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Neonatology pp 1345-1353 | Cite as

Hirschsprung’s Disease in Newborns

  • Girolamo Mattioli
  • Maria Grazia Faticato
  • Alessio Pini Prato
  • Vincenzo Jasonni
Reference work entry

Abstract

Hirschsprung’s disease, first described by Harald Hirschsprung in 1886, is one of the most common causes of intestinal obstruction in the newborn.

The disease occurs in roughly 1 in 5000 live births with a strong male preponderance and results as a consequence of abnormal migration of neural crest-derived neuroblasts that determines congenital absence of intestinal intramural ganglia within the enteric nervous system (ENS) with variable distal bowel involvement.

Symptoms range from neonatal intestinal obstruction to chronic progressive constipation in older children; a common severe complication presenting in many patients is enterocolitis.

The gold standard for the diagnosis of Hirschsprung is rectal suction biopsy.

The treatment is surgical and involves removing the aganglionic bowel and reconstructing the intestinal tract by bringing the normally innervated bowel down to the anus.

Keywords

Hirschsprung’s disease Neonatal intestinal obstruction Congenital megacolon Enterocolitis 

References

  1. Amiel J, Sproat-Emison E, Garcia-Barcelo M, Lantieri F, Burzynski G, Borrego S, Pelet A, Arnold S, Miao X, Griseri P, Brooks AS, Antinolo G, de Pontual L, Clement-Ziza M, Munnich A, Kashuk C, West K, Wong KK, Lyonnet S, Chakravarti A, Tam PK, Ceccherini I (2008) Hirschsprung disease, associated syndromes and genetics: a review. J Med Genet 45(1):1.  https://doi.org/10.1136/jmg.2007.053959CrossRefPubMedGoogle Scholar
  2. Bruder E, Meier-Ruge WA (2010) Twenty years diagnostic competence center for Hirschsprung’s disease in Basel. Chirurg 81(6):572.  https://doi.org/10.1007/s00104-010-1924-4CrossRefPubMedGoogle Scholar
  3. Coran AG, Teitelbaum DH (2000) Recent advances in the management of Hirschsprung’s disease. Am J Surg 180(5):382.  https://doi.org/10.1016/S0002-9610(00)00487-6CrossRefPubMedGoogle Scholar
  4. Ekema G, Falchetti D, Torri F, Merulla VE, Manciana A, Caccia G (2003) Further evidence on totally transanal one-stage pull-through procedure for Hirschsprung’s disease. J Pediatr Surg 38(10):14577064CrossRefGoogle Scholar
  5. Eng C (1996) Seminars in medicine of the Beth Israel hospital, Boston. The RET proto-oncogene in multiple endocrine neoplasia type 2 and Hirschsprung’s disease. N Engl J Med 335(13):943.  https://doi.org/10.1056/NEJM199609263351307CrossRefPubMedGoogle Scholar
  6. Frykman PK, Nordenskjöld A, Kawaguchi A, Hui TT, Granström AL, Cheng J, Tang J, Underhill DM, Iliev I, Funari VA, Wester T, HAEC Collaborative Research Group (HCRG). Characterization of bacterial and fungal microbiome in children with Hirschsprung disease with and without a history of enterocolitis: a multicenter study. Worcester: Reeta Prusty Rao, Worcester Polytechnic Institute, 2015, 10(4).  https://doi.org/10.1371/journal.pone.0124172CrossRefGoogle Scholar
  7. Hackam DJ, Filler RM, Pearl RH (1998) Enterocolitis after the surgical treatment of Hirschsprung’s disease: risk factors and financial impact. J Pediatr Surg 33(6):9660207CrossRefGoogle Scholar
  8. Han-Geurts IJ, Hendrix VC, de Blaauw I, Wijnen MH, van Heurn EL (2014) Outcome after anal intrasphincteric Botox injection in children with surgically treated Hirschsprung disease. J Pediatr Gastroenterol Nutr 59(5):604.  https://doi.org/10.1097/MPG.0000000000000483CrossRefPubMedGoogle Scholar
  9. Holschneider AM, Puri P (2000) Hirschsprung’s disease and allied disorders, 2nd edn. Harwood Academic Publishers, AmsterdamGoogle Scholar
  10. Khan AR, Vujanic GM, Huddart S (2003) The constipated child: how likely is Hirschsprung’s disease? Pediatr Surg Int 19(6):439.  https://doi.org/10.1007/s00383-002-0934-9CrossRefPubMedGoogle Scholar
  11. Langer JC, Durrant AC, de la Torre L, Teitelbaum DH, Minkes RK, Caty MG, Wildhaber BE, Ortega SJ, Hirose S, Albanese CT (2003) One-stage transanal soave pullthrough for Hirschsprung disease: a multicenter experience with 141 children. Ann Surg 238(4):569.  https://doi.org/10.1097/01.sla.0000089854.00436.cdCrossRefPubMedPubMedCentralGoogle Scholar
  12. Loening-Baucke V, Kimura K (1999) Failure to pass meconium: diagnosing neonatal intestinal obstruction. Am Fam Physician 60(7):10569507Google Scholar
  13. Martucciello G, Favre A, Torre M, Pini Prato A, Jasonni V (2001) A new rapid acetylcholinesterase histochemical method for the intraoperative diagnosis of Hirschsprung’s disease and intestinal neuronal dysplasia. Eur J Pediatr Surg 11(5):300.  https://doi.org/10.1055/s-2001-18557CrossRefPubMedGoogle Scholar
  14. Martucciello G, Pini Prato A, Puri P, Holschneider AM, Meier-Ruge W, Jasonni V, Tovar JA, Grosfeld JL (2005) Controversies concerning diagnostic guidelines for anomalies of the enteric nervous system: a report from the fourth international symposium on Hirschsprung’s disease and related neurocristopathies. J Pediatr Surg 40(10):1527.  https://doi.org/10.1016/j.jpedsurg.2005.07.053CrossRefPubMedGoogle Scholar
  15. Mattioli G, Pini Prato A, Giunta C, Avanzini S, Della Rocca M, Montobbio G, Parodi S, Rapuzzi G, Georgeson K, Jasonni V (2008) Outcome of primary endorectal pull-through for the treatment of classic Hirschsprung disease. J Laparoendosc Adv Surg Tech A 18(6):869.  https://doi.org/10.1089/lap.2007.0223CrossRefPubMedGoogle Scholar
  16. Mattioli G, Pio L, Leonelli L, Razore B, Disma N, Montobbio G, Jasonni V, Petralia P, Pini PA (2017) A provisional experience with robot-assisted soave procedure for older children with Hirschsprung disease: back to the future? J Laparoendosc Adv Surg Tech A 25:546.  https://doi.org/10.1089/lap.2016.0337CrossRefGoogle Scholar
  17. Menezes M, Pini Prato A, Jasonni V, Puri P (2008) Long-term clinical outcome in patients with total colonic aganglionosis: a 31-year review. J Pediatr Surg 43(9):1696.  https://doi.org/10.1016/j.jpedsurg.2008.01.072CrossRefPubMedGoogle Scholar
  18. Ng J, Ford K, Dalton S, McDowell S, Charlesworth P, Cleeve S (2015) Transanal irrigation for intractable faecal incontinence and constipation: outcomes, quality of life and predicting non-adopters. Pediatr Surg Int 31(8):729.  https://doi.org/10.1007/s00383-015-3735-7CrossRefGoogle Scholar
  19. Parisi MA, Kapur RP (2000) Genetics of Hirschsprung disease. Curr Opin Pediatr 12(6):11106284CrossRefGoogle Scholar
  20. Pini Prato A, Martucciello G, Jasonni V (2001) Solo-RBT: a new instrument for rectal suction biopsies in the diagnosis of Hirschsprung’s disease. J Pediatr Surg 36(9):11528606Google Scholar
  21. Pini-Prato A, Martucciello G, Jasonni V (2006) Rectal suction biopsy in the diagnosis of intestinal dysganglionoses: 5-year experience with Solo-RBT in 389 patients. J Pediatr Surg 41(6):1043.  https://doi.org/10.1016/j.jpedsurg.2006.01.070CrossRefPubMedGoogle Scholar
  22. Pini-Prato A, Avanzini S, Gentilino V, Martucciello G, Mattioli G, Coccia C, Parodi S, Bisio GM, Jasonni V (2007) Rectal suction biopsy in the workup of childhood chronic constipation: indications and diagnostic value. Pediatr Surg Int 23(2):117.  https://doi.org/10.1007/s00383-006-1845-yCrossRefPubMedGoogle Scholar
  23. Pini Prato A, Gentilino V, Giunta C, Avanzini S, Parodi S, Mattioli G, Martucciello G, Jasonni V (2008a) Hirschsprung’s disease: 13 years’ experience in 112 patients from a single institution. Pediatr Surg Int 24(2):175.  https://doi.org/10.1007/s00383-007-2089-1CrossRefPubMedGoogle Scholar
  24. Pini Prato A, Gentilino V, Giunta C, Avanzini S, Mattioli G, Parodi S, Martucciello G, Jasonni V (2008b) Hirschsprung disease: do risk factors of poor surgical outcome exist? J Pediatr Surg 43(4):612.  https://doi.org/10.1016/j.jpedsurg.2007.10.007CrossRefPubMedGoogle Scholar
  25. Pini Prato A, Musso M, Ceccherini I, Mattioli G, Giunta C, Ghiggeri GM, Jasonni V (2009) Hirschsprung disease and congenital anomalies of the kidney and urinary tract (CAKUT): a novel syndromic association. Medicine (Baltimore) 88(2):83.  https://doi.org/10.1097/MD.0b013e31819cf5daCrossRefGoogle Scholar
  26. Pini Prato A, Rossi V, Avanzini S, Mattioli G, Disma N, Jasonni V (2011) Hirschsprung’s disease: what about mortality? Pediatr Surg Int 27(5):473.  https://doi.org/10.1007/s00383-010-2848-2CrossRefPubMedGoogle Scholar
  27. Pini Prato A, Rossi V, Mosconi M, Holm C, Lantieri F, Griseri P, Ceccherini I, Mavilio D, Jasonni V, Tuo G, Derchi M, Marasini M, Magnano G, Granata C, Ghiggeri G, Priolo E, Sposetti L, Porcu A, Buffa P, Mattioli G (2013) A prospective observational study of associated anomalies in Hirschsprung’s disease. Orphanet J Rare Dis 8:184.  https://doi.org/10.1186/1750-1172-8-184CrossRefPubMedPubMedCentralGoogle Scholar
  28. Proctor ML, Traubici J, Langer JC, Gibbs DL, Ein SH, Daneman A, Kim PC (2003) Correlation between radiographic transition zone and level of aganglionosis in Hirschsprung’s disease: implications for surgical approach. J Pediatr Surg 38(5):775.  https://doi.org/10.1016/jpsu.2003.50165CrossRefPubMedGoogle Scholar
  29. Romeo G, Ronchetto P, Luo Y, Barone V, Seri M, Ceccherini I, Pasini B, Bocciardi R, Lerone M, Kääriäinen H, Martucciello G (1994) Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung’s disease. Nature 367(6461):377.  https://doi.org/10.1038/367377a0CrossRefPubMedGoogle Scholar
  30. Ruttenstock E, Puri P (2009) A meta-analysis of clinical outcome in patients with total intestinal aganglionosis. Pediatr Surg Int 25(10):833.  https://doi.org/10.1007/s00383-009-2439-2CrossRefPubMedGoogle Scholar
  31. Stewart DR, von Allmen D (2003) The genetics of Hirschsprung disease. Gastroenterol Clin N Am 32(3):14562576CrossRefGoogle Scholar
  32. Tomita R, Ikeda T, Fujisaki S, Shibata M, Tanjih K (2003) Upper gut motility of Hirschsprung’s disease and its allied disorders in adults. Hepato-Gastroenterology 50(54):14696442Google Scholar

Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  • Girolamo Mattioli
    • 1
    • 2
  • Maria Grazia Faticato
    • 1
    • 2
  • Alessio Pini Prato
    • 2
  • Vincenzo Jasonni
    • 1
    • 2
  1. 1.Department of Pediatric SurgeryUniversity of GenoaGenoaItaly
  2. 2.Giannina Gaslini InstituteGenoaItaly

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