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BMJ Case Reports May 2013Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a multisystemic disorder in which impaired intestinal motor activity causes recurrent symptoms of...
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.
Topics: Abnormalities, Multiple; Colon; Female; Humans; Infant, Newborn; Intestinal Pseudo-Obstruction; Prognosis; Urinary Bladder
PubMed: 23729700
DOI: 10.1136/bcr-2012-007524 -
Clinical Genetics Sep 2020Megacystis-microcolon-intestinal-hypoperistalsis syndrome (MMIHS) is a severe congenital visceral myopathy characterized by an abdominal distension due to a large...
Megacystis-microcolon-intestinal-hypoperistalsis syndrome (MMIHS) is a severe congenital visceral myopathy characterized by an abdominal distension due to a large non-obstructed urinary bladder, a microcolon and intestinal hypo- or aperistalsis. Most of the patients described to date carry a sporadic heterozygous variant in ACTG2. More recently, recessive forms have been reported and mutations in MYH11, LMOD1, MYLK and MYL9 have been described at the molecular level. In the present report, we describe five patients carrying a recurrent heterozygous variant in ACTG2. Exome sequencing performed in four families allowed us to identify the genetic cause in three. In two families, we identified variants in MMIHS causal genes, respectively a nonsense homozygous variant in MYH11 and a previously described homozygous deletion in MYL9. Finally, we identified compound heterozygous variants in a novel candidate gene, PDCL3, c.[143_144del];[380G>A], p.[(Tyr48Ter)];[(Cys127Tyr)]. After cDNA analysis, a complete absence of PDLC3 expression was observed in affected individuals, indicating that both mutated transcripts were unstable and prone to mediated mRNA decay. PDCL3 encodes a protein involved in the folding of actin, a key step in thin filament formation. Presumably, loss-of-function of this protein affects the contractility of smooth muscle tissues, making PDCL3 an excellent candidate gene for autosomal recessive forms of MMIHS.
Topics: Abnormalities, Multiple; Aborted Fetus; Actins; Carrier Proteins; Colon; Female; Genetic Predisposition to Disease; Homozygote; Humans; Infant, Newborn; Intestinal Pseudo-Obstruction; Male; Mutation; Myosin Heavy Chains; Myosin Light Chains; Nerve Tissue Proteins; Pedigree; Urinary Bladder; Exome Sequencing
PubMed: 32621347
DOI: 10.1111/cge.13801 -
Case Reports in Gastrointestinal... 2021MMIHS, also known as Berdon's syndrome, is a rare disease that belongs to primary causes of CIPOS (chronic intestinal pseudoobstruction syndrome). Clinical...
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.
PubMed: 33859849
DOI: 10.1155/2021/6612983 -
Neurogastroenterology and Motility Jan 2023Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare and serious congenital disorder with poor outcomes, where a heterozygous missense mutation is...
BACKGROUND
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare and serious congenital disorder with poor outcomes, where a heterozygous missense mutation is present in the ACTG2 gene. Here, we aimed to investigate the pathogenesis of ACTG2 in MMIHS.
METHODS
A cohort with 20 patients with MMIHS was screened. Actg2 heterozygous mutant mice were generated using the CRISPR/Cas9 system. Gastrointestinal (GI) motility, voluntary urination, collagen gel contraction, and G-actin/F-actin analysis were performed.
KEY RESULTS
The R257C variant of ACTG2 most frequently occurred in patients with MMIHS and demonstrated the typical symptoms of MMIHS. Actg2 heterozygous mutant mice had dilated intestines and bladders. The functional assay showed a prolonged total time of GI transit and decreased urine spot area. Collagen gel contraction assay and G-actin/F-actin analysis indicated that mutant mice showed reduced area of contraction of smooth muscle cells (SMCs) and impaired actin polymerization.
CONCLUSIONS & INFERENCES
A mouse model demonstrating MMIHS-like symptoms was generated. The Actg2 heterozygous variant impairs SMCs contraction by interfering with actin polymerization, leading to GI motility disorders.
Topics: Animals; Mice; Abnormalities, Multiple; Actins; Colon; Intestinal Pseudo-Obstruction; Phenotype; Humans
PubMed: 36264152
DOI: 10.1111/nmo.14472 -
Anales Espanoles de Pediatria Jun 2001
Topics: Colonic Pseudo-Obstruction; Female; Humans; Infant, Newborn; Intestines; Peristalsis; Syndrome; Urinary Bladder Diseases
PubMed: 11412421
DOI: No ID Found -
Journal de Gynecologie, Obstetrique Et... Sep 2004Megacystis on antenatal scan in female fetuses is rare and has diagnostic implications. We report a case of megacystis-microcolon-intestinal hypoperistalsis syndrome... (Review)
Review
Megacystis on antenatal scan in female fetuses is rare and has diagnostic implications. We report a case of megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) in a female infant. The antenatal scan revealed abnormalities, but the diagnosis was not established until after delivery. MMIH 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 ultrasound findings and the absence of an identified genetic locus.
Topics: Colon; Female; Gestational Age; Humans; Intestinal Diseases; Peristalsis; Pregnancy; Syndrome; Ultrasonography, Prenatal; Urinary Bladder
PubMed: 15480285
DOI: 10.1016/s0368-2315(04)96553-2 -
Pediatrics May 1979
Topics: Colon; Female; Gastrointestinal Motility; Humans; Infant, Newborn; Intestinal Obstruction; Peristalsis; Syndrome; Urinary Bladder Diseases
PubMed: 440907
DOI: No ID Found -
A.M.A. American Journal of Diseases of... Sep 1951
Topics: Colon; Humans; Intestinal Obstruction
PubMed: 14867791
DOI: 10.1001/archpedi.1951.02040040361009 -
Megacystis microcolon intestinal hypoperistalsis syndrome: A report of a nationwide survey in Japan.Journal of Pediatric Surgery Dec 2015Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare condition with a poor outcome. A nationwide survey was conducted to identify the clinical...
BACKGROUND
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare condition with a poor outcome. A nationwide survey was conducted to identify the clinical features and outcomes of MMIHS in Japan.
METHODS
Data were collected via a questionnaire, which was sent to 353 pediatric/pediatric surgical departments in Japan.
RESULTS
Of the 28 patients registered as having a certain diagnosis of MMIHS, 19 (male/female, 3/16) patients were analyzed. All of the patients developed functional bowel obstruction in the neonatal period and showed a distended bladder and microcolon in the radiological examination. A histopathology assessment of the full-thickness of intestinal specimens showed no pathological abnormalities in all patients. Although various medications were given, the patients did not show significant improvement. Drainage stomas were created in the jejunum (n=11) and colon (n=5). Sixteen patients were maintained by parenteral nutrition (PN). Nine patients died of sepsis or liver failure. The five- and ten-year survival rates were 63% and 57%, respectively.
CONCLUSIONS
MMIHS patients developed severe functional intestinal obstruction in the neonatal period and had no specific therapeutic intervention. The majority of MMIHS patients required long-term PN. Small bowel or multivisceral transplantation may be necessary to improve the outcome of this condition.
Topics: Abnormalities, Multiple; Adolescent; Child; Child, Preschool; Colon; Female; Health Surveys; Humans; Infant; Infant, Newborn; Intestinal Pseudo-Obstruction; Japan; Male; Surveys and Questionnaires; Survival Rate; Urinary Bladder; Young Adult
PubMed: 26413901
DOI: 10.1016/j.jpedsurg.2015.08.026