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Sudden unexpected early neonatal death due to undiagnosed Hirschsprung disease enterocolitis: a report of two cases and literature review

Abstract

Hirschsprung enterocolitis (HEC) is an uncommon, albeit well known, complication of Hirschsprung disease (HD). It is multifactorial and can appear in different age groups, but is particularly important in the neonatal period where it is characteristically seen in full-term neonates. Two cases of HEC are reported that were diagnosed at post-mortem examination, which presented as early sudden neonatal death, with a review the literature on fatal Hirschsprung enterocolitis. Case 1 was a 4-day old male neonate who was found unwell, struggling to breath, and with green vomitus. He was taken to hospital and pronounced dead a short time later. According to the parents meconium was passed on the first day. Post-mortem examination demonstrated necrotizing enterocolitis with isolated bowel perforation. Histology disclosed unsuspected HD. Case 2 was a 2-day old male neonate who was found wheezing with green vomitus. He arrived floppy, cyanosed, and in shock at the hospital and died a few hours later. Meconium was not passed, according to the parents. Post-mortem examination revealed necrotizing enterocolitis. There was also recto-sigmoidal aganglionosis and acetylcholinesterase staining confirmed HD. HEC is a multifactorial and sometimes recurrent complication of HD which characteristically develops in full-term neonates. Presentation with early sudden neonatal death is rare but should be considered in the diagnostic work-up of sudden deaths in this age group.

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References

  1. Amiel J, Sproat-Emison E, Garcia-Barcelo M, Lantieri F, Burzynski G, Borrego S, et al. Hirschsprung disease, associated syndromes and genetics: a review. J Med Genet. 2008;45:1–14.

    PubMed  Article  CAS  Google Scholar 

  2. Arbell D, Gross E, Orkin B, Koplewitz BZ, Udassin R. Imperforate anus, malrotation, and Hirschsprung’s disease: a rare and important association. J Pediatr Surg. 2006;41:1335–7.

    PubMed  Article  Google Scholar 

  3. Reynolds JF, Barber JC, Alford BA, Chandler JG, Kelly TE. Familial Hirschsprung’s disease and type D brachydactyly: a report of four affected males in two generations. Pediatrics. 1983;71:246–9.

    PubMed  CAS  Google Scholar 

  4. Croaker GD, Harvey JG, Cass DT. Hirschsprung’s disease, colonic atresia, and absent hand: a new triad. J Pediatr Surg. 1997;32:1368–70.

    PubMed  Article  CAS  Google Scholar 

  5. Hofstra RM, Valdenaire O, Arch E, Osinga J, Kroes H, Löffler BM, Hamosh A, Meijers C, Buys CH. A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction. Am J Hum Genet. 1999;64:304–8.

    PubMed  Article  CAS  Google Scholar 

  6. Brooks AS, Breuning MH, Osinga J, vd Smagt JJ, Catsman CE, Buys CH, Meijers C, Hofstra RM. A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome). J Med Genet. 1999;36:485–9.

    PubMed  CAS  Google Scholar 

  7. Türkdoğan-Sözüer D, Ozek MM, Sehiralti V, Kurtkaya O, Sav A. Hemimegalencephaly and Hirschsprung’s disease: a unique association. Pediatr Neurol. 1998;18:452–5.

    PubMed  Article  Google Scholar 

  8. Ahola JA, Koivusalo A, Sairanen H, Jokinen E, Rintala RJ, Pakarinen MP. Increased incidence of Hirschsprung’s disease in patients with hypoplastic left heart syndrome-a common neural crest-derived etiology? J Pediatr Surg. 2009;44:1396–400.

    PubMed  Article  Google Scholar 

  9. Lowry RB. Hirschsprung’s disease and congenital deafness. J Med Genet. 1975;12:114–5.

    PubMed  Article  CAS  Google Scholar 

  10. Aritürk E, Tosyali N, Aritürk N. A case of Waardenburg syndrome and aganglionosis. Turk J Pediatr. 1992;34:111–4.

    PubMed  Google Scholar 

  11. Gross A, Kunze J, Maier RF, Stoltenburg-Didinger G, Grimmer I, Obladen M. Autosomal-recessive neural crest syndrome with albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness: ABCD syndrome. Am J Med Genet. 1995;56:322–6.

    PubMed  Article  CAS  Google Scholar 

  12. Prontera P, Stangoni G, Ardisia C, Rogaia D, Mencarelli A, Donti E. Trisomy 2 mosaicism with caudal dysgenesis, Hirschsprung disease, and micro-anophthalmia. Am J Med Genet A. 2011;155A:928–30.

    PubMed  Article  Google Scholar 

  13. Mallory SB, Haynie LS, Williams ML, Hall W. Ichthyosis, deafness, and Hirschsprung’s disease. Pediatr Dermatol. 1989;6:24–7.

    PubMed  Article  CAS  Google Scholar 

  14. Mallory SB, Haynie LS, Williams ML, Hall W. Ichthyosis, deafness, and Hirschsprung’s disease. Pediatr Dermatol. 1989;6:24–7.

    PubMed  Article  CAS  Google Scholar 

  15. Meier-Ruge W, Lutterbeck PM, Herzog B, Morger R, Moser R, Schärli A. Acetylcholinesterase activity in suction biopsies of the rectum in the diagnosis of Hirschsprung’s disease. J Pediatr Surg. 1972;7:11–7.

    PubMed  Article  CAS  Google Scholar 

  16. Kapur RP, Reed RC, Finn LS, Patterson K, Johanson J, Rutledge JC. Calretinin immunohistochemistry versus acetylcholinesterase histochemistry in the evaluation of suction rectal biopsies for Hirschsprung Disease. Pediatr Dev Pathol. 2009;12:6–15.

    PubMed  Article  Google Scholar 

  17. Urushihara N, Kohno S, Hasegawa S. Pseudomembranous enterocolitis and hemorrhagic necrotizing enterocolitis in Hirschsprung’s disease. Surg Today. 1994;24:221–4.

    PubMed  Article  CAS  Google Scholar 

  18. Teich S, Schisgall RM, Anderson KD. Ischemic enterocolitis as a complication of Hirschsprung’s disease. J Pediatr Surg. 1986;21:143–5.

    PubMed  Article  CAS  Google Scholar 

  19. Bill AH Jr, Chapman ND. The enterocolitis of Hirschsprung’s disease. Its natural history and treatment. Am J Surg. 1962;103:70–4.

    Article  Google Scholar 

  20. Teitelbaum DH, Qualman SJ, Caniano DA. Hirschsprung’s disease. Identification of risk factors for enterocolitis. Ann Surg. 1988;207:240–4.

    PubMed  Article  CAS  Google Scholar 

  21. Murphy F, Puri P. New insights into the pathogenesis of Hirschsprung’s associated enterocolitis. Pediatr Surg Int. 2005;21:773–9.

    PubMed  Article  Google Scholar 

  22. Vieten D, Spicer R. Enterocolitis complicating Hirschsprung’s disease. Semin Pediatr Surg. 2004;13:263–72.

    PubMed  Article  Google Scholar 

  23. Boley SJ, Dinari G, Cohen MI. Hirschsprung’s disease in the newborn. Clin Perinatol. 1978;5:45–60.

    PubMed  CAS  Google Scholar 

  24. Menezes M, Puri P. Long-term outcome of patients with enterocolitis complicating Hirschsprung’s disease. Pediatr Surg Int. 2006;22:316–8.

    PubMed  Article  Google Scholar 

  25. Elhalaby EA, Teitelbaum DH, Coran AG, Heidelberger KP. Enterocolitis associated with Hirschsprung’s disease: a clinical histopathological correlative study. J Pediatr Surg. 1995;30:1023–7.

    PubMed  Article  CAS  Google Scholar 

  26. Raboei EH. Necrotizing enterocolitis in full-term neonates: is it aganglionosis? Eur J Pediatr Surg. 2009;19:101–4.

    PubMed  Article  CAS  Google Scholar 

  27. Teitelbaum DH, Coran AG. Enterocolitis. Semin Pediatr Surg. 1998;7:162–9.

    PubMed  CAS  Google Scholar 

  28. Mattar AF, Coran AG, Teitelbaum DH. MUC-2 mucin production in Hirschsprung’s disease: possible association with enterocolitis development. J Pediatr Surg. 2003;38:417–21.

    PubMed  Article  Google Scholar 

  29. Ament ME, Bill AH. Persistent diarrhea due to sucrase-isomaltase deficiency in a postoperative child with Hirschsprung’s disease. J Pediatr Surg. 1973;8:543–5.

    PubMed  Article  CAS  Google Scholar 

  30. Lloyd-Still JD, Demers LM. Hirschsprung’s enterocolitis, prostaglandins, and response to cholestyramine. J Pediatr Surg. 1978;13:417–8.

    PubMed  Article  CAS  Google Scholar 

  31. Teitelbaum DH, Caniano DA, Qualman SJ. The pathophysiology of Hirschsprung’s-associated enterocolitis: importance of histologic correlates. J Pediatr Surg. 1989;24:1271–7.

    PubMed  Article  CAS  Google Scholar 

  32. Pini Prato A, Rossi V, Avanzini S, Mattioli G, Disma N, Jasonni V. Hirschsprung’s disease what about mortality? Pediatr Surg Int. 2011;27:473–8.

    PubMed  Article  Google Scholar 

  33. Murthi GV, Raine PA. Preoperative enterocolitis is associated with poorer long-term bowel function after Soave-Boley endorectal pull-through for Hirschsprung’s disease. J Pediatr Surg. 2003;38:69–72.

    PubMed  Article  CAS  Google Scholar 

  34. Rahman N, Chouhan J, Gould S, Joseph V, Grant H, Hitchcock R, Johnson P, Lakhoo K. Rectal biopsy for Hirschsprung’s disease-are we performing too many? Eur J Pediatr Surg. 2010;20:95–7.

    PubMed  Article  CAS  Google Scholar 

  35. Zarabozo EE, Núñez Núñez R, Ayuso Velasco R, Vargas Muñoz I, Fernández de Mera JJ, Blesa Sánches E. Anorectal manometry in neonatal diagnosis of Hirschsprung’s disease. 2010;23:40–5.

  36. Grosfeld JL, Ballantine VN, Csicsko JF. A critical evaluation of the Duhamel operation for Hirschsprung’s disease. Arch Surg. 1978;113:454–60.

    PubMed  Article  CAS  Google Scholar 

  37. Klein MD, Coran AG, Wesley JR, Drongowski RA. Hirschsprung’s disease in the newborn. J Pediatr Surg. 1984;19:370–4.

    PubMed  Article  CAS  Google Scholar 

  38. Polley TZ Jr, Coran AG, Wesley JR. A ten-year experience with ninety-two cases of Hirschsprung’s disease. Including sixty-seven consecutive endorectal pull-through procedures. Ann Surg. 1985;202:349–55.

    PubMed  Article  Google Scholar 

  39. Polley TZ Jr, Coran AG. Hirschsprung’s disease in the newborn. Pediatr Surg Int. 1986;1:80–3.

    Article  Google Scholar 

  40. Caniano DA, Teitelbaum DH, Qualman SJ. Management of Hirschsprung’s disease in children with trisomy 21. Am J Surg. 1990;159:402–4.

    PubMed  Article  CAS  Google Scholar 

  41. Elhalaby EA, Coran AG, Blane CE, Hirschl RB, Teitelbaum DH. Enterocolitis associated with Hirschsprung’s disease: a clinical-radiological characterization based on 168 patients. J Pediatr Surg. 1995;30:76–83.

    PubMed  Article  CAS  Google Scholar 

  42. Lewis NA, Levitt MA, Zallen GS, Zafar MS, Iacono KL, Rossman JE, Caty MG, Glick PL. Diagnosing Hirschsprung’s disease: increasing the odds of a positive rectal biopsy result. J Pediatr Surg. 2003;38:412–6.

    PubMed  Article  Google Scholar 

  43. Wang JS, Lee HC, Huang FY, Chang PY, Sheu JC. Unexpected mortality in pediatric patients with postoperative Hirschsprung’s disease. Pediatr Surg Int. 2004;20:525–8.

    PubMed  CAS  Google Scholar 

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Acknowledgments

The authors would like to thank Dr André Coetzee for revising the manuscript.

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Correspondence to Luiz Cesar Peres.

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Peres, L.C., Cohen, M.C. Sudden unexpected early neonatal death due to undiagnosed Hirschsprung disease enterocolitis: a report of two cases and literature review. Forensic Sci Med Pathol 9, 558–563 (2013). https://doi.org/10.1007/s12024-013-9465-z

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  • DOI: https://doi.org/10.1007/s12024-013-9465-z

Keywords

  • Autopsy
  • Hirschsprung disease
  • Necrotizing enterocolitis
  • Sudden neonatal death
  • Infant
  • Forensic pathology
  • Aganglionosis
  • Acetylcholinestarase