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KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Clinical Issues
Diagnostic Checklist
TERMINOLOGY
Synonyms
- Colonic aganglionosis
Definitions
- Hirschsprung disease (HD): Congenital anomaly of enteric nervous system
- Absence of ganglion cells in myenteric & submucosal plexus of intestine
- Lack of muscle relaxation → functional bowel obstruction
- Aganglionic segment extends retrograde from anus for variable length with gradual transition to innervated proximal colon
- Rectosigmoid: Short-segment HD (70-80%)
- Proximal to rectosigmoid: Long-segment HD (15-25%)
- Entire colon: Total colonic HD (4-13%)
- Colon & small bowel (SB): Total intestinal HD (very rare)
- Just above anorectal verge: Ultrashort-segment HD (very rare)
- Absence of ganglion cells in myenteric & submucosal plexus of intestine
- Hirschsprung disease (HD): Congenital anomaly of enteric nervous system
IMAGING
General Features
Radiographic Findings
Fluoroscopic Findings
CT Findings
Ultrasonographic Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Gross Pathologic & Surgical Features
Microscopic Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
- Tsitsiou Y et al: Diagnostic decision-making tool for imaging term neonatal bowel obstruction. Clin Radiol. 76(3):163-71, 2021
- Baad M et al: Diagnostic performance and role of the contrast enema for low intestinal obstruction in neonates. Pediatr Surg Int. 36(9):1093-101, 2020
- Kapur RP et al: Postoperative pullthrough obstruction in Hirschsprung disease: etiologies and diagnosis. Pediatr Dev Pathol. 23(1):40-59, 2020
- Vlok SSC et al: Accuracy of colonic mucosal patterns at contrast enema for diagnosis of Hirschsprung disease. Pediatr Radiol. 50(6):810-6, 2020
- Yan J et al: Barium enema findings in total colonic aganglionosis: a single-center, retrospective study. BMC Pediatr. 20(1):499, 2020
- Lourenção PLTA et al: Barium enema revisited in the workup for the diagnosis of Hirschsprung's disease. J Pediatr Gastroenterol Nutr. 68(4):e62-6, 2019
- Das K et al: Hirschsprung disease - current diagnosis and management. Indian J Pediatr. 84(8):618-23, 2017
- Aworanti OM et al: Does functional outcome improve with time postsurgery for Hirschsprung disease? Eur J Pediatr Surg. 26(2):192-9, 2016
- Carroll AG et al: Comparative effectiveness of imaging modalities for the diagnosis of intestinal obstruction in neonates and infants:: a critically appraised topic. Acad Radiol. 23(5):559-68, 2016
- Coe A et al: Distal rectal skip-segment Hirschsprung disease and the potential for false-negative diagnosis. Pediatr Dev Pathol. 19(2):123-31, 2016
- Frongia G et al: Contrast enema for Hirschsprung disease investigation: diagnostic accuracy and validity for subsequent diagnostic and surgical planning. Eur J Pediatr Surg. 26(2):207-14, 2016
- Gosain A: Established and emerging concepts in Hirschsprung's-associated enterocolitis. Pediatr Surg Int. 32(4):313-20, 2016
- Muise ED et al: A comparison of suction and full-thickness rectal biopsy in children. J Surg Res. 201(1):149-55, 2016
- Stewart CL et al: Rectal biopsies for Hirschsprung disease: patient characteristics by diagnosis and attending specialty. J Pediatr Surg. 51(4):573-6, 2016
- Alehossein M et al: Diagnostic accuracy of radiologic scoring system for evaluation of suspicious hirschsprung disease in children. Iran J Radiol. 12(2):e12451, 2015
- Diaz DN et al: Atresia of the colon associated with Hirschsprung's disease. Arch Iran Med. 18(5):322-3, 2015
- Downey EC et al: Hirschsprung disease in the premature newborn: a population based study and 40-year single center experience. J Pediatr Surg. 50(1):123-5, 2015
- Putnam LR et al: The utility of the contrast enema in neonates with suspected Hirschsprung disease. J Pediatr Surg. 50(6):963-6, 2015
- Duess JW et al: Prevalence of Hirschsprung's disease in premature infants: a systematic review. Pediatr Surg Int. 30(8):791-5, 2014
- Kim HS et al: Renal excretion of water-soluble contrast media after enema in the neonatal period. Pediatr Neonatol. 55(4):256-61, 2014
- Langer JC: Hirschsprung disease. Curr Opin Pediatr. 25(3):368-74, 2013
- Vult von Steyern K et al: Visualisation of the rectoanal inhibitory reflex with a modified contrast enema in children with suspected Hirschsprung disease. Pediatr Radiol. 43(8):950-7, 2013
- Garrett KM et al: Contrast enema findings in patients presenting with poor functional outcome after primary repair for Hirschsprung disease. Pediatr Radiol. 42(9):1099-106, 2012
- Levitt MA et al: The Hirschsprungs patient who is soiling after what was considered a "successful" pull-through. Semin Pediatr Surg. 21(4):344-53, 2012
- Puri P et al: Variants of Hirschsprung disease. Semin Pediatr Surg. 21(4):310-8, 2012
- Singh S et al: Six-year retrospective analysis of colonic perforation in neonates and infants: single centre experience. Afr J Paediatr Surg. 9(2):102-5, 2012
- Levitt MA et al: Evaluation and treatment of the patient with Hirschsprung disease who is not doing well after a pull-through procedure. Semin Pediatr Surg. 19(2):146-53, 2010
- O'Donnell AM et al: Skip segment Hirschsprung's disease: a systematic review. Pediatr Surg Int. 26(11):1065-9, 2010
- Levitt MA et al: Hirschsprung disease and fecal incontinence: diagnostic and management strategies. J Pediatr Surg. 44(1):271-7; discussion 277, 2009
- Moore SW et al: Clinical and genetic differences in total colonic aganglionosis in Hirschsprung's disease. J Pediatr Surg. 44(10):1899-903, 2009
- Haricharan RN et al: Hirschsprung disease. Semin Pediatr Surg. 17(4):266-75, 2008
- Stranzinger E et al: Imaging of total colonic Hirschsprung disease. Pediatr Radiol. 38(11):1162-70, 2008
- Jamieson DH et al: Does the transition zone reliably delineate aganglionic bowel in Hirschsprung's disease? Pediatr Radiol. 34(10):811-5, 2004
- Lewis NA et al: Diagnosing Hirschsprung's disease: increasing the odds of a positive rectal biopsy result. J Pediatr Surg. 38(3):412-6; discussion 412-6, 2003
- Teitelbaum DH et al: Primary pull-through for Hirschsprung's disease. Semin Neonatol. 8(3):233-41, 2003
- Markham LA: Total colonic aganglionosis: a case study. Neonatal Netw. 20(2):23-9, 2001
- Rogers J: Hirschsprung's disease: diagnosis and management in children. Br J Nurs. 10(10):640-9, 2001
- Shanske A et al: Hirschsprung disease in an infant with a contiguous gene syndrome of chromosome 13. Am J Med Genet. 102(3):231-6, 2001
- Lall A et al: Neonatal Hirschsprung's disease. Indian J Pediatr. 67(8):583-8, 2000
- Martucciello G et al: Pathogenesis of Hirschsprung's disease. J Pediatr Surg. 35(7):1017-25, 2000
- Valioulis I et al: A complex chromosomal rearrangement associated with Hirschsprung's disease. A case report with a review of the literature. Eur J Pediatr Surg. 10(3):207-11, 2000
- Bloom DA et al: Allergic colitis: a mimic of Hirschsprung disease. Pediatr Radiol. 29(1):37-41, 1999
- Croaker GD et al: Congenital central hypoventilation syndrome and Hirschsprung's disease. Arch Dis Child. 78(4):316-22, 1998
- Buonomo C: Neonatal gastrointestinal emergencies. Radiol Clin North Am. 35(4):845-64, 1997
- Janik JP et al: Ileal atresia with total colonic aganglionosis. J Pediatr Surg. 32(10):1502-3, 1997
- O'Donovan AN et al: Diagnosis of Hirschsprung's disease. AJR Am J Roentgenol. 167(2):517-20, 1996
- Martin LW et al: Hirschsprung's disease with skip area (segmental aganglionosis). J Pediatr Surg. 14(6):686-7, 1979
- Ryndina AM et al: [Use of concentrated iodinol solution and E-aminocaproic acid in chronic tonsillitis.] Vestn Otorinolaringol. 35(3):61-4, 1973
- Berdon WE et al: The Roentgenographic diagnosis of Hirschsprung's disease in infancy. Am J Roentgenol Radium Ther Nucl Med. 93:432-46, 1965
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References
Tables
Tables
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Clinical Issues
Diagnostic Checklist
TERMINOLOGY
Synonyms
- Colonic aganglionosis
Definitions
- Hirschsprung disease (HD): Congenital anomaly of enteric nervous system
- Absence of ganglion cells in myenteric & submucosal plexus of intestine
- Lack of muscle relaxation → functional bowel obstruction
- Aganglionic segment extends retrograde from anus for variable length with gradual transition to innervated proximal colon
- Rectosigmoid: Short-segment HD (70-80%)
- Proximal to rectosigmoid: Long-segment HD (15-25%)
- Entire colon: Total colonic HD (4-13%)
- Colon & small bowel (SB): Total intestinal HD (very rare)
- Just above anorectal verge: Ultrashort-segment HD (very rare)
- Absence of ganglion cells in myenteric & submucosal plexus of intestine
- Hirschsprung disease (HD): Congenital anomaly of enteric nervous system
IMAGING
General Features
Radiographic Findings
Fluoroscopic Findings
CT Findings
Ultrasonographic Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Gross Pathologic & Surgical Features
Microscopic Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
- Tsitsiou Y et al: Diagnostic decision-making tool for imaging term neonatal bowel obstruction. Clin Radiol. 76(3):163-71, 2021
- Baad M et al: Diagnostic performance and role of the contrast enema for low intestinal obstruction in neonates. Pediatr Surg Int. 36(9):1093-101, 2020
- Kapur RP et al: Postoperative pullthrough obstruction in Hirschsprung disease: etiologies and diagnosis. Pediatr Dev Pathol. 23(1):40-59, 2020
- Vlok SSC et al: Accuracy of colonic mucosal patterns at contrast enema for diagnosis of Hirschsprung disease. Pediatr Radiol. 50(6):810-6, 2020
- Yan J et al: Barium enema findings in total colonic aganglionosis: a single-center, retrospective study. BMC Pediatr. 20(1):499, 2020
- Lourenção PLTA et al: Barium enema revisited in the workup for the diagnosis of Hirschsprung's disease. J Pediatr Gastroenterol Nutr. 68(4):e62-6, 2019
- Das K et al: Hirschsprung disease - current diagnosis and management. Indian J Pediatr. 84(8):618-23, 2017
- Aworanti OM et al: Does functional outcome improve with time postsurgery for Hirschsprung disease? Eur J Pediatr Surg. 26(2):192-9, 2016
- Carroll AG et al: Comparative effectiveness of imaging modalities for the diagnosis of intestinal obstruction in neonates and infants:: a critically appraised topic. Acad Radiol. 23(5):559-68, 2016
- Coe A et al: Distal rectal skip-segment Hirschsprung disease and the potential for false-negative diagnosis. Pediatr Dev Pathol. 19(2):123-31, 2016
- Frongia G et al: Contrast enema for Hirschsprung disease investigation: diagnostic accuracy and validity for subsequent diagnostic and surgical planning. Eur J Pediatr Surg. 26(2):207-14, 2016
- Gosain A: Established and emerging concepts in Hirschsprung's-associated enterocolitis. Pediatr Surg Int. 32(4):313-20, 2016
- Muise ED et al: A comparison of suction and full-thickness rectal biopsy in children. J Surg Res. 201(1):149-55, 2016
- Stewart CL et al: Rectal biopsies for Hirschsprung disease: patient characteristics by diagnosis and attending specialty. J Pediatr Surg. 51(4):573-6, 2016
- Alehossein M et al: Diagnostic accuracy of radiologic scoring system for evaluation of suspicious hirschsprung disease in children. Iran J Radiol. 12(2):e12451, 2015
- Diaz DN et al: Atresia of the colon associated with Hirschsprung's disease. Arch Iran Med. 18(5):322-3, 2015
- Downey EC et al: Hirschsprung disease in the premature newborn: a population based study and 40-year single center experience. J Pediatr Surg. 50(1):123-5, 2015
- Putnam LR et al: The utility of the contrast enema in neonates with suspected Hirschsprung disease. J Pediatr Surg. 50(6):963-6, 2015
- Duess JW et al: Prevalence of Hirschsprung's disease in premature infants: a systematic review. Pediatr Surg Int. 30(8):791-5, 2014
- Kim HS et al: Renal excretion of water-soluble contrast media after enema in the neonatal period. Pediatr Neonatol. 55(4):256-61, 2014
- Langer JC: Hirschsprung disease. Curr Opin Pediatr. 25(3):368-74, 2013
- Vult von Steyern K et al: Visualisation of the rectoanal inhibitory reflex with a modified contrast enema in children with suspected Hirschsprung disease. Pediatr Radiol. 43(8):950-7, 2013
- Garrett KM et al: Contrast enema findings in patients presenting with poor functional outcome after primary repair for Hirschsprung disease. Pediatr Radiol. 42(9):1099-106, 2012
- Levitt MA et al: The Hirschsprungs patient who is soiling after what was considered a "successful" pull-through. Semin Pediatr Surg. 21(4):344-53, 2012
- Puri P et al: Variants of Hirschsprung disease. Semin Pediatr Surg. 21(4):310-8, 2012
- Singh S et al: Six-year retrospective analysis of colonic perforation in neonates and infants: single centre experience. Afr J Paediatr Surg. 9(2):102-5, 2012
- Levitt MA et al: Evaluation and treatment of the patient with Hirschsprung disease who is not doing well after a pull-through procedure. Semin Pediatr Surg. 19(2):146-53, 2010
- O'Donnell AM et al: Skip segment Hirschsprung's disease: a systematic review. Pediatr Surg Int. 26(11):1065-9, 2010
- Levitt MA et al: Hirschsprung disease and fecal incontinence: diagnostic and management strategies. J Pediatr Surg. 44(1):271-7; discussion 277, 2009
- Moore SW et al: Clinical and genetic differences in total colonic aganglionosis in Hirschsprung's disease. J Pediatr Surg. 44(10):1899-903, 2009
- Haricharan RN et al: Hirschsprung disease. Semin Pediatr Surg. 17(4):266-75, 2008
- Stranzinger E et al: Imaging of total colonic Hirschsprung disease. Pediatr Radiol. 38(11):1162-70, 2008
- Jamieson DH et al: Does the transition zone reliably delineate aganglionic bowel in Hirschsprung's disease? Pediatr Radiol. 34(10):811-5, 2004
- Lewis NA et al: Diagnosing Hirschsprung's disease: increasing the odds of a positive rectal biopsy result. J Pediatr Surg. 38(3):412-6; discussion 412-6, 2003
- Teitelbaum DH et al: Primary pull-through for Hirschsprung's disease. Semin Neonatol. 8(3):233-41, 2003
- Markham LA: Total colonic aganglionosis: a case study. Neonatal Netw. 20(2):23-9, 2001
- Rogers J: Hirschsprung's disease: diagnosis and management in children. Br J Nurs. 10(10):640-9, 2001
- Shanske A et al: Hirschsprung disease in an infant with a contiguous gene syndrome of chromosome 13. Am J Med Genet. 102(3):231-6, 2001
- Lall A et al: Neonatal Hirschsprung's disease. Indian J Pediatr. 67(8):583-8, 2000
- Martucciello G et al: Pathogenesis of Hirschsprung's disease. J Pediatr Surg. 35(7):1017-25, 2000
- Valioulis I et al: A complex chromosomal rearrangement associated with Hirschsprung's disease. A case report with a review of the literature. Eur J Pediatr Surg. 10(3):207-11, 2000
- Bloom DA et al: Allergic colitis: a mimic of Hirschsprung disease. Pediatr Radiol. 29(1):37-41, 1999
- Croaker GD et al: Congenital central hypoventilation syndrome and Hirschsprung's disease. Arch Dis Child. 78(4):316-22, 1998
- Buonomo C: Neonatal gastrointestinal emergencies. Radiol Clin North Am. 35(4):845-64, 1997
- Janik JP et al: Ileal atresia with total colonic aganglionosis. J Pediatr Surg. 32(10):1502-3, 1997
- O'Donovan AN et al: Diagnosis of Hirschsprung's disease. AJR Am J Roentgenol. 167(2):517-20, 1996
- Martin LW et al: Hirschsprung's disease with skip area (segmental aganglionosis). J Pediatr Surg. 14(6):686-7, 1979
- Ryndina AM et al: [Use of concentrated iodinol solution and E-aminocaproic acid in chronic tonsillitis.] Vestn Otorinolaringol. 35(3):61-4, 1973
- Berdon WE et al: The Roentgenographic diagnosis of Hirschsprung's disease in infancy. Am J Roentgenol Radium Ther Nucl Med. 93:432-46, 1965
