Skip to main content

Advertisement

SpringerLink
Log in

Aganglionosis with the absence of hypertrophied nerve fibres predicts disease proximal to rectosigmoid colon

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

Abstract

Purpose

The gold standard for the diagnosis of Hirschsprung’s disease (HSCR) is the pathologic evaluation of a rectal biopsy that demonstrates the absence of ganglion cells and nerve fibre hypertrophy. However, it has been frequently reported that hypertrophic nerves may not be present in some variants like long-segment HSCR, total colonic aganglionosis, premature and very young infants. The aim of this study was to determine this association.

Methods

We performed a retrospective review of the HSCR database at our tertiary care children’s hospital from 2000 to 2013. In order to analyse the relationship between the diameter of the nerve fibres and the level of aganglionosis, we classified the patient sample into two groups—fibres ≤40 and >40 μm. The groups were statistically compared with P < 0.05 being significant.

Results

Rectal biopsies of 92 patients confirmed as HSCR with definitive operation performed at the same institution were reviewed. The mean nerve diameter was 50.1 μm (range 20–87.5 μm). Nerve fibre diameter ≤40 μm was predictive of transition zone above the sigmoid colon. A specificity of 77.3 % and a likelihood ratio of 2.03 supported this perception. No correlation was noted between nerve fibre diameter and gestational age at birth, birth weight or age at biopsy.

Conclusion

The absence of nerve fibre hypertrophy in the presence of aganglionosis on rectal biopsy specimens is predictive of long-segment HSCR.

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

Similar content being viewed by others

References

  1. Morris MI, Soglio DB, Ouimet A, Aspirot A, Patey N (2013) A study of calretinin in Hirschsprung pathology, particularly in total colonic aganglionosis. J Pediatr Surg 48(5):1037–1043

    Article  PubMed  Google Scholar 

  2. Karnovsky MJ, Roots L (1964) A “direct-coloring” thiocholine method for cholinesterases. J Hirschem Cytochem 12:219–221

    Article  CAS  Google Scholar 

  3. Knowles CH, De Giorgio R, Kapur RP, Bruder E, Farrugia G, Geboes K et al (2009) Gastrointestinal neuromuscular pathology: guidelines for histological techniques and reporting on behalf of the gastro 2009 international working group. Acta Neuropathol 118(2):271–301

    Article  PubMed  Google Scholar 

  4. Rabah R (2010) Total colonic aganglionosis: case report, practical diagnostic approach and pitfalls. Arch Pathol Lab Med 134(10):1467–1473

    PubMed  Google Scholar 

  5. Kapur RP (2009) Practical pathology and genetics of Hirschsprung’s disease. Semin Pediatr Surg 18(4):212–223

    Article  PubMed  Google Scholar 

  6. Monforte-Muñoz H, Gonzalez-Gomez I, Rowland JM, Landing BH (1998) Increased submucosal nerve trunk caliber in aganglionosis: a “positive” and objective finding in suction biopsies and segmental resections in Hirschsprung’s disease. Arch Pathol Lab Med 122(8):721–725

    PubMed  Google Scholar 

  7. Meier-Ruge W, Hunziker O, Tobler HJ, Walliser C (1972) The pathophysiology of aganglionosis of the entire colon (Zuelzer-Wilson syndrome). Morphometric investigations of the extent of sacral parasympathetic innervation of the circular muscles of the aganglionic colon. Beitr Pathol 147(3):228–236

  8. Meier-Ruge WA, Bruder E (2005) Pathology of chronic constipation in pediatric and adult coloproctology. Pathobiology 72(1–2):1–102

    PubMed  Google Scholar 

  9. Solari V, Piotrowska AP, Puri P (2003) Histopathological differences between recto-sigmoid Hirschsprung’s disease and total colonic aganglionosis. Pediatr Surg Int 19(5):349–354

    Article  CAS  PubMed  Google Scholar 

  10. Doi T, Kobayashi H, Yamataka A, Lane GJ, Miyano T (2005) Complete innervation profile of whole bowel resected at pull-through for Hirschsprung’s disease. Unexpected findings. Pediatr Surg Int 21(11):889–898

  11. Martucciello G (2008) Hirschsprung’s disease, one of the most difficult diagnoses in pediatric surgery: a review of the problems from clinical practice to the bench. Eur J Pediatr Surg 18(3):140–149

    Article  CAS  PubMed  Google Scholar 

Download references

Acknowledgments

We would like to thank Elizabeth Barnes from the Kids Research Institute, Westmead for assistance with statistical analysis and Dr Sanaz Sasani (Pathology registrar, Department of Pathology) for assistance with slide reviews.

Author information

Authors and Affiliations

  1. The Children’s Hospital at Westmead, Westmead, New South Wales, Australia

    Sarath Kumar Narayanan, Soundappan S. Soundappan, Edwin Kwan, Ralph C. Cohen, Amanda Charlton & Daniel T. Cass

Authors
  1. Sarath Kumar Narayanan
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Soundappan S. Soundappan
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Edwin Kwan
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Ralph C. Cohen
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Amanda Charlton
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Daniel T. Cass
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Sarath Kumar Narayanan.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Narayanan, S.K., Soundappan, S.S., Kwan, E. et al. Aganglionosis with the absence of hypertrophied nerve fibres predicts disease proximal to rectosigmoid colon. Pediatr Surg Int 32, 221–226 (2016). https://doi.org/10.1007/s00383-015-3835-4

Download citation

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00383-015-3835-4

Keywords

Search

Navigation