Urologic Phenotype and Patterns of Care in Patients With Megacystis Microcolon Intestinal Hypoperistalsis Syndrome Presenting to a Major Pediatric Transplantation Center

• Published in: Urology (Ridgewood, N.J.) Vol. 119; pp. 127 - 132
• Main Authors: Hugar, Lee A., Chaudhry, Rajeev, Fuller, Thomas W., Cannon, Glenn M., Schneck, Francis X., Ost, Michael C., Stephany, Heidi A.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.09.2018
• Subjects: Abnormalities, Multiple - genetics; Abnormalities, Multiple - surgery; Colon - abnormalities; Colon - surgery; Female; Hospitals, Pediatric; Humans; Infant; Intestinal Pseudo-Obstruction - genetics; Intestinal Pseudo-Obstruction - surgery; Intestines - transplantation; Male; Phenotype; Retrospective Studies; Urinary Bladder - abnormalities; Urinary Bladder - surgery
• ISSN: 0090-4295; 1527-9995
• DOI: 10.1016/j.urology.2018.05.002

To describe the phenotype, referral pattern, and trends of urologic management for children with megacystis microcolon intestinal hypoperistalsis syndrome. We performed a retrospective review of all patients with megacystis microcolon intestinal hypoperistalsis syndrome treated at a large tertiary children's medical center over a 14-year period. Our primary outcomes included the rate of urology referral, urodynamic characteristics of bladder function, and the proportion of patients managed with clean intermittent catheterization. Twenty-six patients were evaluated at our institution with a median age at presentation of 1.3 years (73% female, 19 of 26). Most patients presented for intestinal transplantation evaluation and were dependent on parenteral nutrition. Megacystis was diagnosed prenatally in 15 patients and postnatally in 11 patients. Twenty patients (77%, 20 of 26) were evaluated by a pediatric urologist. Six patients (23%, 6 of 26) had varying degrees of vesicoureteral reflux. Early bladder management consisted of clean intermittent catheterization in 13 patients and vesicostomy in 8 patients. Megacystis microcolon intestinal hypoperistalsis syndrome is a severe form of intestinal failure and bladder atony with substantial urologic morbidity. Parents should be counseled accordingly and prompt urologic consultation should be included in the multidisciplinary approach to these complex patients.