Acquired Diaphragmatic Hernia and Intestinal Obstruction in a Child with Methylmalonic Acidemia Following Pediatric Liver Transplantation.

Abstract

Background: An acquired diaphragmatic hernia (ADH) is an uncommon event following pediatric liver transplantation. Pediatric liver transplantation proves effective in prolonging survival and improving quality of life for children with methylmalonic acidemia. Remarkably, there have been no previous reports documenting the occurrence of post-liver transplant ADH in patients diagnosed with methylmalonic acidemia.

Methods: We present a case of a child with methylmalonic acidemia who underwent pediatric liver transplantation at the age of 19 months, followed by choledochoenterostomy due to bile leakage. Three months later, during a subsequent computed tomography (CT) scan, a focal protrusion of the right diaphragmatic muscle was observed. Subsequently, a severe intestinal obstruction emerged a year later, which was diagnosed as an ADH.

Results: Following an emergency assessment of the right hemithorax, necrotic bowel resection and repair of the diaphragmatic hernia (DH) were conducted. Consequently, the hernia repair procedure was successful, and the child was discharged on the 18th postoperative day.

Conclusions: The clinical presentation and laboratory tests of ADH resembles metabolic decompensation in methylmalonic acidemia, primarily impacting the gastrointestinal and respiratory systems. It can result in severe complications, including intestinal obstruction, and should be considered a potential late complication.