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True congenital para-oesophageal hiatus hernias are rare1; an intrathoracic gastric volvulus complicating such a hernia is rarer still although a well recognised paediatric surgical emergency. Rapid diagnosis and treatment is required to avoid gastric gangrene, perforation, or dilatation that can lead to cardiopulmonary arrest.2
A girl of 18 months presented to the emergency department in a collapsed state having vomited all liquids taken for 48 hours. The vomit was dark, stained with blood but not with bile, and was foul smelling. She had been irritable throughout the episode with obvious borborigmia and had not had a wet nappy for 24 hours.
Similar episodes of foul vomiting had occurred about every two weeks for the previous six months, each episode lasting four to five days before resolving spontaneously. During each episode the child was irritable, lethargic, passed less urine, and opened her bowels less frequently. No abdominal pain was apparent. There was no blood or mucus in her stools. She had presented to her general practitioner with each episode and had been given a diagnosis of gastroenteritis on a number of occasions. As each episode had resolved spontaneously further investigations were not arranged.
There was no relevant past history and developmental progress was normal. It was noted that a maternal aunt had died at the age of 2 weeks of a “diaphragmatic hernia”.
On examination the girl was drowsy, responding to pain but not to voice, and floppy with dark vomit stains around her face. Her breath was offensive and ketotic. She was clinically dehydrated with a capillary refill time of three to four seconds. Her abdomen was soft and non-tender; the epigastrium was mildly distended with increased bowel sounds and a succussion splash. The respiratory rate was 30 breaths/minute without any distress and breath sounds were normal.
The working diagnosis at this stage was a midgut volvulus secondary to malrotation.
Laboratory results included venous pH 7.3, bicarbonate 16 mmol/l, base excess −0, urea 9.1 mmol/l, and “bedside” glucose 3.5 mmol/l. White blood cell count of 10.5×109/l with a neutrophil count of 5.3×109/l, and C reactve protein <3 mg/l. There was a good clinical response to bolus 0.9% saline 20 ml/kg, which was followed by generous maintenance fluids (8.5 ml/kg/h).
A nasogastric tube drained only 10 ml of bloodstained fluid; oral fluids were withheld.
Chest and abdominal radiographs showed a large gastric air bubble extending across the midline from the left up into the right chest. A lateral chest radiograph showed the prominent gastric air-fluid level seen to lie posteriorly (fig 1).
Given the history, clinical findings, and metabolic acidosis an obstructed intrathoracic gastric volvulus with compromise of the gastric blood supply seemed likely. Once stable the child was transferred immediately to a centre with specialist paediatric surgeons.
At surgery that night she was found to have an obstructed congenital para-oesphageal hiatus hernia, with the whole stomach in the chest. The hernia was reduced and the defect repaired. Five days postoperatively she developed an intussusception requiring further surgery but her recovery was uneventful thereafter. She was discharged home 14 days after presentation.
Five per cent of hiatus hernias are para-oesophageal but the vast majority are believed to be acquired rather than truly congenital. They involve the greater curvature of the stomach or, very rarely, the whole stomach ascending into a preformed sac within the mediastinum.3
Most congenital para-oesophageal hiatus hernias occur sporadically but there are about 20 case reports of familial paraoesophageal hernias, including a report of two affected siblings.4
Congenital paraoesophageal hiatus hernias present in a number of ways including failure to thrive, epigastric distension with projectile vomiting especially after meals, symptoms of obstruction, collapse, and cardiopulmonary arrest.2
Volvulus of the intrathoracic stomach can precipitate partial or complete obstruction of the stomach, strangulation, and perforation. Acute gastric dilatation can directly impede venous return and cardiac output. Clinical deterioration can be rapid unless halted by rapid resuscitation and urgent surgical correction. After resuscitation plain antero-posterior and lateral radiographs, augmented with contrast studies if necessary, should confirm the diagnosis.
In a solely breast fed infant blood clotting should be checked and vitamin K given if indicated.
Suspicion is the key to successful management. If the presentation is acute there is a high likelihood of volvulus, obstruction, and/or gastric dilatation, and so fluid resuscitation will be required and oral fluids should be withheld. Ideally a nasogastric tube should be passed to attempt deflation of the stomach but if there is a complete gastric volvulus this is unlikely to be successful. The child should then be transferred, without delay, to a specialist centre for surgery to reduce the hernia and repair the defect.
We thank Miss Cusick, Consultant Paediatric Surgeon, The Bristol Royal Hospital for Children who advised on the management of this child before transfer, performed the surgery, and reviewed this paper.
CONTRIBUTORS Jacqui Rees, Simon Robertson, and Andrew McNinch all attended the patient. The paper was written by Jacqui Rees who acts as guarantor for the content; the other authors reviewed and advised on the paper.
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