Abstract
We report a 12-day-old male who was admitted with vomiting because of an unusual early
complication of Marfan's syndrome (MS): a sliding hiatal hernia. Initial ultrasound
showed no stomach at its normal position and the chest X-ray presented an intrathoracic
gas bubble with the nasogastric tube inside. An upper gastrointestinal contrast study
confirmed the complete herniation of the stomach into the thorax. Via an exploratory
laparotomy it was carefully reintroduced into the abdomen, following a hiatal reconstruction.
A Thal fundoplication and a gastrostomy were also performed to guarantee its fixation.
Although characterized by cardiac/aortic abnormalities, MS should be considered in
any infant with hiatal/paraesophageal hernia, which should be repaired early to avoid
gastric ischemia/volvulus.
Keywords
Marfan's syndrome - neonatal - intrathoracic stomach - hiatal hernia - gastric volvulus
