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American Journal of Medical Genetics Nov 1991We present 2 new patients with the megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), review the literature, and discuss the prenatal diagnosis and... (Review)
Review
We present 2 new patients with the megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), review the literature, and discuss the prenatal diagnosis and treatment. MMIHS, as reported in 43 cases, is usually lethal. Most children die during the first year of life, and only 3 children survived their first year. We report the 6th pair of sibs with the disease. Overall, 17 patients reported have had sibs with MMIHS or the parents were consanguineous; 4 times the parents were first, cousins, confirming that this is an autosomal recessive disorder. The present 2 children, whose parents also were first cousins, were of different sex. They had typical MMIHS with abdominal distension due to pronounced megacystis, hydronephrosis, microcolon, and microileum, involving the distal part of the ileum, malrotation of the gut, and intestinal hypoperistalsis. Neither surgery nor medical treatment was successful and the children died at the age of 19 days and 2 1/2 months, respectively. There is no cure for the disease. However, a new protkinetic drug, Cisapride might be worth trying in these cases. Prenatal ultrasound diagnosis of MMIHS might be possible.
Topics: Abnormalities, Multiple; Cisapride; Colon; Consanguinity; Female; Genes, Lethal; Genes, Recessive; Humans; Ileum; Infant, Newborn; Male; Peristalsis; Piperidines; Syndrome; Urinary Bladder
PubMed: 1785644
DOI: 10.1002/ajmg.1320410224 -
Taiwanese Journal of Obstetrics &... Jan 2024Fetal megacystis has been reported to be associated with chromosomal abnormalities, megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), obstructive... (Review)
Review
Fetal megacystis has been reported to be associated with chromosomal abnormalities, megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), obstructive uropathy, prune belly syndrome, cloacal anomalies, limb-body wall complex, amniotic band syndrome, anorectal malformations, VACTERL association (vertebral anomalies, anal atresia, cardiac malformations, tracheo-esophageal fistula, renal anomalies and limb abnormalities) and fetal overgrowth syndrome such as Bechwith-Wiedemann syndrome and Sotos syndrome. This review provides an overview of syndromic and single gene disorders associated with fetal megacystis which is useful for genetic counseling at prenatal diagnosis of fetal megacystis.
Topics: Pregnancy; Infant, Newborn; Female; Humans; Diabetes, Gestational; Fetal Macrosomia; Abnormalities, Multiple; Colon; Fetal Diseases; Urinary Bladder; Intestinal Pseudo-Obstruction; Duodenum
PubMed: 38216263
DOI: 10.1016/j.tjog.2023.11.007 -
Journal of Pediatric Gastroenterology... Apr 2021Describe clinical characteristics, management, and outcome in a cohort of megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) patients.
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.
Topics: Abnormalities, Multiple; Adolescent; Adult; Child; Child, Preschool; Colon; Female; Follow-Up Studies; Humans; Intestinal Pseudo-Obstruction; Male; Peristalsis; Pregnancy; Retrospective Studies; Urinary Bladder; Young Adult
PubMed: 33264186
DOI: 10.1097/MPG.0000000000003008 -
Minerva Pediatrica Sep 1956
Topics: Colon; Humans; Intestinal Obstruction
PubMed: 13387396
DOI: No ID Found -
Pediatric Surgery International 1999Megacystis-microcolon-intestinal hypoperistalsis syndrome is a rare congenital disorder characterized by megacystis and hypoperistalsis of the gastrointestinal tract.... (Review)
Review
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.
Topics: Abnormalities, Multiple; Colon; Esophageal Achalasia; Female; Humans; Infant, Newborn; Peristalsis; Syndrome; Urinary Bladder
PubMed: 10370043
DOI: 10.1007/s003830050575 -
Journal of Ultrasound in Medicine :... May 2018
Topics: Abnormalities, Multiple; Adult; Colon; Diagnosis, Differential; Female; Fetal Death; Humans; Intestinal Pseudo-Obstruction; Male; Pregnancy; Ultrasonography, Prenatal; Urinary Bladder
PubMed: 29027710
DOI: 10.1002/jum.14450 -
Journal de Gynecologie, Obstetrique Et... 1990The condition of "megacystis-microcolon" is a very rare condition which can now be diagnosed ante-natally due to ultrasound. The presence of a megacystis (large bladder)... (Review)
Review
The condition of "megacystis-microcolon" is a very rare condition which can now be diagnosed ante-natally due to ultrasound. The presence of a megacystis (large bladder) with increased levels of amniotic fluid makes it possible to eliminate other ante-natal causes of dilatation of the bladder and in particular when it is found in a female fetus (as it is in 80% of cases). At birth, one finds, apart from the massive dilatation of the bladder with very little effect on the upper urinary tract, a microcolon with complete absence of peristalsis. This last abnormality always leads to a catastrophic short term result because treatment is quite ineffective. Many histological studies have been carried out and these sometimes differ from one another but it is possible to think that the condition is due to pathology of neurogenic origin in the muscle of the bladder and the aetiology of this is unknown. Finally, because there have been a few familial cases, there may be a genetic element in this illness that has such a poor prognosis.
Topics: Colonic Diseases; Diagnosis, Differential; Dilatation, Pathologic; Female; Fetal Diseases; Humans; Infant, Newborn; Pregnancy; Prenatal Diagnosis; Ultrasonography; Urinary Bladder Diseases
PubMed: 2188997
DOI: No ID Found -
Journal of Pediatric Gastroenterology... Sep 2004
Topics: Abnormalities, Multiple; Adult; Colon; Female; Genes, Lethal; Genes, Recessive; Humans; Ileum; Infant, Newborn; Pregnancy; Syndrome; Ultrasonography, Prenatal; Urinary Bladder
PubMed: 15319635
DOI: 10.1097/00005176-200409000-00016 -
Journal of Neonatal Surgery 2015
PubMed: 26023535
DOI: No ID Found -
Cureus Feb 2024The megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), also known as Berdon syndrome, is a rare congenital condition that falls within the spectrum of...
The megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), also known as Berdon syndrome, is a rare congenital condition that falls within the spectrum of visceral myopathies. It is characterized by the presence of megacystis, microcolon, and hypoperistalsis, which are secondary to gastrointestinal and urinary system dysmotility. It is frequently associated with other alterations in the gastrointestinal and genitourinary tracts. Although it is possible to make the diagnosis in the prenatal period, most cases are diagnosed after birth through genetic and imaging studies. Advances in treatment have led to a progressive increase in survival rates. We present the case of a newborn with congenital alterations described prenatally and with imaging findings characteristic of the syndrome.
PubMed: 38496087
DOI: 10.7759/cureus.54255