Late Diagnosis of Right Congenital Diaphragmatic Hernia: Why Didn`t I Think About It Sooner?

Background: Diaphragmatic hernia is not a common disease. The severity of symptoms may vary depending on the size of defect and the organs involved.

Objectives: The authors aim to raise the awareness regarding this congenital condition as it may not be clinically obvious for a long time.

Methods: We present two cases from the Pediatrics Department of “Grigore Alexandrescu” Hospital, patients with different types of presentation incidentally diagnosed with congenital diaphragmatic hernia after the age of three.

Results: Case 1: 8 year old boy presented with jaundice. The blood tests revealed elevated levels of total bilirubin, normal liver enzymes. The abdominal ultrasound described a liver mass, possibly a vascular malformation. The patient underwent MRI that excluded this supposition. A thoracic x-ray revealed a right, paracardiac, dome-shaped opacity. The diagnosis was right diaphragmatic hernia with liver thoracic dislocation.

Case 2: 3 years 6 months old girl is admitted for persistent cough. An antenatal diagnosis of agenesis of the aortic arch had been set. She was born premature, required intensive care during the neonatal period, one diagnosis being right pulmonary hemorrhage. Postnatal ultrasound examination diagnosed venous duct anomaly (hepatic veins draining in the right atrium). She had a good clinical course with normal growth, cardiac and liver functions. The clinical examination was unremarkable. A thoracic x-ray described homogeneous, well-defined opacity in the in the right lower pulmonary lobe. She underwent antibioticotherapy for pneumonia (7 days) with no change of the thoracic image. Abdominal ultrasound confirmed complex malformation of the venous duct (azygos continuation of the inferior vena cava). Thoracic computed tomography demonstrated Morgagni’s hernia with liver thoracic dislocation.

Conclusion: Diaphragmatic hernia is a challenging diagnosis to be made. Although a congenital condition, it may be asymptomatic for a long time and have many different clinical “faces” at presentation.