Case Rep Pediatr

. 2024 May 15:2024:7518183.

 doi: 10.1155/2024/7518183. eCollection 2024. https://pubmed.ncbi.nlm.nih.gov/38779305/

Beyond the Neonate: A Delayed Presentation of Congenital Diaphragmatic Hernia in a 17-Year-Old

Vivienne Vinton ¹, Molly Posa ², Maria N Kelly ³, Janice A Taylor ⁴, Jaclyn Otero ⁵

Affiliations expand

• PMID: 38779305
• PMCID: PMC11111302
• DOI: 10.1155/2024/7518183

Abstract

Congenital diaphragmatic hernia (CDH) is a rare anomaly resulting from incomplete closure of pleuroperitoneal canals during fetal development, often presenting with acute respiratory distress in neonates. This case report highlights a 17-year-old female with recurrent episodes of acute left upper quadrant (LUQ) pain and no history of trauma or dietary change. A computerized tomography (CT) scan taken during her second presentation to the emergency department led to a diagnosis of left-sided CDH. She later had a successful laparoscopic diaphragmatic repair surgery and has remained symptom-free for over a year. Late-presenting CDH indicates a rare subset of cases diagnosed after one month of age. Late presentations comprise 5-25% of cases and become increasingly rare with age. Unlike neonatal CDH, which is associated with several comorbidities, late presentations often manifest as a standalone anomaly. When the correct diagnosis is made, uncomplicated surgical repair yields excellent long-term outcomes. However, delayed and incorrect diagnoses can result in serious morbidity. Late-presenting CDH has diverse clinical presentations and can elude diagnostic imaging. As a result, there is a need for heightened clinical suspicion. This report aims to enhance awareness of late-presenting CDH and explore challenges to prompt, accurate diagnosis. Ultimately, this study implores clinicians to consider this condition in patients with unexplained respiratory or gastrointestinal symptoms.

Copyright © 2024 Vivienne Vinton et al.