Visceral myopathy in a newborn mimicking Hirschprung’s disease: a case report

Abstract

Abstract Visceral myopathy is a rare smooth muscle disorder with highly variable clinical manifestations characterized by chronic gastrointestinal and urinary dysfunction. Studies over the years have partially unraveled the underlying mechanisms and pathogenesis, proposing various hypotheses. In this article, we report the first case of ACTG2-related visceral myopathy in Lebanon in a newborn who presented with intestinal obstruction and colonic dysmotility. Genetic testing confirmed a de novo heterozygous pathogenic ACTG2 variant: NM_001615.3: c.769C > T (p. Arg257Cys). This case highlights the need for early genetic testing in unexplained motility disorders in neonates in order to optimize management and counseling.

Keywords

• ACTG2 gene
• Visceral myopathy
• Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS)
• Chronic intestinal pseudo obstruction (CIPO)
• Berdon syndrome