Colon

Congenital anomalies

Intestinal neuronal dysplasia



Topic Completed: 1 May 2013

Minor changes: 30 September 2020

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PubMed Search: Intestinal neuronal dysplasia

Hanni Gulwani, M.B.B.S.
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Cite this page: Gulwani H. Intestinal neuronal dysplasia. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/colonintestinalneuronal.html. Accessed October 28th, 2021.
Definition / general
  • Also known as neuronal colonic dysplasia, hyperganglionosis, pseudo or variant Hirschsprung 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 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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Positive stains
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