 The urge to defecate is felt because stretching of the rectum causes

impulses in the cholinergic parasympathetic nerves of the pelvis.

 These impulses are conveyed to higher brain centers allowing the
individual to decide whether to defecate i.e. to voluntarily relax the
external anal sphincter, made up of voluntary striated muscle.
 This reflex reaction requires intact Auerbach’s and Meissner’s plexuses
which are part of the enteric nervous system (the branch of the
autonomic nervous system involved in GI tract control) and contain
parasympathetic motor fibers which control this striated muscle.
 In Hirschprung’s the internal sphincter does not relax in response to
colonic distension because there is a congenital absence of ganglion cells
in these plexuses in the rectum and sometimes the colon.
 As a result, stools create a blockage in the small intestine

Neuroembryology:
Introduction:
 Normally as a child develops in the womb nerve cells develop from the
top of the intestines to the anus
 With hirschprung’s disease the nerve cells stop developing before they
reach the end:

Neuroembryology of the parasympathetic nervous system:

 Preganglionic parasympathetic nerve fibers arise from brainstem neurons
(from brainstem nuclei, then via cranial nerves III, VII, IX and X to their
innervated structures) and neurons in the sacral region of the spinal cord
only.
 Preganglionic parasympathetic fibers innervating the colon reach
corresponding postganglionic fibers via the vagus nerve and S2.
 The postganglionic fibers then develop from their ganglia towards the
structures they innervate.
 The development of these postganglionic parasympathetic fibers from
their ganglia to their target organs depends on the migration of neural
crest cells from their point of origin to the root of the nerve fibers and
their migration to the target organ.

The neural crest:

 At two weeks of development the dorsal midline of ectoderm thickens –
this is the neural plate
 The lateral margins elevate forming neural folds around a midline
depression, the neural groove.
 The neural folds fuse forming neural tube.
 This formation begins at the centre of the body and then extends cranially
and caudally.
 Dorsolaterally to the neural tube, some of the cells from the neural fold
group together and form neural crests. It is this that forms the peripheral
nervous system. (Exactly where the neural crest cells are, the dorsal root
ganglions form – after the rest of the PNS has formed).
  Formation of neural tube is complete by 4th week of embryonic
development.

 The migration of neural crest cells is directed by the RET gene. As the
multipotent crest cells migrate they differentiate into neuroblasts and
form the nerve fibers of the peripheral nervous system, including the
autonomic nervous system.
 In Hirschprung’s disease neural crest cells fail to migrate and develop into
parasympathetic ganglia innervating part or all of the colon and rectum.
As a result there are no parasympathetic ganglia/postganglionic
parasympathetic fibers innervating these areas and they remain dilated.
 In 80% of Hirschprung’s patients there is no innervation to the colon and
rectum, whilst in 10-20% of patients there is only no innervation to the
transverse and ascending colon.

References:
Crossman, A.R., Neary D., 2009. Neuroanatomy: An Illustrated Colour Text. 4th Ed.
Churchill Livingstone Elsevier.

Sadler, T.W. 2010. Langman’s Medical Embryology. 11th Ed. Wolters Kluwer
Health.

Image source:
Martini, Frederich H. et al, 2009. Atlas of the Human Body. 8th Ed. Wolters Kluwer
Health. [scanned image page 130: Embryology summary 10: An introduction to
the development of the nervous system]

Psychosocial functioning:
 Psychosocial problems can be a consequence of Hirschprung’s disease in
adolescence. This is a result of faecal incontinence, soiling and fear of
flatus which causes embarrassment to adolescents amongst their peers.
 Furthermore, incontinence has some negative effects of families of
sufferers, especially if parents are not educated in it’s management.
 This ‘second handicap’ poses significant mental health problems. The
mental problems identified included low self esteem, poor body concept,
withdrawal, anxiety, and depression.
 However, with proper management by the medical team and child’s
parents, it has been proven that psychosocial complications can be
avoided.