Three patients had megacystis microcolon
intestinal hypoperistalsis (MMIH), 2 had intestinal neuronal dysplasia (IND), 2 had Waardenburg syndrome (WS), and 1 had enteric anendocrinosis (EA), while the etiological cause could not be found for 5 patients.
The shared patient was a 7-year-old who underwent multiorgan (liver, small bowel, and pancreas) transplantation because of megacystis microcolon
intestinal hypoperistalsis syndrome, a rare congenital condition characterized by a largely dilated nonobstructed urinary bladder (megacystis), very small colon (microcolon
), and decreased or absent intestinal movements (intestinal peristalsis).
Multiple phenotypes of ACTG2 related disorders have been described including megacystis microcolon
intestinal hypoperistalsis syndrome (MMIHS), prune belly sequence, and chronic intestinal pseudoobstruction (CIPO).
In the literature, cases of congenital mydriasis accompanied by coronary artery disease, aortic aneurism, smooth muscle cell dysfunction (6), gene mutations (ACTA2) (7), Prune Belly syndrome (7), septo-optic dysplasia which may be observed in association with cerebrovascular diseases (8) and megacystic microcolon
intestinal hypoperistaltism syndrome (9) have been reported.
Connie Taylor, who has a twin brother, was told she would survive just six to nine months after being diagnosed with megacystic microcolon
intestinal hypo-peristalysis syndrome.
Her daughter, who is set to turn nine next month, was born with Megacystic Microcolon
Intestinal Hypo-peristalysis Syndrome.
Of the foetuses with Hydronephrosis, 3 had Posterior urethral valve, one as a part of Megacystis Microcolon
On the second day of life, a contrast enema was performed, demonstrating a microcolon
with the cecum and appendix located in the left upper quadrant, confirming malrotation (Figure 2).
intestinal hypoperistalsis syndrome (MMIHS) is a type of gastrointestinal dysmotility syndromes .
[4.] Srikanth MS, Ford EG, Isaacs H Jr, Mahour GH Megacystis microcolon
intestinal hypoperistalsis syndrome: late sequelae and possible pathogenesis.
Diagnosed with an incredibly rare digestive condition called megacystis microcolon
intestinal hypoperistalsis syndrome, little Delilah could not eat or drink normally and was unable to pass waste through her body.