / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000601:surgery; D065630:Hernias, Diaphragmatic, Congenital; D006801:Humans; D007223:Infant; D016031:Liver Transplantation; D008168:Lung / Q000002:abnormalities*; D011859:Radiography; D013997:Time Factors; D016896:Treatment Outcome