Megacystitis-Microcolon-Intestinal Hypoperistalsis Syndrome: A Case Report

Authors

Kelsey Soppet
Patricia J. Hogan

Document Type

Poster

Publication Date

4-21-2022

Abstract

MM is a 12-month-old female with history of chronic constipation, megacystitis, muscle weakness and failure to thrive who presented to the pediatric ED for massive abdominal distention in the setting of decreased oral intake. CT revealed severely distended bladder compressing the colon. She was admitted for concerns of dysmotility and chronic intestinal pseudo-obstruction. Prior traditional constipation therapies, celiac panel, milk-protein allergy, and Hirschsprung’s workup were negative. Neurologic workup was negative. An upper GI with small bowel follow-through revealed delayed transit constipation. Surgery performed exploratory laparotomy with intraoperative findings of malrotation and markedly dilated colon concerning for colonic pseudo-obstruction. Ladd’s procedure was performed with creation of mucus fistula and gastric tube placement. The remainder of stay was complicated by electrolyte abnormalities and feeding intolerance. Our Genetics team compiled a panel secondary to concerns for visceral myopathy and megacystitis-microcolon-intestinal hypoperistalsis syndrome (MMIHS). Genetic testing confirmed diagnosis of MMIHS with alterations detected in ACTG2 gene, the most frequent genetic variant (1). MMIHS, or Berdon’s syndrome, is a rare motility disorder of the gastrointestinal and urinary tract caused by dysfunction of smooth muscle cell membranes. Although this diagnosis used to be fatal, with mortality rates from 80-90%, improvements in TPN as well as organ transplantation have significantly improved associated morbidities (1). However, this rare disease still has a very poor prognosis secondary to risks of fulminant sepsis, malnutrition, TPN induced liver failure, or hydronephrosis induced renal failure (2). Early recognition of this disease helps minimize mortality and morbidity in these individuals. This case report is intended to help broaden differentials for the extremely constipated child to reach appropriate diagnosis rapidly, start life-saving interventions, and improve both outcomes and quality of life.

Recommended Citation

Soppet, Kelsey and Patricia J. Hogan. "Megacystitis-Microcolon-Intestinal Hypoperistalsis Syndrome: A Case Report." (2022). https://digitalrepository.unm.edu/hsc_2022_pediatric_research/7