Research: Congenital diaphragmatic hernia in patient with 1p36 deletion

Clin Case Rep

. 2024 Feb 9;12(2):e8502.

 doi: 10.1002/ccr3.8502. eCollection 2024 Feb.

Congenital diaphragmatic hernia in patient with 1p36 deletion

Midhat Zihra 1Ibad Rehmaan 1Saman Amjed 1Khawar Abbass 1Ata Ullah Khan 1Anwaar Ul Haq 1Hashim Talib Hashim 2Khadija Iqbal 3Ahmed Dheyaa Al-Obaidi 4Ahmed Qasim Mohammed Alhatemi 5Ali Talib Hashim 6

Affiliations expand

Free PMC article


Key clinical message: This case underscores the atypical presentation of late-onset congenital diaphragmatic hernia in a 9-old with 1p36 deletion syndrome. Recognition of respiratory distress and abdominal symptoms is crucial for intervention.

Abstract: Congenital Diaphragmatic Hernia (CDH) is a condition characterized by the protrusion of abdominal contents into the thoracic cavity due to a defect in the diaphragm. While typically observed in the neonatal period, CDH can present in later life. This case report describes the presentation, diagnosis, and management of a nine-year-old boy with 1p36 deletion syndrome who presented with respiratory distress, abdominal pain, vomiting, and anorexia. The initial diagnosis was tension pneumothorax, and thus the patient underwent chest tube placement. However, a high-resolution CT scan revealed a left hemidiaphragmatic hernia, and the patient eventually underwent an emergency laparotomy due to acute-onset respiratory distress. Intraoperatively, a diagnosis of Bochdalek hernia with gastric perforation was made, and the CDH and gastric perforations were resolved successfully. This case highlights the importance of considering late-presenting CDH as a possible diagnosis in pediatric patients with similar symptoms and the radiological findings suggestive of tension pneumothorax. Early recognition and prompt surgical intervention can lead to successful management of such cases.

Keywords: 1p36 deletion syndrome; Hemidiaphragmatic hernia; congenital diaphragmatic hernia; pediatric; tension pneumothorax.

Recommended Articles

Translate »