Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome (MMIHS): Series of 4 Cases Caused by Mutation of ACTG2 (Actin Gamma 2, Smooth Muscle) Gene

MMIHS, also known as Berdon’s syndrome, is a rare disease that belongs to primary causes of CIPOS (chronic intestinal pseudoobstruction syndrome). Clinical characteristics of MMIHS are differential, but we come across the following classic symptoms: disorders of intestinal peristalsis, microcolon, and megacystis. In this article, we present a series of 4 patients with Berdon’s syndrome, in whom we managed to identify the genetic causes of MMIHS. All infants showed clinical features of bowel obstruction and dysfunction of the urinary system after birth. Two of them also manifested disorders from other systems. The prognosis for these patients is poor, but a constant betterment of management in MMIHS, in which the leading role plays TPN (total parental nutrition), causes improvement of patients’ survival.

BERDONO SINDROMO (DIDELĖS ŠLAPIMO PŪSLĖS – MAŽOS GAUBTINĖS ŽARNOS – SUMAŽĖJUSIOS ŽARNŲ PERISTALTIKOS SINDROMO) KLINIKINIS ATVEJIS

Berdono sindromas arba didelės šlapimo pūslės – mažos gaubtinės žarnos – sumažėjusios žarnų peristaltikos sindromas (angl. megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS)) yra labai retas, įgimtas ir gyvybei pavojingas sindromas, kurio tikslus paplitimas nėra žinomas. Šiame straipsnyje pristatomas Berdono sindromo klinikinis atvejis. Šio sindromo metu pasireiškia pasikartojantys dinaminio žarnyno nepraeinamumo simptomai bei šlapimo pūslės tonuso sutrikimai, sukeliantys šlapimo susilaikymą, nesant jokios distalinės obstrukcijos, kliudančios nutekėti šlapimui. Mūsų aprašomam pacientui šis sindromas buvo patvirtintas molekuliniais genetiniais metodais Japonijos Keio universitete, nustačius de novo atsiradusį ACTG2 geno c.769C>T, pArg257Cys heterozigotinį patogeninį variantą. Berdono sindromas gydomas tik simptomiškai – taikoma parenterinė mityba bei didelės šlapimo pūslės kateterizavimas.

Prenatal diagnostic and management of megacystis microcolon intestinal hypoperistalsis syndrome: A report on a rare case in Cipto Mangunkusumo Hospital, Jakarta, Indonesia

Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS) is a rare and the most severe form of functional intestinal obstruction in the newborn. The characteristic features of this congenital and fatal disease are abdominal distension, absent or decreased bowel peristalsis. Abdominal distension is a consequence of the distended, unobstructed urinary bladder with or without hydro nephrosis. Some previous reports have revealed that the typical antenatal sonographic findings are as follows: a greatly distended bladder, bilateral hydro nephrosis, and a normal amount of amniotic fluid; however, the antenatal diagnosis of this syndrome is occasionally difficult.

Megacystis-microcolon-intestinal hypoperistalsis syndrome associated with cystic fibrosis and meconium peritonitis in a female neonate 4 days of age – case report and review of the literature

We present a case of megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) in a four days old female infant who presented with abdominal distension, bilious vomiting, massive hematuria and feeding intolerance which was first interpreted as Prune Belly Syndrome (PBS), referred to our department after iatrogenic gastric and colonic perforation. Berdon syndrome or MMIHS is a rare congenital anomaly characterized by a massive enlarged bladder, distended abdomen, microcolon, functional obstruction of the gastrointestinal tract, and malrotation.