Home > D. Systemic pathology > Genetic and developmental anomalies > infantile visceral myopathy

infantile visceral myopathy

MIM.155310

Tuesday 12 October 2004

Familial visceral myopathy is the most common cause of chronic primary (idiopathic) intestinal pseudo-obstruction (CPIPO).

Synopsis

- segmental dilatation of the alimentary tract

  • multiple sites
  • megaduodenum

- degenerating muscle cells
- smooth muscle fibrosis

  • full thickness of the muscularis propria
  • often more prominent in or limited to the external layer

- degenerating muscle cells: pale, poorly defined, and fragmented
- residual thread-like remnants surrounded by collagen
- destroyed muscle cells
- apparent spaces surrounded by collagen
- vacuolated appearance of longitudinal and circular muscles

Differential diagnosis

- progressive systemic sclerosis

Synopsis

- congenital myopathic pseudo-obstruction
- smooth muscles of the digestive tract (megaduodenum and megacolon) and the urinary bladder (megacystis)
- megaduodenum
- megacystis

See also

- megacystis-microcolon-intestinal peristalsis syndrome
- myopathic CIPO

References

- Congenital visceral myopathy with a predominantly hypertrophic pattern treated by multivisceral transplantation. Koh S, Bradley RF, French SW, Farmer DG, Cortina G. Hum Pathol. 2008 Jun;39(6):970-4.
PMID: 18329691

- Guze CD, Hyman PE, Payne VJ. Family studies of infantile visceral myopathy: a congenital myopathic pseudo-obstruction syndrome. Am J Med Genet. 1999 Jan 15;82(2):114-22. PMID: 9934973

- Schuffler MD, Pagon RA, Schwartz R, Bill AH. Visceral myopathy of the gastrointestinal and genitourinary tracts in infants. Gastroenterology. 1988 Apr;94(4):892-8. PMID: 3345889

- Alstead EM, Murphy MN, Flanagan AM, Bishop AE, Hodgson HJ. Familial autonomic visceral myopathy with degeneration of muscularis mucosae. J Clin Pathol. 1988 Apr;41(4):424-9. PMID: 3366929

- Fitzgibbons PL, Chandrasoma PT. Familial visceral myopathy. Evidence of diffuse involvement of intestinal smooth muscle. Am J Surg Pathol. 1987 Nov;11(11):846-54. PMID: 3674282

- Mitros FA, Schuffler MD, Teja K, Anuras S. Pathologic features of familial visceral myopathy. Hum Pathol. 1982 Sep;13(9):825-33. PMID: 6896696

- Smith JA, Hauser SC, Madara JL. Hollow visceral myopathy: a light- and electron-microscopic study. Am J Surg Pathol. 1982 Apr;6(3):269-75. PMID: 7102905