Emergency complications of Hirschsprung disease
- Erin E Endom, MD
Erin E Endom, MD
- Assistant Professor of Pediatrics
- Baylor College of Medicine
- David E Wesson, MD
David E Wesson, MD
- Professor of Surgery
- Baylor College of Medicine
- Section Editors
- Jonathan I Singer, MD
Jonathan I Singer, MD
- Section Editor — Pediatric Surgical Emergencies
- Professor of Emergency Medicine and Pediatrics
- Wright State University Boonshoft School of Medicine
- B UK Li, MD
B UK Li, MD
- Section Editor — Pediatric Gastroenterology
- Professor of Pediatrics
- Medical College of Wisconsin
Hirschsprung disease (HD) is a motor disorder of the colon caused by the failure of neural crest cells (precursors of enteric ganglion cells) to migrate completely during intestinal development. The resulting aganglionic segment of the colon fails to relax, causing a functional obstruction. In the majority of patients, the disorder affects a short segment of the distal colon and rectum, with a transition zone in the rectosigmoid. In other patients, the aganglionosis involves longer segments of the colon; in rare cases, the entire colon and parts of the small bowel may also be involved.
HD occurs in approximately 1 in 5000 live births, with an overall male:female ratio of 3:1 to 4:1. When the entire colon is involved, the gender ratio more nearly approaches 1:1 [1-3].
This topic review focuses on emergency complications of HD, the most important of which are mechanical intestinal obstruction and Hirschsprung-associated enterocolitis (HAEC). In most cases, mechanical obstruction and HAEC can be treated nonoperatively while the diagnostic work-up is completed. However, it is important to remember that those patients with these presenting problems who do not improve with nonoperative treatment will likely need a laparotomy and diverting colostomy or ileostomy depending on the level of the transition zone. Colonic volvulus, a rare complication, also is discussed. The pathogenesis, diagnosis, and clinical management of HD are presented separately. (See "Congenital aganglionic megacolon (Hirschsprung disease)".)
ACUTE OBSTRUCTION IN THE NEONATE
HD accounts for a substantial proportion of cases of neonatal bowel obstruction . Neonates who become symptomatic during the first few days of life typically present with failure to pass meconium (present in about 95 percent of neonates with HD), abdominal distension and tenderness, poor feeding, vomiting (which may be bilious or feculent), and other signs of intestinal obstruction [5,6]. Their clinical condition may deteriorate rapidly unless they are treated promptly. Most newborns with HD can be resuscitated and stabilized by nonoperative means, allowing for a full diagnostic work-up and definitive elective surgery. Emergency surgery is seldom needed, and exploratory laparotomy in undiagnosed cases of HD is to be avoided. Those who present later in infancy have similar symptoms, but are less likely to develop acute obstruction. (See "Congenital aganglionic megacolon (Hirschsprung disease)", section on 'Clinical features'.)
Occasionally, neonates and infants with undiagnosed HD may present with Hirschsprung-associated enterocolitis (HAEC), which is discussed below. The clinical presentation includes fever, lethargy, anorexia, vomiting, abdominal distension, and diarrhea; an explosion of gas and liquid stool may occur following digital rectal examination. Because HD is increasingly diagnosed in the first few months of life, fewer children present with HAEC than in the past. Most cases of HAEC now occur after a pull-through procedure, as discussed below. (See 'Enterocolitis' below.)To continue reading this article, you must log in with your personal, hospital, or group practice subscription. For more information on subscription options, click below on the option that best describes you:
- Suita S, Taguchi T, Ieiri S, Nakatsuji T. Hirschsprung's disease in Japan: analysis of 3852 patients based on a nationwide survey in 30 years. J Pediatr Surg 2005; 40:197.
- Best KE, Addor MC, Arriola L, et al. Hirschsprung's disease prevalence in Europe: a register based study. Birth Defects Res A Clin Mol Teratol 2014; 100:695.
- Ieiri S, Suita S, Nakatsuji T, et al. Total colonic aganglionosis with or without small bowel involvement: a 30-year retrospective nationwide survey in Japan. J Pediatr Surg 2008; 43:2226.
- Fitzgerald JF. Constipation in children. Pediatr Rev 1987; 8:299.
- Pearl RH, Irish MS, Caty MG, Glick PL. The approach to common abdominal diagnoses in infants and children. Part II. Pediatr Clin North Am 1998; 45:1287.
- Khan AR, Vujanic GM, Huddart S. The constipated child: how likely is Hirschsprung's disease? Pediatr Surg Int 2003; 19:439.
- Cowles RA, Berdon WE, Holt PD, et al. Neonatal intestinal obstruction simulating meconium ileus in infants with long-segment intestinal aganglionosis: Radiographic findings that prompt the need for rectal biopsy. Pediatr Radiol 2006; 36:133.
- Imamura A, Puri P, O'Briain DS, Reen DJ. Mucosal immune defence mechanisms in enterocolitis complicating Hirschsprung's disease. Gut 1992; 33:801.
- Sherman JO, Snyder ME, Weitzman JJ, et al. A 40-year multinational retrospective study of 880 Swenson procedures. J Pediatr Surg 1989; 24:833.
- Bill, AH, Chapman, ND. The enterocolitis of Hirschsprung's disease: Its natural history and treatment. Am J Surg 1962; 103:70.
- Haricharan RN, Seo JM, Kelly DR, et al. Older age at diagnosis of Hirschsprung disease decreases risk of postoperative enterocolitis, but resection of additional ganglionated bowel does not. J Pediatr Surg 2008; 43:1115.
- Teitelbaum DH, Qualman SJ, Caniano DA. Hirschsprung's disease. Identification of risk factors for enterocolitis. Ann Surg 1988; 207:240.
- Elhalaby EA, Coran AG, Blane CE, et al. Enterocolitis associated with Hirschsprung's disease: a clinical-radiological characterization based on 168 patients. J Pediatr Surg 1995; 30:76.
- Menezes M, Puri P. Long-term outcome of patients with enterocolitis complicating Hirschsprung's disease. Pediatr Surg Int 2006; 22:316.
- Frykman PK, Short SS. Hirschsprung-associated enterocolitis: prevention and therapy. Semin Pediatr Surg 2012; 21:328.
- Orenstein, JB. Hirschsprung disease. In: Pediatric emergency medicine: Concepts and clinical practice, Barkin, RM (Ed), Mosby-Year Book, Inc, St Louis 1997. p.850.
- Gosain A, Frykman PK, Cowles RA, et al. Guidelines for the diagnosis and management of Hirschsprung-associated enterocolitis. Pediatr Surg Int 2017; 33:517.
- Blane CE, Elhalaby E, Coran AG. Enterocolitis following endorectal pull-through procedure in children with Hirschsprung's disease. Pediatr Radiol 1994; 24:164.
- Pastor AC, Osman F, Teitelbaum DH, et al. Development of a standardized definition for Hirschsprung's-associated enterocolitis: a Delphi analysis. J Pediatr Surg 2009; 44:251.
- Sheth J, Nour S, Dickinson F. CT images of Hirschsprung's associated enterocolitis: a rare finding. Arch Dis Child 2009; 94:816.
- Mattar AF, Coran AG, Teitelbaum DH. MUC-2 mucin production in Hirschsprung's disease: possible association with enterocolitis development. J Pediatr Surg 2003; 38:417.
- SWENSON O, NEUHAUSER EB, PICKETT LK. New concepts of the etiology, diagnosis and treatment of congenital megacolon (Hirschsprung's disease). Pediatrics 1949; 4:201.
- Shen DH, Shi CR, Chen JJ, et al. Detection of intestinal bifidobacteria and lactobacilli in patients with Hirschsprung's disease associated enterocolitis. World J Pediatr 2009; 5:201.
- Hardy SP, Bayston R, Spitz L. Prolonged carriage of Clostridium difficile in Hirschsprung's disease. Arch Dis Child 1993; 69:221.
- Pierre JF, Barlow-Anacker AJ, Erickson CS, et al. Intestinal dysbiosis and bacterial enteroinvasion in a murine model of Hirschsprung's disease. J Pediatr Surg 2014; 49:1242.
- Teich S, Schisgall RM, Anderson KD. Ischemic enterocolitis as a complication of Hirschsprung's disease. J Pediatr Surg 1986; 21:143.
- Estevão-Costa J, Fragoso AC, Campos M, et al. An approach to minimize postoperative enterocolitis in Hirschsprung's disease. J Pediatr Surg 2006; 41:1704.
- Wu X, Feng J, Wei M, et al. Patterns of postoperative enterocolitis in children with Hirschsprung's disease combined with hypoganglionosis. J Pediatr Surg 2009; 44:1401.
- Hackam DJ, Filler RM, Pearl RH. Enterocolitis after the surgical treatment of Hirschsprung's disease: risk factors and financial impact. J Pediatr Surg 1998; 33:830.
- Wilson-Storey, D. Microbial studies of enterocolitis in Hirschsprung's disease. J Pediatr Surg 1994; 9:248.
- Elhalaby EA, Teitelbaum DH, Coran AG, Heidelberger KP. Enterocolitis associated with Hirschsprung's disease: a clinical histopathological correlative study. J Pediatr Surg 1995; 30:1023.
- Ghosh A, Griffiths DM. Rectal biopsy in the investigation of constipation. Arch Dis Child 1998; 79:266.
- Marty TL, Seo T, Sullivan JJ, et al. Rectal irrigations for the prevention of postoperative enterocolitis in Hirschsprung's disease. J Pediatr Surg 1995; 30:652.
- Núñez R, Torres A, Agulla E, et al. [Rectal irrigation and bowel decontamination for the prevention of postoperative enterocolitis in Hirschsprung's disease]. Cir Pediatr 2007; 20:96.
- DEAN GO, MURRY JW. Volvulus of the sigmoid colon. Ann Surg 1952; 135:830.
- Neilson IR, Youssef S. Delayed presentation of Hirschsprung's disease: acute obstruction secondary to megacolon with transverse colonic volvulus. J Pediatr Surg 1990; 25:1177.
- Tan FL, Tan YM, Heah SM, Seow-Choen F. Adult Hirschsprung's disease presenting as sigmoid volvulus: a case report and review of literature. Tech Coloproctol 2006; 10:245.
- Khalayleh H, Koplewitz BZ, Kapuller V, et al. Neonatal sigmoid volvulus. J Pediatr Surg 2016; 51:1782.
- Sarioğlu A, Tanyel FC, Büyükpamukçu N, Hiçsönmez A. Colonic volvulus: a rare presentation of Hirschsprung's disease. J Pediatr Surg 1997; 32:117.
- Venugopal KS, Wilcox DT, Bruce J. Hirschsprung's disease presenting as sigmoid volvulus in a newborn. Eur J Pediatr Surg 1997; 7:172.