Colon non tumor
Congenital anomalies
Intestinal neuronal dysplasia

Author: Hanni Gulwani, M.D. (see Authors page)

Revised: 13 December 2016, last major update May 2013

Copyright: (c) 2003-2016, PathologyOutlines.com, Inc.

PubMed Search: Intestinal neuronal dysplasia
Cite this page: Intestinal neuronal dysplasia. PathologyOutlines.com website. http://pathologyoutlines.com/topic/colonintestinalneuronal.html. Accessed September 22nd, 2017.
Definition / general
  • Also known as neuronal colonic dysplasia, hyperganglionosis, pseudo or variant Hirschsprung's disease
  • Type A: hypoplastic or aplastic sympathetic innervation
  • Type B: hypoplastic or plastic parasympathetic innervation (Virchows Arch A Pathol Anat Histopathol 1992;420:171); has disturbed submucous plexus development (Semin Pediatr Surg 2009;18:206)
  • A controversial entity; should diagnose only if no other diagnosis, no obstruction, and multiple adequate biopsies (30 sections) of submucosa and muscularis propria available; may be due to delayed maturity of enteric nervous system as 95% have normal gut motility within 1 year
  • Associated with neurofibromatosis 1 and MEN2b syndromes
  • Associated with hypoganglionosis of myenteric plexus or aganglionosis of rectum
Diagnosis
Diagnostic criteria:
  • Biopsies 8 - 10 cm above dentate line, sufficient submucosa, 15 - 20% of ganglia are giant ganglia with more than 8 nerve cells in submucosa of 30 serial sections (Eur J Pediatr Surg 2004;14:384)
  • Hyperganglionosis of submucous plexus, giant ganglia and rectal biopsies show either ectopic ganglia, increased acetylcholinesterase activity in lamina propria or increased acetylcholinesterase in nerve fibers around submucosal blood vessels (J Pediatr Surg 2001;36:777, Indian J Pathol Microbiol 2004;47:4)
Case reports
Microscopic (histologic) description
  • Resembles Hirschsprung's disease with hyperplasia of myenteric nerves and increased acetylcholinesterase staining, but with occasional (15 - 20%) submucosal giant ganglia (containing 7 - 10 neurons vs. 3 - 5 normally) and isolated ganglion cells in submucosa
  • Note: giant ganglia by themselves are not specific (Virchows Arch 1998;432:103)
Microscopic (histologic) images

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Various images

Positive stains