link
Bookmarks
Hirschsprung Disease
Steven J. Kraus, MD
To access 4,300 diagnoses written by the world's leading experts in radiology, please log in or subscribe.Log inSubscribe
0
4
3
2

KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Clinical Issues

          • Diagnostic Checklist

            TERMINOLOGY

            • Abbreviations

              • Hirschsprung disease (HD)
            • Synonyms

              • Colonic aganglionosis
            • Definitions

              • Congenital anomaly of enteric nervous system
                • Absence of ganglion cells in myenteric & submucosal plexus of intestine
                  • Lack of peristalsis → functional bowel obstruction
                • Aganglionic segment extends retrograde from anus for variable length with gradual transition to innervated 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)

            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

                                            1. Aworanti OM et al: Does functional outcome improve with time postsurgery for Hirschsprung disease? Eur J Pediatr Surg. 26(2):192-9, 2016
                                            2. 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
                                            3. 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
                                            4. 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
                                            5. Gosain A: Established and emerging concepts in Hirschsprung's-associated enterocolitis. Pediatr Surg Int. 32(4):313-20, 2016
                                            6. Muise ED et al: A comparison of suction and full-thickness rectal biopsy in children. J Surg Res. 201(1):149-55, 2016
                                            7. Stewart CL et al: Rectal biopsies for Hirschsprung disease: patient characteristics by diagnosis and attending specialty. J Pediatr Surg. 51(4):573-6, 2016
                                            8. 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
                                            9. Diaz DN et al: Atresia of the colon associated with Hirschsprung's disease. Arch Iran Med. 18(5):322-3, 2015
                                            10. 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
                                            11. Putnam LR et al: The utility of the contrast enema in neonates with suspected Hirschsprung disease. J Pediatr Surg. 50(6):963-6, 2015
                                            12. Duess JW et al: Prevalence of Hirschsprung's disease in premature infants: a systematic review. Pediatr Surg Int. 30(8):791-5, 2014
                                            13. Kim HS et al: Renal excretion of water-soluble contrast media after enema in the neonatal period. Pediatr Neonatol. 55(4):256-61, 2014
                                            14. Langer JC: Hirschsprung disease. Curr Opin Pediatr. 25(3):368-74, 2013
                                            15. 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
                                            16. 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
                                            17. 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
                                            18. Puri P et al: Variants of Hirschsprung disease. Semin Pediatr Surg. 21(4):310-8, 2012
                                            19. 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
                                            20. 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
                                            21. O'Donnell AM et al: Skip segment Hirschsprung's disease: a systematic review. Pediatr Surg Int. 26(11):1065-9, 2010
                                            22. Levitt MA et al: Hirschsprung disease and fecal incontinence: diagnostic and management strategies. J Pediatr Surg. 44(1):271-7; discussion 277, 2009
                                            23. Moore SW et al: Clinical and genetic differences in total colonic aganglionosis in Hirschsprung's disease. J Pediatr Surg. 44(10):1899-903, 2009
                                            24. Haricharan RN et al: Hirschsprung disease. Semin Pediatr Surg. 17(4):266-75, 2008
                                            25. Stranzinger E et al: Imaging of total colonic Hirschsprung disease. Pediatr Radiol. 38(11):1162-70, 2008
                                            26. Jamieson DH et al: Does the transition zone reliably delineate aganglionic bowel in Hirschsprung's disease? Pediatr Radiol. 34(10):811-5, 2004
                                            27. 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
                                            28. Teitelbaum DH et al: Primary pull-through for Hirschsprung's disease. Semin Neonatol. 8(3):233-41, 2003
                                            29. Markham LA: Total colonic aganglionosis: a case study. Neonatal Netw. 20(2):23-9, 2001
                                            30. Rogers J: Hirschsprung's disease: diagnosis and management in children. Br J Nurs. 10(10):640-9, 2001
                                            31. 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
                                            32. Lall A et al: Neonatal Hirschsprung's disease. Indian J Pediatr. 67(8):583-8, 2000
                                            33. Martucciello G et al: Pathogenesis of Hirschsprung's disease. J Pediatr Surg. 35(7):1017-25, 2000
                                            34. 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
                                            35. Bloom DA et al: Allergic colitis: a mimic of Hirschsprung disease. Pediatr Radiol. 29(1):37-41, 1999
                                            36. Croaker GD et al: Congenital central hypoventilation syndrome and Hirschsprung's disease. Arch Dis Child. 78(4):316-22, 1998
                                            37. Buonomo C: Neonatal gastrointestinal emergencies. Radiol Clin North Am. 35(4):845-64, 1997
                                            38. Janik JP et al: Ileal atresia with total colonic aganglionosis. J Pediatr Surg. 32(10):1502-3, 1997
                                            39. O'Donovan AN et al: Diagnosis of Hirschsprung's disease. AJR Am J Roentgenol. 167(2):517-20, 1996
                                            40. Martin LW et al: Hirschsprung's disease with skip area (segmental aganglionosis). J Pediatr Surg. 14(6):686-7, 1979
                                            41. Ryndina AM et al: [Use of concentrated iodinol solution and E-aminocaproic acid in chronic tonsillitis.] Vestn Otorinolaringol. 35(3):61-4, 1973
                                            42. Berdon WE et al: The Roentgenographic diagnosis of Hirschsprung's disease in infancy. Am J Roentgenol Radium Ther Nucl Med. 93:432-46, 1965
                                            Related Anatomy
                                            Loading...
                                            Related Differential Diagnoses
                                            Loading...
                                            References
                                            Tables

                                            Tables

                                            KEY FACTS

                                            • Terminology

                                              • Imaging

                                                • Top Differential Diagnoses

                                                  • Clinical Issues

                                                    • Diagnostic Checklist

                                                      TERMINOLOGY

                                                      • Abbreviations

                                                        • Hirschsprung disease (HD)
                                                      • Synonyms

                                                        • Colonic aganglionosis
                                                      • Definitions

                                                        • Congenital anomaly of enteric nervous system
                                                          • Absence of ganglion cells in myenteric & submucosal plexus of intestine
                                                            • Lack of peristalsis → functional bowel obstruction
                                                          • Aganglionic segment extends retrograde from anus for variable length with gradual transition to innervated 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)

                                                      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

                                                                                      1. Aworanti OM et al: Does functional outcome improve with time postsurgery for Hirschsprung disease? Eur J Pediatr Surg. 26(2):192-9, 2016
                                                                                      2. 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
                                                                                      3. 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
                                                                                      4. 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
                                                                                      5. Gosain A: Established and emerging concepts in Hirschsprung's-associated enterocolitis. Pediatr Surg Int. 32(4):313-20, 2016
                                                                                      6. Muise ED et al: A comparison of suction and full-thickness rectal biopsy in children. J Surg Res. 201(1):149-55, 2016
                                                                                      7. Stewart CL et al: Rectal biopsies for Hirschsprung disease: patient characteristics by diagnosis and attending specialty. J Pediatr Surg. 51(4):573-6, 2016
                                                                                      8. 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
                                                                                      9. Diaz DN et al: Atresia of the colon associated with Hirschsprung's disease. Arch Iran Med. 18(5):322-3, 2015
                                                                                      10. 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
                                                                                      11. Putnam LR et al: The utility of the contrast enema in neonates with suspected Hirschsprung disease. J Pediatr Surg. 50(6):963-6, 2015
                                                                                      12. Duess JW et al: Prevalence of Hirschsprung's disease in premature infants: a systematic review. Pediatr Surg Int. 30(8):791-5, 2014
                                                                                      13. Kim HS et al: Renal excretion of water-soluble contrast media after enema in the neonatal period. Pediatr Neonatol. 55(4):256-61, 2014
                                                                                      14. Langer JC: Hirschsprung disease. Curr Opin Pediatr. 25(3):368-74, 2013
                                                                                      15. 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
                                                                                      16. 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
                                                                                      17. 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
                                                                                      18. Puri P et al: Variants of Hirschsprung disease. Semin Pediatr Surg. 21(4):310-8, 2012
                                                                                      19. 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
                                                                                      20. 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
                                                                                      21. O'Donnell AM et al: Skip segment Hirschsprung's disease: a systematic review. Pediatr Surg Int. 26(11):1065-9, 2010
                                                                                      22. Levitt MA et al: Hirschsprung disease and fecal incontinence: diagnostic and management strategies. J Pediatr Surg. 44(1):271-7; discussion 277, 2009
                                                                                      23. Moore SW et al: Clinical and genetic differences in total colonic aganglionosis in Hirschsprung's disease. J Pediatr Surg. 44(10):1899-903, 2009
                                                                                      24. Haricharan RN et al: Hirschsprung disease. Semin Pediatr Surg. 17(4):266-75, 2008
                                                                                      25. Stranzinger E et al: Imaging of total colonic Hirschsprung disease. Pediatr Radiol. 38(11):1162-70, 2008
                                                                                      26. Jamieson DH et al: Does the transition zone reliably delineate aganglionic bowel in Hirschsprung's disease? Pediatr Radiol. 34(10):811-5, 2004
                                                                                      27. 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
                                                                                      28. Teitelbaum DH et al: Primary pull-through for Hirschsprung's disease. Semin Neonatol. 8(3):233-41, 2003
                                                                                      29. Markham LA: Total colonic aganglionosis: a case study. Neonatal Netw. 20(2):23-9, 2001
                                                                                      30. Rogers J: Hirschsprung's disease: diagnosis and management in children. Br J Nurs. 10(10):640-9, 2001
                                                                                      31. 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
                                                                                      32. Lall A et al: Neonatal Hirschsprung's disease. Indian J Pediatr. 67(8):583-8, 2000
                                                                                      33. Martucciello G et al: Pathogenesis of Hirschsprung's disease. J Pediatr Surg. 35(7):1017-25, 2000
                                                                                      34. 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
                                                                                      35. Bloom DA et al: Allergic colitis: a mimic of Hirschsprung disease. Pediatr Radiol. 29(1):37-41, 1999
                                                                                      36. Croaker GD et al: Congenital central hypoventilation syndrome and Hirschsprung's disease. Arch Dis Child. 78(4):316-22, 1998
                                                                                      37. Buonomo C: Neonatal gastrointestinal emergencies. Radiol Clin North Am. 35(4):845-64, 1997
                                                                                      38. Janik JP et al: Ileal atresia with total colonic aganglionosis. J Pediatr Surg. 32(10):1502-3, 1997
                                                                                      39. O'Donovan AN et al: Diagnosis of Hirschsprung's disease. AJR Am J Roentgenol. 167(2):517-20, 1996
                                                                                      40. Martin LW et al: Hirschsprung's disease with skip area (segmental aganglionosis). J Pediatr Surg. 14(6):686-7, 1979
                                                                                      41. Ryndina AM et al: [Use of concentrated iodinol solution and E-aminocaproic acid in chronic tonsillitis.] Vestn Otorinolaringol. 35(3):61-4, 1973
                                                                                      42. Berdon WE et al: The Roentgenographic diagnosis of Hirschsprung's disease in infancy. Am J Roentgenol Radium Ther Nucl Med. 93:432-46, 1965