Skip to main content

Advertisement

SpringerLink
Log in

Skip segment Hirschsprung’s disease: report of two rare cases and management

  • Original Article
  • Published:
Pediatric Surgery International Aims and scope Submit manuscript

Abstract

Purpose

Skip segment Hirschsprung’s disease (SS-HSCR) is defined as the occurrence of a segment of ganglionated intestine surrounded proximally and distally by aganglionosis. The presence of the skip intestinal segment often leads to clinical misdiagnosis, missed diagnosis or inadequate resection of the lesions. The purpose was to describe two new cases of SS-HSCR with the aim of proposing questions regarding the diagnosis and treatment of this rare disease.

Methods

We reported two cases of infants with SS-HSCR that were admitted to our institution within the last 3 years.

Results

One patient had a skip segment of ganglionated intestine in the ascending colon. In the other patient, there were no ganglionic cells in the rectum and appendix, but ganglionic cells were visible in the proximal ascending colon. The entire colons in the both cases were finally resected, and a pull-through operation was performed.

Conclusion

Multipoint biopsy should be performed when the biopsy results are inconsistent with clinical manifestations. Intraoperative laparoscopic identification of the transition zone may be necessary when TCA is suspected. Multisegment biopsy is needed to as a preventative measure for SS-HSCR if TCA is indicated during surgery. Further study is required to determine the optimal length and method of retention of segments.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2
Fig. 3
Fig. 4

Similar content being viewed by others

References

  1. Sprinz H, Cohen A, Heaton LD (1961) Hirschsprung’s disease with skip area. Ann Sugr 153:143–148. https://doi.org/10.1097/00000658-196101000-00017

    Article  CAS  Google Scholar 

  2. Martin LW, Buchino JJ, LeCoultre C et al (1979) Hirschsprung’s disease with skip area (segmental aganglionosis). J Pediatr Surg 14:686–687. https://doi.org/10.1016/s0022-3468(79)80245-6

    Article  PubMed  CAS  Google Scholar 

  3. Kapur RP, DeSa DJ, Luquette M et al (1995) Hypothesis: pathogenesis of skip areas in long-segment Hirschsprung’s disease. Pediatr Pathol Lab Med 15:23–37. https://doi.org/10.3109/15513819509026937

    Article  PubMed  CAS  Google Scholar 

  4. Coe A, Avansino JR, Kapur RP (2016) Distal rectal skip-segment Hirschsprung disease and the potential for false-negative diagnosis. Pediatr Devel Pathol 19:123–131. https://doi.org/10.2350/15-08-1686-OA.1

    Article  Google Scholar 

  5. Shenoy A, De Los SY, Johnson KN et al (2019) Distal rectal skip segment Hirschsprung disease: case report and review of literature. Fetal Pediatr Pathol 38:437–443. https://doi.org/10.1080/15513815.2019.1608606

    Article  PubMed  Google Scholar 

  6. DeKoninck PLJ, Crossley KJ, Kashyap AJ et al (2019) Effects of tracheal occlusion on the neonatal cardiopulmonary transition in an ovine model of diaphragmatic hernia. Arch Dis Child Fetal Neonatal Ed 104:F609-616. https://doi.org/10.1136/arcHSCRischild-2018-316047

    Article  PubMed  Google Scholar 

  7. Mohanty S, Kini U, Das K et al (2017) Appendicular biopsy in total colonic aganglionosis: a histologically challenging and inadvisable practice. Pediatr Devel Pathol 20:277–287. https://doi.org/10.1177/1093526617692913

    Article  Google Scholar 

  8. Zhang W, Wu H, Li H et al (2016) Consensus on diagnosis on congenital intestinal aganglionosis. Zhonghua Bing Li Xue Za Zhi 45:149–152. https://doi.org/10.3760/cma.j.issn.0529-5807.2016.03.002

    Article  PubMed  Google Scholar 

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

    Article  Google Scholar 

  10. Lake JI, Heuckeroth RO (2013) Enteric nervous system development: migration, differentiation, and disease. Am J Physiol Gastrointest Liver Physiol 305:G1-24. https://doi.org/10.1152/ajpgi.00452.2012

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  11. Nishiyama C, Uesaka T, Manabe T et al (2012) Trans-mesenteric neural crest cells are the principal source of the colonic enteric nervous system. Nat Neurosci 15:1211–1218. https://doi.org/10.1038/nn.3184

    Article  PubMed  CAS  Google Scholar 

  12. Moore SW (2009) Total colonic aganglionosis and Hirschsprung’s disease: shades of the same or different? Pediatr Surg Int 25:659–666. https://doi.org/10.1007/s00383-009-2408-9

    Article  PubMed  Google Scholar 

  13. Ghose SI, Squire BR, Stringer MD et al (2000) Hirschsprung’s disease: problems with transition-zone pull-through. J Pediatr Surg 35:1805–1809. https://doi.org/10.1053/jpsu.2000.19263

    Article  PubMed  CAS  Google Scholar 

  14. Kapur RP, Kennedy AJ (2012) Transitional zone pull through: surgical pathology considerations. Semin Pediatr Surg 21:291–301. https://doi.org/10.1053/j.sempedsurg.2012.07.003

    Article  PubMed  Google Scholar 

  15. 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. https://doi.org/10.1006/dbio.1999.9592

    Article  PubMed  CAS  Google Scholar 

  16. Skelly BL, Ervine E, Bisharat M et al (2012) Small bowel skip segment Hirschprung’s disease presenting with perforated Meckel’s diverticulum. Pediatr Surg Int 28:645–648. https://doi.org/10.1007/s00383-011-3050-x

    Article  PubMed  CAS  Google Scholar 

  17. Muise ED, Cowles RA (2016) Rectal biopsy for Hirschsprung’s disease: a review of techniques, pathology, and complications. World J Pediatr 12:135–141. https://doi.org/10.1007/s12519-015-0068-5

    Article  PubMed  Google Scholar 

  18. Kapur RP (2009) Practical pathology and genetics of Hirschsprung’s disease. Semin Pediatr Surg 18:212–223. https://doi.org/10.1053/j.sempedsurg.2009.07.003

    Article  PubMed  Google Scholar 

  19. Raghunath BV, Shankar G, Babu MN et al (2014) Skip segment Hirschsprung’s disease: a case report and novel management technique. Pediatr Surg Int 30:119–122. https://doi.org/10.1007/s00383-013-3367-8

    Article  PubMed  CAS  Google Scholar 

  20. Doi T, O’Donnell A, McDermott M et al (2011) Skip segment Hirschsprung’s disease: a rare phenomenon. Pediatr Surg Int 27:787–789. https://doi.org/10.1007/s00383-011-2903-7

    Article  PubMed  Google Scholar 

  21. Castle S, Suliman A, Shayan K et al (2011) Total colonic aganglionosis with skip lesions: report of a rare case and management. J Pediatr Surg 47:581–584. https://doi.org/10.1016/j.jpedsurg.2011.11.067

    Article  Google Scholar 

Download references

Acknowledgements

This study was supported by the National Natural Science Foundation of China (Grant No. 81801498), the Shanghai Municipal Health Commission Foundation (Grant No. 20174Y0018), and the Shanghai “Rising Stars of Medical Talent” Youth Development Program (2019-72).

Author information

Authors and Affiliations

  1. Department of Surgery, National Children’s Medical Center, Children’s Hospital of Fudan University, Shanghai, 201102, China

    Hong Yang, Shaobo Yang, Yanlei Huang & Gong Chen

  2. Department of Pathology, National Children’s Medical Center, Children’s Hospital of Fudan University, Shanghai, 201102, China

    Yangyang Ma

Authors
  1. Hong Yang
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Yangyang Ma
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Shaobo Yang
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Yanlei Huang
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Gong Chen
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Shaobo Yang.

Ethics declarations

Conflict of interest

None of the authors have conflicts of interest related to this article.

Ethical approval

This article does not refer to studies with human participants, and none of the authors performed experiments on animals.

Informed consent

Written informed consent for the publication of this article was obtained from the patient’s parents.

Additional information

Publisher's Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Yang, H., Ma, Y., Yang, S. et al. Skip segment Hirschsprung’s disease: report of two rare cases and management. Pediatr Surg Int 37, 1563–1568 (2021). https://doi.org/10.1007/s00383-021-04981-4

Download citation

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00383-021-04981-4

Keywords

Search

Navigation