Congenital mydriasis associated with megacystis microcolon intestinal hypoperistalsis syndrome

J Neuroophthalmol. 2013 Sep;33(3):271-5. doi: 10.1097/WNO.0b013e31828b7d65.

Abstract

We report a case of congenital mydriasis in a neonate with megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS). Pilocarpine testing and gastrointestinal pathology in our patient suggest that the mydriasis is due to an underlying smooth muscle myopathy of the iris sphincter muscle. These findings may have important implications regarding the pathogenesis of MMIHS.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / pathology
  • Colon / abnormalities*
  • Colon / pathology
  • Eye Diseases, Hereditary / complications*
  • Eye Diseases, Hereditary / pathology
  • Female
  • Humans
  • Intestinal Pseudo-Obstruction / complications*
  • Intestinal Pseudo-Obstruction / pathology
  • Muscle, Smooth / pathology*
  • Mydriasis / complications*
  • Mydriasis / pathology
  • Urinary Bladder / abnormalities*
  • Urinary Bladder / pathology
  • Young Adult

Supplementary concepts

  • Megacystis microcolon intestinal hypoperistalsis syndrome
  • Mydriasis, Congenital