infantile visceral myopathy
MIM.155310
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#