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

Forensic Science, Medicine, and Pathology volume 9, pages 558–563 (2013)Cite this article

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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Acknowledgments

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

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Authors and Affiliations

  1. Department of Histopathology, Sheffield Children’s Hospital NHS Foundation Trust, Sheffield, S10 2TH, UK

    Luiz Cesar Peres & Marta Cecilia Cohen

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  1. Luiz Cesar Peres
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  2. Marta Cecilia Cohen
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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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Keywords

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