Familial enteric neuropathy with pseudoobstruction

Michael Camilleri, Laura D Carbone, Michael D. Schuffler

Research output: Contribution to journalArticle

17 Citations (Scopus)

Abstract

We report a case of autosomal dominant chronic intestinal pseudoobstruction secondary to a familial enteric neuropathy. Esophagogastrointestinal manometry studies in the index case showed decreased postprandial contractile frequency with normal amplitude of pressure activity in the stomach and small bowel. Pupillary function and autonomic reflexes were all normal, excluding an extrinsic autonomic neuropathy of the viscera. Histologic examination of the small intestine by hematoxylin and eosin stains revealed normal smooth muscles but a reduced number of neurons in the myenteric plexus without inflammatory cells or neuronal intranuclear inclusions. Histologic examination of the myenteric plexus using the sections taken along the longitudinal axis of the intestine, stained with silver by the Smith technique, disclosed decreased numbers of argyrophilic neurons and degeneration of neurons and axons; however, there was no reactive increase in the number of glial cell nuclei. The patient's mother had suffered from chronic intestinal pseudoobstruction, which did not abate following extensive small bowel resection. This is the third family reported with an autosomal dominant enteric neuropathy unassociated with evidence of extrinsic autonomic or peripheral neuropathy. Subtotal resection of the small bowel was followed by recurrence of the pseudoobstruction syndrome in both affected members of the family.

Original languageEnglish (US)
Pages (from-to)1168-1171
Number of pages4
JournalDigestive Diseases and Sciences
Volume36
Issue number8
DOIs
StatePublished - Aug 1 1991
Externally publishedYes

Fingerprint

Intestinal Pseudo-Obstruction
Myenteric Plexus
Neurons
Intranuclear Inclusion Bodies
Nerve Degeneration
Viscera
Manometry
Peripheral Nervous System Diseases
Hematoxylin
Eosine Yellowish-(YS)
Cell Nucleus
Silver
Neuroglia
Small Intestine
Intestines
Smooth Muscle
Axons
Reflex
Stomach
Coloring Agents

Keywords

  • myenteric plexus
  • neuropathy
  • pseudoobstruction
  • subtotal enterectomy

ASJC Scopus subject areas

  • Physiology
  • Gastroenterology

Cite this

Familial enteric neuropathy with pseudoobstruction. / Camilleri, Michael; Carbone, Laura D; Schuffler, Michael D.

In: Digestive Diseases and Sciences, Vol. 36, No. 8, 01.08.1991, p. 1168-1171.

Research output: Contribution to journalArticle

Camilleri, Michael ; Carbone, Laura D ; Schuffler, Michael D. / Familial enteric neuropathy with pseudoobstruction. In: Digestive Diseases and Sciences. 1991 ; Vol. 36, No. 8. pp. 1168-1171.
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