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Late presentation of congenital diaphragmatic hernia
  1. C P O'Neill,
  2. R Mabrouk,
  3. W A McCallion
  1. Paediatric Intensive Care Unit, Royal Belfast Hospital For Sick Children, Falls Road, Belfast BT12 6BE, UK;conoroneill{at}doctorsnet.org.uk

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Congenital diaphragmatic hernia (CDH) presents most frequently in the newborn period, with neonates exhibiting severe respiratory distress. However, a proportion (estimated to be between 5% to 30%1) present beyond the neonatal period.

We report a case of an 18 month old child who presented with acute tension pneumothorax. The previously healthy 18 month old boy, who had had an uneventful neonatal period, was admitted with a two day history of cough and vomiting. He was febrile, poorly perfused, tachypnoeic, and unresponsive. He was resuscitated and intubated. Chest x ray (fig 1) showed a large left pneumothorax, with mediastinal shift and gastric or intestinal air bubble above the diaphragm. A chest drain was inserted, releasing air and dark brown fluid. Microscopy revealed a mixture of Gram positive and negative cocci and bacilli, implying gastrointestinal perforation. He was transferred to the paediatric intensive care unit with a provisional diagnosis of strangulated congenital diaphragmatic hernia. This was confirmed at laparotomy with perforation secondary to ischaemia. Stomach, colon, and spleen were reduced from the left hemithorax and a gastric perforation repaired. The child made a satisfactory postoperative recovery.

With an incidence of 1 in 3000 live births, congenital diaphragmatic hernia is relatively common. However, this diagnosis is often not considered after the neonatal period. CDH should be considered in any infant or child presenting with respiratory symptoms, particularly where the chest x ray shows a poorly defined diaphragm and cystic lesion on their chest x ray film.2

Figure 1

Chest x ray showing a large left sided tension pneumothorax with the appearance of gastric bubble above the diaphragm.

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