Sacral Pathway Theory of Hirschsprung’s Disease

  • Takumi Fujimura
  • Seiichi Hirobe


The pathological feature of Hirschsprung’s disease (HSCR) consists in the continuous absence of ganglion cells from the intestine toward the caudocranial direction with most of the aganglionic segment occurring in the hindgut area and no abnormality being present in the pelvic nervous system. Several hypotheses of the cause of HSCR exist. Huther et al. speculated that the lesion was due to abnormalities in the lumbosacral nerves where the ganglion cells in the hindgut originate. The recent studies for ENS on chick, rodent, and human have shown that enteric ganglion cells are derived from neural crest. The majority of neural crest that colonize in gut originate from vagal neural crest adjacent to somite first to 7th. Another smaller but significant contribution that is restricted to the post-umbilical enteric ganglion cells has considered that they come from a second caudal region of the neuraxis, that is, the sacral neural crest. Unfortunately, hypothesis of dual origin of main enteric neurons in the gut has been negated by studies using chick, rodent, and human embryos. Also, the hypothesis that HSCR is caused by an abnormal sacral nerve cannot account for the type of HSCR presenting a long, aganglionic segment. Currently the sacral nerve pathway theory is not considered to be an adequate explanation of the main cause of HSCR.


Sacral neural crest Vagal neural crest Enteric nervous system Hirschsprung’s disease Migration 



Embryonic day


Enteric nervous system


Hirschsprung’s disease


Neural crest


Neural crest cells


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Copyright information

© Springer Nature Singapore Pte Ltd. 2019

Authors and Affiliations

  • Takumi Fujimura
    • 1
  • Seiichi Hirobe
    • 1
  1. 1.Department of SurgeryTokyo Metropolitan Children’s Medical CenterFuchuJapan

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