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Late presenting congenital diaphragmatic hernia
  1. A V Sridhar,
  2. S Nichani
  1. Paediatric Intensive Care Unit, Leicester Royal Infirmary, University Hospital of Leicester NHS Trust, Leicester, UK
  1. Correspondence to:
 Dr A V Sridhar
 Department of Child Health, Robert Kilpatrick Clinical Sciences Building, Leicester Royal Infirmary, Leicester LE2 7LX, UK; srinaiduaol.com

Abstract

Delayed herniation of the abdominal contents through a congenital diaphragmatic hernia may occur beyond the neonatal period. The case is reported of a 9 month old child presenting with acute respiratory distress secondary to tension gastrothorax. The chest radiograph showed a tension gastrothorax. Nasogastric tube placement confirmed herniation of the stomach into the left chest and is the initial treatment of choice when a tension gastrothorax is identified. The late presenting congenital diaphragmatic hernia poses considerable diagnostic challenges often leading to misdiagnosis and risk of thoracocentesis. The possibility of late presenting congenital diaphragmatic hernia should be considered in unusual cases of pneumothorax, especially in the absence of trauma so that unnecessary procedures like chest tube drainage can be avoided.

  • congenital diaphragmatic hernia
  • gastrothorax
  • pneumothorax

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Congenital diaphragmatic hernia (CDH) occurs in about 1 in 3000 births. The most common defect is the posterolateral (Bochdalek) type. Over 90% of the patients will be diagnosed either antenatally or will present with respiratory distress in the first few hours of life. In these cases there are few diagnostic problems. There is a significant mortality associated with this group.1

However, about 5% to 30% of diaphragmatic hernias present beyond the neonatal period.2 Although the mortality in this group is low, the morbidity may be significant. The late presenting congenital diaphragmatic hernia poses considerable diagnostic challenges because of its varied presentation often resulting in diagnostic delay, inappropriate treatment, and potential fatal outcome.3

CASE REPORT

A previously healthy 9 month old boy presented to his local accident and emergency department with acute onset of breathlessness, grunting, and excessive screaming of one to two hours’ duration. There was no history of trauma or any previous respiratory or gastrointestinal illness.

On examination he was afebrile, poorly perfused, tachycardic, tachypnoeic with moderate subcostal and intercostal recession. Air entry was reduced on the left side chest with mediastinal shift to the right. Abdominal examination was normal. He needed high flow oxygen to maintain oxygen saturation and fluid resuscitation with intravenous 0.9% saline.

A chest radiograph (fig 1) showed a massive gastrothorax on the left side with mediastinal shift to the right side. This was confirmed by placing a nasogastric tube in the stomach (fig 2), which also gave symptomatic relief to the patient. Computed tomography of the chest (fig 3) demonstrated left sided Bochdalek diaphragmatic hernia with pronounced herniation of the stomach and proximal small bowel into the left hemithorax, with contralateral mediastinal shift and complete collapse of the left lung.

Figure 1

Chest radiograph showing massive gastrothorax on the left side of the chest with mediastinal shift to the right.

Figure 2

Chest radiograph showing the stomach with the nasogastric tube (arrow) on the left side of the chest.

Figure 3

CT scan at midthoracic level showing the herniation of the stomach into the left hemithorax with nasogastric tube (arrow) and collapse of the left lung.

He was ventilated and transferred to the paediatric intensive care unit. On laparotomy there was a small posterolateral (Bochdalek) defect in the left hemidiaphragm with the stomach, proximal small bowel and spleen in the left hemithorax that were reduced and the diaphragm was repaired. He also had malrotation of the gut for which he underwent a Ladd’s procedure. Postoperative chest radiograph showed full expansion of the left lung, and the patient made a full recovery.

DISCUSSION

In late presenting congenital diaphragmatic hernias, the extent of herniation of abdominal viscera into the thorax may vary, leading to acute or intermittent symptoms. A previously normal chest radiograph has been reported in number of cases suggesting that in such cases the defect is long standing, but the viscera are confined by the hernial sac or obturated by a solid organ. The patient becomes symptomatic when actual herniation takes place later in life because of rupture of the hernial sac. There is probably a second group of patients in whom the herniation has been long standing, but who only present when a complication of the herniated contents such as volvulus or strangulation occurs.3

Berman et al in their series of 26 patients with late presenting CDH, reported that 16 patients had a initial diagnosis of primary lung abnormality, with four patients undergoing thoracocentesis.3 There are a number of case reports in the literature where late presenting diaphragmatic hernias have been misdiagnosed as pneumothorax and patients have undergone unnecessary emergency thoracocentesis.4–6 In our patient although the clinical presentation was suggestive of left sided pneumothorax, a differential diagnosis of left sided congenital diaphragmatic hernia was considered and confirmed by chest radiograph after nasogastric tube insertion, which not only showed the stomach on the left side of the thorax, but also relieved his respiratory symptoms.

The inappropriate insertion of a chest drain, although relieving the symptoms temporarily, may result in serious consequences by damaging intrathoracic abdominal viscera. There is also the risk of spillage of the gastric or intestinal contents into the thoracic cavity leading to mediastinitis. Damage to the spleen or blood vessels in cases of left sided CDH could result in life threatening haemorrhage. In cases of right sided CDH, an intrathoracic liver may be damaged by a chest drain.6

If the diagnosis of late presenting CDH is suspected, an ultrasound is a useful diagnostic tool.7 When gastrothorax is suspected, a chest radiograph with a nasogastric tube in place will lead to the correct diagnosis.3 The other diagnostic tools available for the accurate diagnosis of late presenting CDH include computed tomography, magnetic resonance imaging, and upper or lower gastrointestinal contrast studies.7

In conclusion, the diagnostic possibility of late presenting congenital diaphragmatic hernia should be considered in unusual cases of pneumothorax, especially in the absence of trauma so that thoracocentesis can be avoided. Nasogastric tube placement must be considered as an early diagnostic or therapeutic intervention when the diagnosis is suspected. A high index of suspicion is required to avoid undue delay in diagnosis and inappropriate management.

REFERENCES

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