Congenital diaphragmatic hernia: an unusual presentation

Abstract

Congenital diaphragmatic hernia is a developmental defect of the diaphragm that allows herniation of abdominal contents into the thoracic cavity. It is usually diagnosed in the neonatal period. Late presenting cases are uncommon and difficult to diagnose, due to their rarity and diversity of semiology, with clinical presentation overlapping with other more frequent pathologies. We report a case of a 14-month-old male, with history of several episodes of bronchial hyperresponsiveness, that presented with a two-day history of nasal obstruction, emetizing cough and respiratory distress, without other associated symptoms. On physical examination we observed a 95% oxygen saturation, tachycardia, pallor, signs of respiratory distress, decreased breathing sounds in the left hemithorax and excavated abdomen. Chest radiography revealed the presence of intestinal loops in the left hemithorax, with contralateral mediastinal deviation, suggesting diaphragmatic hernia. Surgical correction was performed with direct closure of the posterolateral defect. This case highlights the importance of clinical evaluation and considering this entity in cases of persistent gastrointestinal or respiratory symptoms, in all age groups.