A 2-year-old boy with a past medical history of Hirschsprung disease presents to the emergency department (ED) with vomiting, abdominal distension, and inability to tolerate PO for one day. His parents had been instructed by their pediatric surgeon to perform rectal irrigations 2-3 times daily for the few days prior to presentation.
The differential diagnosis for pediatric patients presenting with vomiting is broad and includes but is not limited to gastritis, diabetic ketoacidosis, pyloric stenosis, appendicitis, intussusception, urinary tract infection, colic, toxic ingestion, volvulus, incarcerated hernia, and bowel obstruction. However, in a child with Hirschsprung disease who presents with vomiting, an emergency medicine physician must maintain a high degree of suspicion for Hirschsprung-associated enterocolitis (HAEC).
Hirschsprung disease is a rare congenital condition affecting approximately 1-in-5,000 births that refers to a functional intestinal obstruction due to the absence of ganglionic cells in the myenteric plexus of the distal colon. Life-threatening complications of Hirschsprung disease include bowel obstruction, Hirschsprung-associated enterocolitis (HAEC), and toxic megacolon. HAEC is the leading cause of morbidity and mortality in these patients. HAEC can present with vague symptoms such as fever, diarrhea, vomiting, rectal bleeding, constipation, and lethargy. Due to these nonspecific symptoms, it is necessary for emergency medicine physicians to maintain a high index of suspicion for HAEC. Once diagnosed, immediate resuscitation should begin with the placement of a rectal tube for decompression, initiation of broad-spectrum antibiotics and fluids, as well as urgent pediatric surgery consultation.
HAEC can present with nonspecific symptoms of diarrhea, vomiting, fever, lethargy, abdominal distension, and obstipation.
HAEC must be quickly identified in patients with Hirschsprung disease due to the risk of rapid decompensation from hypovolemic shock secondary to dehydration, septic shock from HAEC, and the development of toxic megacolon.
HAEC is the leading cause of morbidity and mortality in pediatric patients with Hirschsprung disease.
Gosain A. Established and emerging concepts in Hirschsprung’s-associated enterocolitis. Pediatr Surg Int. 2016 Apr;32(4):313-20. doi: 10.1007/s00383-016-3862-9. Epub 2016 Jan 19. PMID: 26783087; PMCID: PMC5321668.
Maloney, Patrick J. “Gastrointestinal Disorders.” Rosen’s Emergency Medicine: Concepts and Clinical Practice. 9th Edition. Chapter 171. Page 2126-2144. 2018.