History

The majority of Hirschsprung cases are sporadic. Approximately 10% of Hirschsprung patients have a family member who was also affected. This predisposition is more common in patients with longer-segment disease.

Prenatal ultrasonography demonstrating bowel obstruction is rare, except in cases of total colonic involvement.^[42]

Hirschsprung disease should be considered in any newborn with delayed passage of meconium or in any child with a history of chronic constipation since birth. Other symptoms include bowel obstruction with bilious vomiting, abdominal distention, poor feeding, and failure to thrive.

Older children with Hirschsprung disease usually have chronic constipation since birth. They may also show evidence of poor weight gain.

Older presentation is more common in breastfed infants who will typically develop constipation around the time of weaning.

Despite significant constipation and abdominal distention, children with Hirschsprung disease rarely develop encopresis (fecal incontinence secondary to impacted stools). In contrast, children with functional constipation or stool-withholding behaviors more commonly develop encopresis.

About 10% of children present with diarrhea caused by enterocolitis, which is hypothesized to stem from stasis and bacterial overgrowth. This may progress to colonic perforation, causing life-threatening sepsis.^[43]

In a study of 259 consecutive patients, Menezes and colleagues reported that 57% of patients presented with intestinal obstruction, 30% with constipation, 11% with enterocolitis, and 2% with intestinal perforation.^[29]

Wu and colleagues developed a diagnostic scoring system for elements of the patient’s history. Risk factors identified include age younger than 3 years, failed or delayed passage of meconium, and male sex. Scaled scores indicating Hirschsprung disease predict the disease with a sensitivity of 83%, specificity of 90%, and accuracy of 86%.^[44]

Physical Examination

Physical examination in the newborn period is often nondiagnostic; however, it may reveal a distended abdomen and/or anal spasm. In older children, abdominal distention may result from the inability to release flatus.

A low imperforate anus with a perineal orifice may have a similar presentation to that of a patient with Hirschsprung disease. Meticulous physical examination is compulsory to distinguish the two.

Differential Diagnoses

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Media Gallery

A: Plain abdominal radiograph showing a transition zone (PARTZ) at the rectosigmoid. B: Plain abdominal radiograph showing a PARTZ at the midsigmoid. C: Plain abdominal radiograph showing a PARTZ at the descending colon. D: Contrast enema showing a contrast enema transition zone (CETZ) at the rectosigmoid. E: Contrast enema showing a CETZ at the midsigmoid. F: Contrast enema showing a CETZ at descending colon. Images courtesy of Pratap A, Gupta DK, Tiwari A, et al. BMC Pediatr. 2007 Jan 27;7:5. [Open access.] PMID: 17257439, PMCID: PMC1790893.
Hirschsprung disease. Contrast enema demonstrating transition zone in the rectosigmoid region.

of 2

Author

Justin P Wagner, MD Resident Physician, Department of Surgery, University of California, Los Angeles, David Geffen School of Medicine

Justin P Wagner, MD is a member of the following medical societies: American College of Surgeons, American Pediatric Surgical Association, Association for Academic Surgery, Association for Surgical Education, Association of Program Directors in Surgery

Disclosure: Nothing to disclose.

Coauthor(s)

Shant Shekherdimian, MD, MPH Resident Physician, Department of Pediatric Surgery, Hospital for Sick Children; Toronto, Ontario, Canada

Disclosure: Nothing to disclose.

Steven L Lee, MD Chief of Pediatric Surgery, Harbor-UCLA Medical Center; Associate Clinical Professor of Surgery and Pediatrics; University of California, Los Angeles, David Geffen School of Medicine

Steven L Lee, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American College of Surgeons, American Pediatric Surgical Association, Association for Academic Surgery, Society of Laparoendoscopic Surgeons, International Pediatric Endosurgery Group, Pacific Association of Pediatric Surgery, Society of American Gastrointestinal and Endoscopic Surgeons

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Chief Editor

BS Anand, MD Professor, Department of Internal Medicine, Division of Gastroenterology, Baylor College of Medicine

BS Anand, MD is a member of the following medical societies: American Association for the Study of Liver Diseases, American College of Gastroenterology, American Gastroenterological Association, American Society for Gastrointestinal Endoscopy

Disclosure: Nothing to disclose.

Additional Contributors

Vivek V Gumaste, MD Associate Professor of Medicine, Mount Sinai School of Medicine of New York University; Adjunct Clinical Assistant, Mount Sinai Hospital; Director, Division of Gastroenterology, City Hospital Center at Elmhurst; Program Director of GI Fellowship (Independent Program); Regional Director of Gastroenterology, Queens Health Network

Vivek V Gumaste, MD is a member of the following medical societies: American College of Gastroenterology, American Gastroenterological Association

Disclosure: Nothing to disclose.

Acknowledgements

Jeffrey J DuBois, MD Chief of Children's Surgical Services, Division of Pediatric Surgery, Kaiser Permanente, Women and Children's Center, Roseville Medical Center

Jeffrey J DuBois, MD, is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American College of Surgeons, American Pediatric Surgical Association, and California Medical Association

Disclosure: Nothing to disclose.