Megacystis Microcolon Intestinal Hypoperistalsis Syndrome: A Case Series with Long Term Follow Up and Prolonged Survival
1Division of Pediatric Gastroenterology, Hepatology and Nutrition, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, 2Hillman Center for Pediatric Transplantation, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA
Meeting: 2020 American Transplant Congress
Abstract number: C-325
Keywords: Intestinal transplantation, Short gut syndrome
Session Information
Session Name: Poster Session C: Small Bowel: All Topics
Session Type: Poster Session
Date: Saturday, May 30, 2020
Session Time: 3:15pm-4:00pm
Presentation Time: 3:30pm-4:00pm
Location: Virtual
*Purpose: To describe clinical characteristics, management and survival in a cohort of Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) patients.
*Methods: We conducted a retrospective chart review of MMIHS patients followed at a large tertiary hospital over a period of 17 years.
*Results: A total of 25 MMIHS patients were identified (68% females, 13 transplanted). One patient each from the transplanted and non-transplanted group were lost to follow-up. One transplanted patient died during the review period (Cumulative survival 96%). Of the remaining 22 patients (11 transplanted, 11 non-transplanted), the median age was 9.2 years (range 2.7-22.9 years). The longest duration of follow up after transplant was 16 years. Of the 22, all 17 patients with available prenatal imaging reports were abnormal (distended bladder). Eight had genetic testing (5-ACTG2, 2-MYH11, 1-MYL9). Almost all patients were noted to have nearly normal growth with a median weight z-score -0.77 (interquartile range -1.39, 0.26), height z-score -1.2 (-2.04, -0.48) and Body-Mass-Index z-score 0.23 (-0.37, 0.93) with no statistical difference between transplanted and non-transplanted patients. All non-transplanted patients were on parenteral nutrition with minimal/no feeds, and all except one of the transplanted patients were on full enteral feeds. Recent laboratory results showed that all patients had relatively normal average bilirubin, INR, albumin and creatinine.
*Conclusions: This is one of the largest case series of MMIHS patients describing the longest duration of follow up for both transplanted and non-transplanted patients. Contrary to the reported literature, our results suggest excellent survival rates in the current era of intestinal rehabilitation and transplantation. In addition, nearly all patients were able to achieve normal growth parameters and organ function. This case series suggests markedly improved outcomes of MMIHS patients when compared to the reported literature and should alter counselling and management decisions in these patients at the time of diagnosis.
To cite this abstract in AMA style:
Prathapan KM, Raghu V, Ganoza A, Ackerman K, Presel T, Yaworski JA, Sevilla W, King D, Rudolph J, Alissa F. Megacystis Microcolon Intestinal Hypoperistalsis Syndrome: A Case Series with Long Term Follow Up and Prolonged Survival [abstract]. Am J Transplant. 2020; 20 (suppl 3). https://atcmeetingabstracts.com/abstract/megacystis-microcolon-intestinal-hypoperistalsis-syndrome-a-case-series-with-long-term-follow-up-and-prolonged-survival/. Accessed May 11, 2025.« Back to 2020 American Transplant Congress