MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME. CLINICAL CASE REPORT

  • Justė Petkevičiūtė VU Medicinos fakultetas
  • Austėja Kindurytė VU Medicinos fakultetas
  • Dalia Laužikienė VU Medicinos fakultetas, VUL SK Akušerijos ir ginekologijos centras
  • Jolita Zakarevičienė VUL SK Akušerijos ir ginekologijos centras, VU Medicinos fakultetas
DOI: https://doi.org/10.37499/LAG.657
Keywords: ACTA2 gene, gene mutation, diagnozuotas multisisteminis lygiųjų raumenų disfunkcijos sindromas esant 2 mėn. amžiaus

Abstract

In this article we represent a case history of Multisystemic smooth muscle dysfunction syndrome. During
pregnancy, because of similar changes in prenatal ultrasound a Megacystis microcolon intestinal hypoperistalsis syndrome was suspected, but after the birth this diagnosis was not confirmed. Multisystem smooth muscle dysfunction syndrome was diagnosed using postnatal genetic testing at 2 months old.

Published
2021-06-22
Issue
Vol 24 No 2 (2021)
Section
Clinical case