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Surgery Today Sep 2023Hirschsprung disease (HSCR) and its associated disorders (AD-HSCR) often result in severe hypoperistalsis caused by enteric neuropathy, mesenchymopathy, and myopathy.... (Review)
Review
Hirschsprung disease (HSCR) and its associated disorders (AD-HSCR) often result in severe hypoperistalsis caused by enteric neuropathy, mesenchymopathy, and myopathy. Notably, HSCR involving the small intestine, isolated hypoganglionosis, chronic idiopathic intestinal pseudo-obstruction, and megacystis-microcolon-intestinal hypoperistalsis syndrome carry a poor prognosis. Ultimately, small-bowel transplantation (SBTx) is necessary for refractory cases, but it is highly invasive and outcomes are less than optimal, despite advances in surgical techniques and management. Thus, regenerative therapy has come to light as a potential form of treatment involving regeneration of the enteric nervous system, mesenchyme, and smooth muscle in affected areas. We review the cutting-edge regenerative therapeutic approaches for managing HSCR and AD-HSCR, including the use of enteric nervous system progenitor cells, embryonic stem cells, induced pluripotent stem cells, and mesenchymal stem cells as cell sources, the recipient intestine's microenvironment, and transplantation methods. Perspectives on the future of these treatments are also discussed.
PubMed: 37668735
DOI: 10.1007/s00595-023-02741-6 -
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 chromosomal abnormalities associated with fetal megacystis which is useful for genetic counseling and fetal therapy at prenatal diagnosis of fetal megacystis.
Topics: Pregnancy; Infant, Newborn; Female; Humans; Diabetes, Gestational; Fetal Macrosomia; Abnormalities, Multiple; Chromosome Aberrations; Urinary Bladder; Duodenum; Fetal Diseases
PubMed: 38216262
DOI: 10.1016/j.tjog.2023.11.006 -
Pediatric Surgery International May 2024Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a well described clinical condition, but reports are focused on microcolon and intestinal...
PURPOSE
Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a well described clinical condition, but reports are focused on microcolon and intestinal hypoperistalsis, while data on bladder management are scant. Aim of the study is to present urological concerns in MMIHS.
METHODS
Retrospective evaluation of clinical data on urological management of MMIHS patients treated in the last 10 years.
RESULTS
Six patients were enrolled (3 male, 3 female). Three girls had prenatal diagnosis of megacystis (1 vesicoamniotic shunt was placed). All patients had genetic diagnosis: 5 had ACTG2 gene mutations and 1 MYH11 mutation. All patients were addressed to our attention for urinary symptoms, such as urinary retention, urinary tract infections, acute renal injury. Two patients presented frequent stoma prolapses. All children underwent a complete urological evaluation, and then started a bladder management protocol (clean intermittent catheterization, via urethra or cystostomy-tube placement), with improvement of urinary infections, upper urinary tract dilation and stoma prolapses, if present. All patients had good renal function at last follow-up.
CONCLUSION
We believe that MMIHS patients must be addressed soon and before onset of symptoms for a multidisciplinary evaluation, including an early assessment by a pediatric urologist expert in functional disorder, to preserve renal function at its best.
Topics: Humans; Female; Retrospective Studies; Male; Abnormalities, Multiple; Colon; Urinary Bladder; Infant; Intestinal Pseudo-Obstruction; Infant, Newborn; Child, Preschool; Mutation
PubMed: 38713441
DOI: 10.1007/s00383-024-05711-2 -
Clinical Journal of Gastroenterology Jun 2024Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is an uncommon genetic disorder inherited in an autosomal recessive pattern that affects the muscles... (Review)
Review
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is an uncommon genetic disorder inherited in an autosomal recessive pattern that affects the muscles that line the bladder and intestines. The most common genes associated with MMIHS mutations are ACTG2, LMOD1, MYH11, MYL9, MYLK, and PDCL3. However, the complete genetic landscape of MMIHS still needs to be fully understood. The diagnosis of MMIHS can be challenging. However, advances in prenatal and diagnostic techniques, such as ultrasound and fetal urine analysis, have improved the ability to detect the syndrome early. Targeted next-generation sequencing (NGS) and other diagnostic tests can also diagnose MMIHS. The management of MMIHS involves addressing severe intestinal dysmotility, which often necessitates total parenteral nutrition (TPN), which can lead to complications such as hepatotoxicity and nutritional deficiencies. Multivisceral and intestinal transplantation has emerged as therapeutic options, offering the potential for improved outcomes and enteral autonomy. Understanding the genetic underpinnings of MMIHS is crucial for personalized care. While the prognosis varies, timely interventions and careful monitoring enhance patient outcomes. Genetic studies have given us valuable insights into the molecular mechanisms of MMIHS. These studies have identified mutations in genes involved in the development and function of smooth muscle cells. They have also shown that MMIHS is associated with defects in the signaling pathways that control muscle contraction. Continued research in the genetics of MMIHS holds promise for unraveling the complexities of MMIHS and improving the lives of affected individuals.
Topics: Humans; Intestinal Pseudo-Obstruction; Urinary Bladder; Colon; Mutation; Abnormalities, Multiple; High-Throughput Nucleotide Sequencing
PubMed: 38461165
DOI: 10.1007/s12328-024-01934-x -
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 -
Radiographics : a Review Publication of... Jan 2024Fetal genitourinary anomalies can present a diagnostic challenge for the radiologist. The absence of a normally located kidney may represent agenesis or be secondary to...
Fetal genitourinary anomalies can present a diagnostic challenge for the radiologist. The absence of a normally located kidney may represent agenesis or be secondary to a fusion or migration abnormality. A dilated renal pelvis should prompt evaluation for a specific cause, including ureteropelvic junction obstruction, reflux, or an obstructed duplicated system. Cystic parenchymal changes are characteristic of a multicystic dysplastic kidney but may also be seen in obstructive cystic dysplasia. There are numerous causes of megacystis including chromosomal (trisomy 18 syndrome), obstruction (posterior urethral valves, urethral atresia), or muscular dysfunction (prune belly syndrome, megacystis microcolon intestinal hypoperistalsis syndrome). Important mimics of a large bladder include hydrocolpos and urogenital sinus or cloacal malformation. Complications of genitourinary malformations are common and include oligohydramnios, urinary ascites, and urinoma. Making an accurate diagnosis often requires additional US views beyond those obtained in the standard fetal survey and occasionally performing fetal MRI. The appropriate use of orthogonal T2-weighted sequences, in conjunction with diffusion-weighted images for evaluation of the kidneys and gradient-recalled-echo sequences for evaluation of T1-hyperintense meconium in the colon, can play an integral role in diagnosis. Accurate diagnosis of fetal genitourinary malformations is vital to direct patient counseling and pregnancy management as outcomes are highly variable. Some conditions can be surgically corrected quite simply, some require multiple complex procedures, and some are lethal. The authors offer troubleshooting tips to narrow the differential diagnosis for four observations: unilateral absent kidney, dilated renal pelvis, cystic renal parenchyma, and megacystis and its mimics. RSNA, 2023 Test Your Knowledge questions are available in the Online Learning Center.
Topics: Pregnancy; Female; Humans; Ultrasonography, Prenatal; Fetal Diseases; Urogenital Abnormalities; Urinary Bladder
PubMed: 38127660
DOI: 10.1148/rg.230084 -
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 -
Journal of Indian Association of... 2023A 5-day-old male presented with bilious vomiting, a grossly distended abdomen, and passage of a small amount of stool. The anal opening was at a normal position. X-ray...
A 5-day-old male presented with bilious vomiting, a grossly distended abdomen, and passage of a small amount of stool. The anal opening was at a normal position. X-ray abdomen showed a large bowel loop with a single air-fluid level occupying more than half of the abdominal width. On laparotomy, the ascending colon was dilated to form a pouch-like structure, and the ileum and appendix were opening into it. Colon distal to pouch was present as microcolon. Histopathology of the dilated segment was suggestive of congenital segmental dilatation (CSD). In CSD, the distal bowel is of normal caliber. This is a rare case of CSD of ascending colon with distal microcolon.
PubMed: 38173636
DOI: 10.4103/jiaps.jiaps_132_23 -
BMJ Case Reports Apr 2024Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare, congenital functional intestinal obstruction, characterised by megacystis (bladder...
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare, congenital functional intestinal obstruction, characterised by megacystis (bladder distention in the absence of mechanical obstruction), microcolon and intestinal hypoperistalsis (dysmotility).We are reporting a case of a female child with normal antenatal course who presented with recurrent episodes of abdominal distension since the second day of life and underwent negative exploratory laparotomy on multiple occasions. She also had urinary retention with a grossly distended bladder, requiring drainage by clean intermittent catheterisation. Surgical procedures for bowel decompression, including gastrostomy and ileostomy, were carried out without success. Genetic analysis revealed a mutation in the human smooth muscle (enteric) gamma-actin gene (ACTG2 gene), clinching the diagnosis of MMIHS. The patient was managed with parenteral nutrition and prokinetic medications and tolerated jejunostomy feeds for a brief period before she succumbed to the illness.Female neonates or infants presenting with abdominal distension and dilated urinary tract should be investigated for MMIHS early on. A timely diagnosis will enable the early involvement of a multidisciplinary team to provide the best options available for management.
Topics: Infant; Infant, Newborn; Child; Humans; Female; Pregnancy; Urinary Bladder; Intestinal Pseudo-Obstruction; Abnormalities, Multiple; Fetal Diseases; Colon; Urinary Retention; Peristalsis
PubMed: 38627049
DOI: 10.1136/bcr-2024-259983 -
Archives of Gynecology and Obstetrics Jan 2024To assess the spectrum of underlying pathologies, the intrauterine course and postnatal outcome of 46 fetuses with megacystis that underwent intrauterine vesico-amniotic...
OBJECTIVES
To assess the spectrum of underlying pathologies, the intrauterine course and postnatal outcome of 46 fetuses with megacystis that underwent intrauterine vesico-amniotic shunting (VAS) with the Somatex® shunt in a single center.
METHODS
Retrospective analysis of 46 fetuses with megacystis that underwent VAS either up to 14 + 0 weeks (early VAS), between 14 + 1 and 17 + 0 weeks (intermediate VAS) or after 17 + 0 weeks of gestation (late VAS) in a single tertiary referral center. Intrauterine course, underlying pathology and postnatal outcome were assessed and correlated with the underlying pathology and gestational age at first VAS.
RESULTS
46 fetuses underwent VAS, 41 (89%) were male and 5 (11%) were female. 28 (61%) fetuses had isolated and 18 (39%) had complex megacystis with either aneuploidy (n = 1), anorectal malformations (n = 6), cloacal malformations (n = 3), congenital anomalies overlapping with VACTER association (n = 6) or Megacystis-Microcolon Intestinal-Hypoperistalsis Syndrome (MMIHS) (n = 2). The sonographic 'keyhole sign' significantly predicted isolated megacystis (p < 0.001). 7 pregnancies were terminated, 4 babies died in the neonatal period, 1 baby died at the age of 2.5 months and 34 (74%) infants survived until last follow-up. After exclusion of the terminated pregnancies, intention-to-treat survival rate was 87%. Mean follow-up period was 24 months (range 1-72). The underlying pathology was highly variable and included posterior urethral valve (46%), hypoplastic or atretic urethra (35%), MMIHS or prune belly syndrome (10%) and primary vesico-ureteral reflux (2%). In 7% no pathology could be detected postnatally. No sonographic marker was identified to predict the underlying pathology prenatally. 14 fetuses underwent early, 24 intermediate and 8 late VAS. In the early VAS subgroup, amnion infusion prior to VAS was significantly less often necessary (7%), shunt complications were significantly less common (29%) and immediate kidney replacement therapy postnatally became less often necessary (0%). In contrast, preterm delivery ≤ 32 + 0 weeks was more common (30%) and survival rate was lower (70%) after early VAS compared to intermediate or late VAS. Overall, 90% of liveborn babies had sufficient kidney function without need for kidney replacement therapy until last follow-up, and 95% had sufficient pulmonary function without need for mechanical respiratory support. 18% of babies with complex megacystis suffered from additional health restrictions due to their major concomitant malformations.
CONCLUSIONS
Our data suggest that VAS is feasible from the first trimester onward. Early intervention has the potential to preserve neonatal kidney function in the majority of cases and enables neonatal survival in up to 87% of cases. Despite successful fetal intervention, parents should be aware of the potential of mid- or long-term kidney failure and of additional health impairments due to concomitant extra-renal anomalies that cannot be excluded at time of intervention.
Topics: Pregnancy; Infant, Newborn; Infant; Humans; Male; Female; Retrospective Studies; Amnion; Ultrasonography, Prenatal; Fetus; Urethra
PubMed: 36604332
DOI: 10.1007/s00404-022-06905-6