Diagnostic Criteria of Pediatric Intestinal Myopathies

J Pediatr Gastroenterol Nutr. 2018 Mar;66(3):383-386. doi: 10.1097/MPG.0000000000001727.


The authors aim to identify criteria for the diagnosis of intestinal visceral myopathy (IVM); results were compared with ultrastructural studies. Six IVM patients and 7 pediatric control cases (without gastrointestinal diseases) were studied. One case was a typical megacystis-microcolon-intestinal hypoperistalsis syndrome. The diagnostic path included: rectal suction biopsy, one-trocar transumbilical laparoscopic intestinal full-thickness biopsy technique. Pathological analysis included anti-alpha smooth muscle actin staining, and US study of intestinal biopsies. IVM histological examination demonstrated thinning of longitudinal muscle layer. The ratio of circular/longitudinal thickness was evaluated in all samples; in cases, this ratio presented as a mean value of 2.91, and in controls, a mean value of 1.472 (P = 0.0002). Ultrastructural diagnosis revealed variable myofibrils density in smooth muscle cells, irregularity of sarcolemma membranes, interstitial fibrosis, and myofiber disarray. The authors concluded that in IVM, circular/longitudinal thickness ratio and alpha smooth muscle actin staining can be used as significant tools to address the diagnosis.

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / pathology
  • Adolescent
  • Biopsy
  • Case-Control Studies
  • Child
  • Child, Preschool
  • Colon / abnormalities
  • Colon / pathology
  • Female
  • Humans
  • Infant
  • Intestinal Pseudo-Obstruction / diagnosis*
  • Intestinal Pseudo-Obstruction / pathology
  • Intestines / pathology
  • Male
  • Urinary Bladder / abnormalities
  • Urinary Bladder / pathology

Supplementary concepts

  • Megacystis microcolon intestinal hypoperistalsis syndrome