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Hirschsprung Disease

  • Rachel E. Hanke
  • Morgan K. Moroi
  • Kathryn Lynn MartinEmail author
Chapter

Abstract

Hirschsprung disease is characterized by functional bowel obstruction secondary to congenital parasympathetic aganglionosis. It occurs in 1 in 5000 live births, with a 4:1 male-to-female preponderance. The majority of affected children present in the neonatal period with failure to pass meconium in the first 48 of hours life followed by feeding intolerance, abdominal distension, and explosive stooling on rectal stimulation. Contrast enema aids in the diagnosis, which is confirmed pathologically by the absence of ganglion cells on rectal biopsy. Treatment is surgical with resection of the distal aganglionic bowel followed by anastomosis of the normally innervated bowel to the distal rectum. Children with Hirschsprung disease are at risk for Hirschsprung-associated enterocolitis, which may be life-threatening, as well as lifelong bowel dysmotility characterized by chronic constipation.

Keywords

Hirschsprung disease Aganglionosis Neonatal bowel obstruction Hirschsprung-associated enterocolitis Endo-rectal pull-through 

References

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Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  • Rachel E. Hanke
    • 1
  • Morgan K. Moroi
    • 1
  • Kathryn Lynn Martin
    • 2
    Email author
  1. 1.Department of SurgeryPenn State Milton S. Hershey Medical CenterHersheyUSA
  2. 2.Department of Surgery, Division of Pediatric SurgeryPenn State Milton S. Hershey Medical CenterHersheyUSA

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