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Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital defect of the bowel and bladder that is especially rare in males. We present a case of MMIHS in a male nonidentical twin neonate who presented with abdominal distention, urinary retention, and hypoplastic bowel. The voiding cystourethrogram included in this report displays rare image of MMIHS in a male urogenital system. The constellation of clinical and imaging findings presented in this case are characteristic of MMIHS and may aid the early diagnosis of male neonates affected by this disease.

Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital and generally fatal cause of functional intestinal obstruction in the newborn. The cause of this syndrome is unknown. Familial occurrence and reports of consanguinity in MMIHS implies that genetic factors may have an important role in the pathogenesis of this syndrome. The aim of the study was to determine the consequence of consanguinity for the incidence of MMIHS. A literature search was performed using the keywords “megacystis microcolon intestinal hypoperistalsis” for studies published between 1976 and 2018. Retrieved articles, including additional studies from reference lists, were reviewed for consanguinity between parents and recurrence of MMIHS between siblings. Data were extracted for cases where familial MMIHS was present. A total of 450 patients with the diagnosis of MMIHS have been reported in the literature. There were 56 (12%) cases in which familial MMIHS was confirmed, 25 families with multiple siblings and 3 families with single affected infant. Of the 25 families with multiple siblings, 22 families had 2 siblings with confirmed MMIHS and 3 families had 3 children each with MMIHS. Consanguinity between parents was confirmed in 30 cases (18 siblings and 12 individual cases). Female-to-male ratio in the 30 patients was 4.4:1. The occurrence of MMIHS in the offspring of consanguineous parents and recurrence in siblings of healthy parents suggest that MMIHS is an autosomal recessive disorder. Pre-marital and pre-conception counselling of consanguineous populations is recommended to prevent harmful consequences.

Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital anomaly characterized by abdominal distension, distended non-obstructive urinary bladder, microcolon, and intestinal hypoperistalsis. Although facial manifestations have been reported, oral findings in MMIHS patients have never been described. Here, we report the case of a 4-year 10-month-old girl with MMIHS who visited our clinic for delayed tooth eruption. Oral examination revealed that she had a high and narrow palate, gingival hyperplasia, impacted teeth, and delayed eruption. X-ray images showed no congenital lack of primary and permanent teeth. This is the first report of oral findings of an MMIHS patient.

Key Clinical Message In the presence of megacystis in the second half of pregnancy, with increased amniotic fluid, especially in a female fetus, the most likely diagnostic result is megacystis, microcolon, intestinal hypoperistalsis syndrome, MMIHS. In these cases, the diagnosis of MMIHS should be strongly considered instead of lower urinary tract obstruction.

Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS) is a rare congenital anomaly that is considered the most severe form of functional obstruction of the gastrointestinal tract. This devastating condition is composed of non-obstructed urinary bladder, microcolon with decreased or absent intestinal peristalsis. This study was designed to describe the incidence and outcome of MMIHS.

Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disorder, acknowledged as the most debilitating form of chronic intestinal pseudoobstruction disorders. Because the disease is often fatal in the first years of life and the surviving individuals are dependent on supportive medical or surgical treatment, definite antenatal diagnosis is desirable. We report a case of prenatally diagnosed MMIHS and discuss the suspicious findings and diagnostic criteria that allow a rapid and definite prenatal diagnosis.

Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital condition, and such patients tend to present with abdominal distension, a largely dilated nonobstructive bladder, microcolon, and severe functional intestinal obstruction without structural atresia or stenosis in the neonatal period. Currently, the etiology is not well understood, and there is no specific treatment for this condition. The majority of MMIHS patients repeat the intestinal obstruction and enteritis, so they require long-term PN and drainage stomas. The prognosis remains poor.

Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a very rare congenital condition of unknown etiology. It is characterized by abdominal distension caused by a markedly distended, nonobstructed urinary bladder, microcolon, and intestinal hypoperistalsis with functional intestinal obstruction. MMIHS usually has a fatal prognosis and in most of the cases infants die within the early months of their lives; nevertheless, there are some case reports of long-term survival.

Megacystis microcolon intestinal hypoperistalsis syndrome is a very rare cause of functional intestinal obstruction in newborns. It is associated with nonobstructed distended urinary bladder, microcolon, and decreased or absent intestinal peristalsis. The prognosis is poor and most patients die early because of sepsis or total parental nutrition-related complications. This report describes a new case of megacystis microcolon intestinal hypoperistalsis syndrome associated with meconium ileus, dilated stomach, and megaesophagus. Keywords : intestinal hypoperistalsis syndrome, megacystis, microcolon

Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare intestinal dysmotility condition that also involves a dilated urinary bladder. It was believed to be an autosomal recessive condition, but genetic studies have suggested possibly an autosomal dominant inheritance pattern. Prenatal diagnosis can be challenging, but MRI and amniotic fluid/digestive fluid studies may be complementary investigations to improve diagnostic accuracy. Prognosis of MMIHS is generally poor and treatment is mostly supportive. To date, bowel transplantation remains the only viable treatment to restore bowel motility. Here we present two additional cases to contribute towards the scant literature on this condition.

Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare and severe disorder of functional obstruction affecting bladder and bowel, usually diagnosed in the neonatal period. Over 230 cases have been reported since Berdon and colleagues first described this clinical entity in 1976. The exact pathogenesis of MMIHS is unknown. Familial occurrence of MMIHS has been reported and could offer insight into the aetiology of this disease. The purpose of this study was to systematically review the published literature for the evidence of familial MMIHS and to characterise these presentations.A literature search was performed using the keywords "megacystis microcolon intestinal hypoperistalsis" (1976-2013). Retrieved articles, including additional studies from reference lists, were reviewed for consanguinity between parents and recurrence of MMIHS between siblings. Data were extracted for cases where familial MMIHS was present.A total of 47 patients were reported in which familial MMIHS was likely or confirmed. 15 sibling sets were definitively diagnosed with MMIHS (14 pairs and one set of three siblings). Four further index patients with a confirmed diagnosis and also one of the sibling pairs were reported to have a sibling in which MMIHS was probable. Consanguinity between parents was present in four of the confirmed sibling sets and in an additional seven individual cases. The outcome for familial MMIHS is generally poor. Multiple sibling fatalities were frequent and in only one family were both siblings' survivors at the time of reporting.Consanguinity between parents and recurrence in siblings indicate that MMIHS is inherited in an autosomal recessive manner. With the advent of next generation sequencing, these familial clusters may be key to determining the genetic basis for MMIHS.

Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare, often fatal condition. Infants present with a functional obstruction of the gastrointestinal tract (GI), malrotation, micro colon, and a large unobstructed bladder. MMIHS usually presents in female infants. We present a male infant diagnosed as having

Restoring abdominal wall cover and contour in children undergoing bowel and multivisceral transplantation is often challenging due to discrepancy in size between donor and recipient, poor musculature related to birth defects and loss of abdominal wall integrity from multiple surgeries. A recent innovation is the use of vascularized posterior rectus sheath to enable closure of abdomen. We describe the application of this technique in two pediatric multivisceral transplant recipients--one to buttress a lax abdominal wall in a 22-month-old child with megacystis microcolon intestinal hypoperistalsis syndrome and another to accommodate transplanted viscera in a 10-month child with short bowel secondary to gastoschisis and loss of domain. This is the first successful report of this procedure with long-term survival. The procedure has potential application to facilitate difficult abdominal closure in both adults and pediatric liver and multivisceral transplantation.

We report a case of megacystis microcolon intestinal hypoperistalsis syndrome the diagnosis of which was established antenatally by ultrasonographic examination.

Eine fetale Megacystis (Inzidenz 1:1 500) kann bereits im ersten Trimenon Ausdruck einer angeborenen Fehlbildung sein. Haufig sind Urethralklappen bei mannlichen Feten ursachlich verantwortlich, sehr viel seltener eine Urethralatresie. Als weitere Differenzialdiagnose ist das „prune-belly-Syndrom“ abzugrenzen, schwieriger pranatal zu klassifizieren ist das seltene Megacystis-Microcolon intestinale Hypoperistaltik-Syndrom (MMIHS), das im Vergleich zu den Urethralklappen jedoch eine infauste Prognose hat. Berichtet wird von einer 28j IG/0P, bei deren Feten ultrasonografisch in der 26+4 SSW erstmalig eine Megacystis von 48 mm Durchmesser und eine beidseitige Hydronephrose festgestellt wurde. Der weibliche Fet war von einer normalen Fruchtwassermenge umgeben, die sich im weiteren Verlauf zum Polyhydram­nion anderte. Die serielle Punktion der Harnblase ergab neben einem normalen Karyotyp keine Einschrankung der Nieren-Konzentrationsfahigkeit und des Eiweisverlustes. Bei immenser Zunahme des Abdomenumfanges aufgrund der 100 mm grosen Harnblase wurde die Sectio caesarea in der 36+0SSW durchgefuhrt. Die Harnblase lies sich post partum leicht sondieren, allerdings war eine Ernahrung nicht moglich, sodass nach radiologischen Untersuchungen die Diagnose eines MMIHSs gestellt wurde. Bei ultrasonografisch gesehener fetaler Megacystis sollte, gerade in Kombination mit einem Polyhydramnion und einem weiblichen Feten, an das seltene letal verlaufene Megacystis-Microcolon intestinale Hypoperistaltik-Syndrom gedacht werden.

We discuss a third-trimester diagnosis of Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) using magnetic resonance imaging (MRI) and consider the benefits of MRI as a noninvasive imaging technique after routine ultrasonography reveals genitourinary pathology requiring further elucidation. MMIHS is a rare cause of functional gastrointestinal and genitourinary obstruction in newborns. Because of the poor prognosis of MMIHS, prenatal diagnosis is warranted for optimal prenatal counseling and postnatal treatment. Although MMIHS commonly presents on ultrasonography, the limitations of ultrasonography make definitive diagnosis difficult. However, MRI is safe, accurate, and can be used for early prenatal diagnoses of multisystem diseases.

Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a multisystemic disorder in which impaired intestinal motor activity causes recurrent symptoms of intestinal obstruction in the absence of mechanical occlusion, associated with bladder distention without distal obstruction of the urinary tract. MMIHS and prune belly syndrome may overlap in most of the clinical features and discrimination of these two entities is important because the prognosis, management and consulting with parents are completely different. MMIHS outcome is very poor and in this article we present two neonates with MMIHS that both died in a few days.

MMIHS is a rare congenital disease. It is characterized by distended urinary bladder, small colon and intestinal hypoperistalsis, or aperistalsis with normal morphology. There is no specific treatment for MMIHS, and most patients have to be maintained by TPN, which frequently causes TPN-related liver failure, loss of venous access, or catheter-related sepsis. The prognosis of patients with MMIHS is poor, and most patients die early. Multivisceral transplantation including stomach, duodenum, intestine, and liver has been used for the treatment of patients with MMIHS because these patients often have liver failure. We report an eight-yr-old patient with MMIHS who was treated with isolated intestinal transplantation. She had completely oral intake during the four yr of follow-up. The experience in this case suggests isolated intestinal transplantation may be indicated in selected cases with MMIHS.

Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare and the most severe form of functional intestinal obstruction in the newborn. This congenital condition is associated with non-obstructed urinary bladder, microcolon and decreased or absent intestinal peristalsis. This study was designed to determine the incidence and outcome of MMIHS.A systematic review of the literature (1976-2011) was performed for key words "megacystis microcolon intestinal hypoperistalsis". Resulting publications were reviewed for epidemiology and outcome. Reference lists were screened for additional cases.A total number of 227 MMIHS cases were reported from 1976 to 2011. A clear preponderance for female infants was found (female 70.6 vs. male 29.4%). One or more surgical interventions were reported in 115 patients (including gastrostomy, ileostomy, jejunostomy, segmental resections of small bowel, adhesiolysis and internal sphincter myectomy). For decompression of the megacystis, vesicostomy was performed in 41 patients. Outcome was reported in a total of 218 patients. Survival rate was 19.7% (survivors: n = 43, non-survivors: n = 175), the oldest survivor being 24 years old. The vast majority of the surviving patients had to be maintained by total or partial parenteral nutrition (TPN). Main causes of death were sepsis, malnutrition and multiple organ failure. Twelve multivisceral transplantations have been reported to date in patients with MMIHS. The majority of the survivors are reported to be free of parenteral nutrition and show improving gastric emptying. However, intermittent catheterisation remains obligatory due to persistent bladder dysfunction.The survival in MMIHS in recent years has improved. The majority of survivors are either maintained by TPN or have undergone multiorgan transplantations.

Megacystis Microcolon Intestinal Hypoperistalsis Syndrom (MMIHS) is a quite rare congenital and fatal disease which was firstly defined by Berdon and his colleagues. It appears through a widely enlarged bladder and microcolon and its cause is unknown (Berdon et al., 1976; Carmelo et al., 2005; Makhija et al., 1999; Loening-Baucke and Kimura 1999; Redman et al., 1984; Hsu et al., 2003; Yigit et al., 1996; Srikanth et al., 1993). The disease is found in females three or four times more than in males (Srikanth et al., 1993; Sen et al., 1993; Hirato et al., 2003). Most of the cases die within the early months of their lives (Yigit et al., 1996; Srikanth et al., 1993; Sen et al., 1993; Hirato et al., 2003). We present the case of a female newborn with antenatal ultrasound revealing intestinal mass and bilateral hydroureteronephrosis. The case was admitted for intestinal obstruction after birth. Copyright (C) 2009 Mehmet Melek et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

But: Rapporter une forme familiale de MMIHS avec une etude particuliere du diagnostic antenatal et de la genetique. Methode: Deux cas sont rapportes et une revue de la litterature est realisee. Resultats: Le premier-ne de cette famille etait une fille avec un diagnostic post-natal de MMIHS. Lors de la grossesse suivante, des echographies antenatales etait realisees avec une grande regularite qui montraient une anatomie normale du foetus jusqu'a la 19eme semaine de gestation. La grossesse etait poursuivie et, a 36 semaines de gestation, une dilatation du systeme collecteur renal et une dilatation des anses intestinales etaient evocatrices de MMIHS. Conclusion: Le diagnostic prenatal demeure difficile. Des investigations complementaires de cette affection, sur le plan genetique, sont necessaires et seraient un outil important dans les conseils aux parents ayant un enfant affecte pour ameliorer la prise en charge des autres enfants lors des grossesses ulterieures. Une etude multicentrique serait extremement utile pour de futures recherches.

Megacystis on antenatal scan in female fetuses is rare and has serious diagnostic implications. We report two cases of megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) in female infants in whom antenatal scan abnormalities were identified, but the diagnosis not made until after delivery. MMIHS is a rare autosomal recessive condition which is usually lethal in the first year of life. Prenatal diagnosis is hampered by the lack of specific diagnostic findings on ultrasound and the absence of an identified genetic locus. The prenatal findings in MMIHS are reviewed and contrasted with those of other causes of lower abdominal masses on antenatal ultrasound.

Megacystis-microcolon-intestinal hypoperistalsis syndrome is a rare congenital disorder characterized by megacystis and hypoperistalsis of the gastrointestinal tract. About 80 cases have been reported, predominantly in females. We present a female newborn with typical features of the syndrome associated with megaesophagus.

Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disorder characterized by a dilated, non-obstructive urinary bladder and hypoperistalsis of the gastrointestinal tract, which is considered lethal. About 90 patients have been reported, predominantly female. We present the case of a female newborn with MMIHS in whom antenatal ultrasound was suggestive for the diagnosis, which was confirmed after delivery. Diagnostic features by antenatal ultrasound are described.

Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a quite rare congenital and fatal disease. The disease is three to four times more prevalent in females than males. Most of the cases die within the early months of their lives. We present the case of a newborn male with antenatal ultrasound suggesting the diagnosis of MMIHS. The case was admitted for perforation complicated with prematurity after birth. This case is th e only one where MMIHS presented as perforation.

Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a neonatal intestinal syndrome, characterized by defective peristalsis and bladder dilatation, refractory to pharmacological treatment. Examinations of bowel and bladder have failed to demonstrate a pathological explanation for this syndrome. We describe a 7-month-old female infant with MMIHS who had generalized axonal dystrophy of her central, peripheral, and autonomic nervous systems, which may provide a neuropathological explanation for some cases of MMIHS.