Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

Abstract

Objectives: Describe clinical characteristics, management, and outcome 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 transplant and intestinal rehabilitation center over a period of 17 years. Results: We identified 25 patients with MMIHS (68% girls, 13 transplanted). One transplanted and 1 nontransplanted patient were lost to follow-up. We estimated 100, 100, and 86% for 5-, 10-, and 20-year survival, respectively, with only 1 death. Of the 22 patients alive at the time of study (11 transplanted, 11 nontransplanted), median age was 9.2 years (range 2.7–22.9 years). Longest posttransplant follow-up was 16 years. Seventeen patients had available prenatal imaging reports; all showed distended bladder. Eight had genetic testing (5, ACTG2; 2, MYH11; 1, MYL9). Almost all patients had normal growth with median weight z-score −0.77 (interquartile range −1.39 to 0.26), height z score −1.2 (−2.04 to −0.48) and body mass index z-score 0.23 (−0.37 to 0.93) with no statistical difference between transplanted and nontransplanted patients. All nontransplanted patients were on parenteral nutrition with minimal/no feeds, and all except 1 of the transplanted patients were on full enteral feeds. Recent average bilirubin, INR, albumin, and creatinine fell within the reference ranges. Conclusions: This is the largest single-center case series with the longest duration of follow-up for MMIHS patients. In the current era of improved intestinal rehabilitation and transplantation, MMIHS patients have excellent outcomes in survival, growth, and liver function. This observation contradicts previous reports and should alter counselling and management decisions in these patients at diagnosis.

Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS): challenges in diagnosis and management

“…MMIHS patients frequently undergo surgical procedures early for bowel decompression including gastrostomy, ileostomy, jejunostomy and colostomy. Gastrostomy tubes are of great importance for these patients as they allow a non-functional stomach to decompress, reduce nausea and vomiting, and limit the development of oral aversion 13. The need for these surgical interventions should be carefully evaluated and should be individualised to avoid unnecessary procedures.…”

“…The survival of these patients has significantly increased postintestinal transplantation (100%, 100% and 86% at 5, 10 and 20 years). All non-transplanted patients are on parenteral nutrition 13…”

The Diverse Phenotype of Intestinal Dysmotility Secondary to ACTG2‐related Disorders

“…Limitations to our study include the possibility of selection bias in the publications of rare diseases and the fact that after the completion of this review, additional mutations have been described (25,34), highlighting the evolving data generation in ACTG2related disorders. The small number of patients included in each study represents an important challenge for drawing definitive conclusions and conducting statistical analysis in some cases.…”

From intestinal failure to transplantation: Review on the current need for transplant indications under multidisciplinary transplant programs worldwide

“…Some still advocate for tapering procedures in these patients when significant dilation occurs to help with symptomatic relief. Certainly, the more common procedures performed in these children involve methods of decompression such as placement of a gastrostomy tube and decompressing ileostomy 65,66 . However, the heterogeneity of clinical phenotypes among those with motility disorders makes prescriptive surgical planning a challenge and should instead be individualized based on known anatomy and bowel function.…”