Summary
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.
Similar content being viewed by others
References
Colemont LJ, Camilleri M: Chronic intestinal pseudoobstruction: diagnosis and treatment. Mayo Clin Proc 64:60–70, 1989
Schuffler MD, Rohrmann CA, Chaffee RG, Brand DL, Delaney JH, Young JH: Chronic intestinal pseudoobstruction: A report of 27 cases and review of the literature. Medicine 60:173–196, 1981
Krishnamurthy S, Schuffler MD: Pathology of neuromuscular disorders of the small intestine and colon. Gastroenterology 93:610–639, 1987
Stanghellini V, Camilleri M, Malagelada J-R: Chronic idiopathic intestinal pseudo-obstruction: Clinical and intestinal manometric findings. Gut 28:5–12, 1987
Camilleri M: Disorders of gastrointestinal motility in neurologic diseases. Mayo Clin Proc 65:825–846, 1990
Schuffler MD, Bird TD, Sumi SM, Cook A: A familial neuronal disease presenting as intestinal pseudoobstruction. Gastroenterology 75:889–898, 1978
Anuras S, Mitros FA, Nowak TV, Ionasescu VV, Gurll NJ, Christensen J, Green JB: A familial visceral myopathy with external ophthalmoplegia and autosomal recessive transmission. Gastroenterology 848:346–353, 1983
Faber J, Fich A, Steinberg A, Steiner I, Granot E, Alon I, Rachmilevitz D, Freier S, Gilai A: Familial intestinal pseudoobstruction dominated by a progressive neurologic disease at a young age. Gastroenterology 92:786–790, 1987
Mayer EA, Schuffler MD, Rotter JI, Hanna P, Mogard M: Familial visceral neuropathy with autosomal dominant transmission. Gastroenterology 91:1528–1535, 1986
Roy AD, Bharucha H, Nevin NC, Odling-Smee GN: Idiopathic intestinal pseudoobstruction: A familial visceral neuropathy. Clin Genet 18:291–297, 1980
Schuffler MD, Leon SH, Krishnamurthy S: Intestinal pseudoobstruction caused by a new form of visceral neuropathy: Palliation by radical small bowel resection. Gastroenterology 89:1152–1156, 1985
Mughal MM, Irving MH: Treatment of endstage chronic intestinal pseudoobstruction by subtotal enterectomy and home parenteral nutrition. Gut 29:1613–1617, 1988
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Camilleri, M., Carbone, L.D. & Schuffler, M.D. Familial enteric neuropathy with pseudoobstruction. Digest Dis Sci 36, 1168–1171 (1991). https://doi.org/10.1007/BF01297468
Received:
Revised:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF01297468