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Skip segment Hirschsprung’s disease: a systematic review

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Abstract

Purpose

Hirschsprung’s disease is characterised by the congenital absence of ganglion cells beginning in the distal rectum and extending proximally for varying distances. ‘Zonal aganglionosis’ is a phenomenon involving a zone of aganglionosis occurring within normally innervated intestine. ‘Skip segment’ Hirschsprung’s disease (SSHD) involves a ‘skip area’ of normally ganglionated intestine, surrounded proximally and distally by aganglionosis. While Hirschsprung’s disease is believed to be the result of incomplete craniocaudal migration of neural crest-derived cells, the occurence of SSHD has no clear embryological explanation. The aim of this study was to perform a systematic review of SSHD, reported in the literature between 1954 and 2009, in order to determine the clinical characteristics of this rare entity and its significance.

Methods

The first reported case of SSHD was published in 1954. A systematic review of SSHD cases in the literature, from 1954 to 2009, was carried out using the electronic database ‘Pubmed’. Detailed information was recorded regarding the age, gender, presenting symptoms and location of the skip segment in each patient.

Results

24 cases of SSHD have been reported in the literature to date. 18/24 (75%) of these cases were males and 6/24 (25%) were females. Of these, 22/24 (92%) were cases of total colonic aganglionosis (TCA), and 2/24 (8%) were rectosigmoid Hirschsprung’s disease. Of the 22 TCA cases, 9 (41%) had a skip segment in the transverse colon, 6 (27%) in the ascending colon, 2 (9%) in the caecum and 5 (23%) had multiple skip segments. In both rectosigmoid Hirschsprung’s disease cases, the skip segment was in the sigmoid colon. Overall, the length of the skip segment was variable, with the entire transverse colon ganglionated in some cases.

Conclusion

SSHD occurs predominantly in patients with TCA. The existence of a skip area of normally innervated colon in TCA may influence surgical management, enabling surgeons to preserve and use the ganglionated skip area during pull-through operations.

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References

  1. Haney PJ (1982) Zonal colonic aganglionosis. Pediatr Radiol 12:258–261

    Article  CAS  PubMed  Google Scholar 

  2. MacIver AG, Whitehead R (1972) Zonal colonic aganglionosis, a variant of Hirschsprung’s disease. Arch Dis Child 47:233–237

    Article  CAS  PubMed  Google Scholar 

  3. Seldenrijk CA (1986) Zonal aganglionosis: an enzyme and immunohistochemical study of two cases. Virchows Arch A Pathol Anat 410:75–81

    Article  CAS  Google Scholar 

  4. Kapur RP (1995) Hypothesis: pathogenesis of skip areas of long segment Hirschsprung’s disease. Pediatr Pathol Lab Med 15:23–37

    CAS  PubMed  Google Scholar 

  5. Martin LW et al (1979) Hirschsprung’s disease with skip area (segmental aganglionosis). J Pediatr Surg 14(6):686–687

    Article  CAS  PubMed  Google Scholar 

  6. Sprinz H, Cohen A, Heaton LD (1961) Hirschsprung’s disease with skip area. Ann Surg 153(1):143–148

    CAS  PubMed  Google Scholar 

  7. Keefer GP, Mokrohisky JF (1954) Congenital megacolon (Hirschsprung’s disease). Radiology 63:157–175

    CAS  PubMed  Google Scholar 

  8. Taguchi T et al (1983) Double zonal aganglionosis with a skipped oligoganglionic ascending colon. Z Kinderchir 38:312–315

    CAS  PubMed  Google Scholar 

  9. Yunis E, Sieber WK, Akers DR (1983) Does zonal agnaglionosis really exist? Pediatr Pathol 1:33–49

    Article  CAS  PubMed  Google Scholar 

  10. De Chadarevian JP, Slim M, Akel S (1982) Double zonal aganglionosis in long segment Hirschsprung’s disease with a ‘skip area’ in transverse colon. J Pediatr Surg 17(2):195–197

    Article  PubMed  Google Scholar 

  11. Anderson KD, Chandra R (1986) Segmental aganglionosis of the appendix. J Pediatr Surg 21(10):852–854

    Article  CAS  PubMed  Google Scholar 

  12. Yang HY et al (2005) Clinical study of multiple zonal aganglionosis in long segment Hirschsprung’s disease. Zhonghua Yi Xue Za Zhi 85(39):2772–2774

    PubMed  Google Scholar 

  13. Ziad F et al (2006) Clinicopathological features in 102 cases of Hirschsprung’s disease. Ann Saudi Med 26(3):200–204

    PubMed  Google Scholar 

  14. Oshio T (2008) Imperforate anus, malrotation, and Hirschsprung’s disease with double zonal aganglionosis: an extremely rare combination. J Pediatr Surg 43:222–226

    Article  PubMed  Google Scholar 

  15. Puri P, O’Donnell A (2010) Skip segment Hirschsprung’s disease: a rare phenomenon, in European Union Paediatric Surgery Association 2010 Meeting. Berne, Switzerland

    Google Scholar 

  16. Furness J, Costa M (1987) The enteric nervous system. Churchill Livingstone, New York

    Google Scholar 

  17. Gershon MD (1995) Neural crest development. Do developing enteric neurons need endothelins? Curr Biol 5(6):601–604

    Article  CAS  PubMed  Google Scholar 

  18. Gershon MD, Kirchgessner AL, Wade PR (1994) Functional anatomy of the enteric nervous system. In: Johnson LR (ed) Physiology of the gastrointestinal tract, vol 1. Raven Press, New York, pp 381–442

    Google Scholar 

  19. Costa M et al (1996) Neurochemical classification of myenteric neurons in the guinea-pig ileum. Neuroscience 75:949–967

    Article  CAS  PubMed  Google Scholar 

  20. Sang Q, Young HM (1996) Chemical coding of neurons in myenteric plexus and external muscle of the small and large intestine of the mouse. Cell Tissue Res 284:39–53

    Article  CAS  PubMed  Google Scholar 

  21. Goyal RK, Hirano I (1996) The enteric nervous system. N Engl J Med 334(17):1106–1115

    Article  CAS  PubMed  Google Scholar 

  22. Yntema CL, Hammond WS (1954) The origin of intrinsic ganglia of trunk viscera from vagal neural crest in the chick embryo. J Comp Neurol 101:515–542

    Article  CAS  PubMed  Google Scholar 

  23. Yntema CL, Hammond WS (1955) Experiments on the origin and development of the sacral autonomic nerves in the chick embryo. J Exp Zool 129:375–414

    Article  Google Scholar 

  24. Le Douarin NM, Teillet MA (1973) The migration of neural crest cells to the walls of the digestive tract in the avian embryo. J Embryol Exp Biol 30:31–48

    CAS  Google Scholar 

  25. Le Douarin NM, Teillet MA (1974) Experimental analysis of the migration and differentiation of neuroblasts of the autonomic nervous system and neuroectodermal mesenchymal derivatives, using a biological cell marking technique. Dev Biol 41:162–184

    Article  CAS  PubMed  Google Scholar 

  26. Pomeranz HD, Gershon MD (1990) Colonization of the avian hindgut by cells derived from the sacral neural crest. Dev Biol 137:378–394

    Article  CAS  PubMed  Google Scholar 

  27. Pomeranz HD, Rothman TP, Gershon MD (1991) Colonization of the post-umbilical bowel by cells derived from the sacral neural crest: direct tracing of cell migration using an intercalated probe and a replication-deficient retrovirus. Development 111:647–655

    CAS  PubMed  Google Scholar 

  28. Serbedzija GN et al (1991) Vital dye labelling demonstrates a sacral neural crest contribution to the enteric nervous system of chick and mouse embryos. Development 111:857–866

    CAS  PubMed  Google Scholar 

  29. Allan IJ, Newgreen DF (1980) The origin and differentiation of enteric neurons of the intestine of the fowl embryo. Am J Anat 157:137–154

    Article  CAS  PubMed  Google Scholar 

  30. Meijers JHC et al (1989) A model for aganglionosis in the chicken embryo. J Paediatr Surg 24:557–561

    Article  CAS  Google Scholar 

  31. Fujimoto T et al (1989) A study of the extracellular matrix protein as the migration pathway of neural crest cells in the gut: analysis in human embryos with special reference to the pathogenesis of Hirschsprung’s disease. J Paediatr Surg 24:550–556

    Article  CAS  Google Scholar 

  32. Burns AJ, Le Douarin NM (1998) The sacral neural crest contributes neurons and glia to the post-umbilical gut: spatiotemporal analysis of the development of the enteric nervous system. Development 125:4335–4347

    CAS  PubMed  Google Scholar 

  33. Burns AJ, Champeval D, Le Douarin NM (2000) Sacral neural crest cells colonise aganglionic hindgut in vivo but fail to compensate for lack of enteric ganglia. Dev Biol 219:30–43

    Article  CAS  PubMed  Google Scholar 

  34. Lane PW (1966) Association of megacolon with two recessive spotting genes in the mouse. J Hered 57:29–31

    CAS  PubMed  Google Scholar 

  35. Coventry S et al (1994) Migration of ganglion cell precursors in the ileoceca of normal and lethal spotted embyros, a murine model for Hirschsprung’s disease. Lab Investig 71:82–93

    CAS  PubMed  Google Scholar 

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Authors and Affiliations

  1. National Children’s Research Centre, Our Lady’s Children’s Hospital, Crumlin, Dublin 12, Ireland

    Anne-Marie O’Donnell & Prem Puri

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  1. Anne-Marie O’Donnell
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  2. Prem Puri
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Correspondence to Prem Puri.

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O’Donnell, AM., Puri, P. Skip segment Hirschsprung’s disease: a systematic review. Pediatr Surg Int 26, 1065–1069 (2010). https://doi.org/10.1007/s00383-010-2692-4

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