An Unusual Case of Vomiting and Poor Oral Intake in an 18-month-old Infant

Introduction: Congenital diaphragmatic hernia develops when a component of the diaphragm does not form properly, allowing the abdominal viscera to enter the thoracic cavity. It is typically diagnosed in the prenatal period on prenatal ultrasound; however, there have been increasingly more cases diagnosed in the postnatal period and beyond. Gastric volvulus is an exceedingly rare complication that has been associated with congenital diaphragmatic hernia.

Case Description: We report a case of a previously healthy 18-month old girl who presented with a one-day history of non-bilious non-bloody vomiting, diarrhea, and poor oral intake. Initial workup was significant for an elevated lipase level and negative abdominal ultrasonography. Her symptoms were initially thought to be secondary to acute pancreatitis or viral gastroenteritis. She was treated with intravenous fluids and ondansetron as needed. However, her symptoms did not improve over the course of two days and she continued to fail oral challenges. Repeat abdominal ultrasonography demonstrated evidence of marked distention of the stomach with layering content. Chest and abdominal x-rays showed a fluid distended stomach, elevated left hemi-diaphragm with extension of the stomach and/or transverse colon into the chest, as well as mass effect with mediastinal shift to the right, suggesting bowel loops herniating into the chest. A nasogastric tube was successfully placed for decompression for concern for bowel obstruction. Chest and abdominal computed tomography scans confirmed a left Bochdalek diaphragmatic hernia and associated gastric volvulus with partial obstruction. Emergent laparotomy was performed with reduction of the herniated contents and gastric volvulus. A retrospective review of her prenatal ultrasound was without evidence of a congenital diaphragmatic hernia.

Discussion: Gastric volvulus occurs when there is an abnormal rotation of the stomach greater than 180 degrees. Less than 30 pediatric cases of delayed presentation of congenital diaphragmatic hernia with acute gastric volvulus have been reported in the current literature.

Conclusion: This case highlights the crucial importance of considering late presenting congenital diaphragmatic hernia in pediatric patients presenting with non-specific abdominal symptoms such as vomiting, diarrhea, and poor oral intake that are unresponsive to conventional management. Delayed and misdiagnosis are common and can lead to significant morbidity and mortality. A negative prenatal ultrasound does not exclude the possibility of having a congenital diaphragmatic hernia.