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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 -
Journal of Pediatric Gastroenterology... Oct 2008
Topics: Abnormalities, Multiple; Colon; Diagnosis, Differential; Female; Gastrointestinal Motility; Humans; Hypertriglyceridemia; Infant; Infant, Newborn; Intestinal Diseases; Intestines; Liver Transplantation; Pancreas Transplantation; Peristalsis; Syndrome; Treatment Outcome
PubMed: 18852646
DOI: 10.1097/MPG.0b013e31811322e5 -
Zhonghua Minguo Xiao Er Ke Yi Xue Hui... 1991Microcolon is a radiological finding of a colon of tiny caliber on barium enema examination. There are no absolute standards for measurement of this condition which is...
Microcolon is a radiological finding of a colon of tiny caliber on barium enema examination. There are no absolute standards for measurement of this condition which is probably caused in utero by lack of appropriate distention of the colon with intramural content. A review was undertaken of 228 barium enema examinations of newborns admitted to Mackay Memorial hospital from January 1987 to December 1988. Twenty cases (8.7%) were regarded by the same radiologist as microcolon. Among them, ileal atresia was found in nine cases (45%); colonic atresia in two cases (10%); total colon agangliosis in three cases (15%); prenatal volvulus in two cases (10%); meconium ileus in two cases (10%); duplication of ileum in one case (5%): and megacystis-microcolon-intestinal hypoperistasis (MMIHS) in one case (5%). The characteristic features of plain abdomen and barium enema study were discussed. The finding of a microcolon on contrast enema study in newborn with lower gastrointestinal obstruction signifies that it may rise from lower gastrointestinal obstruction above colon, external compression, or motility disorder of the intestine itself. The outcome of microcolon seems to depend on its underlying causes. In those caused by obstruction, only the caliber may return to normal within days after removal of the obstruction.
Topics: Barium Sulfate; Colon; Colonic Diseases; Diagnosis, Differential; Enema; Female; Humans; Infant; Infant, Newborn; Intestinal Obstruction; Male; Radiography
PubMed: 1776439
DOI: No ID Found -
Journal of Pediatric Surgery Jul 2019Megacystis-microcolon-hypoperistalsis syndrome (MMIHS) also called Berdon's Syndrome, is a smooth muscle myopathy that results in an enlarged bladder, microcolon, and...
OBJECTIVES
Megacystis-microcolon-hypoperistalsis syndrome (MMIHS) also called Berdon's Syndrome, is a smooth muscle myopathy that results in an enlarged bladder, microcolon, and small bowel hypoperistalsis. In our series of six patients with this disorder, all had disordered swallowing. Therefore, we prospectively characterized esophageal structure and function in all.
METHODS
Diagnoses had been established by contrast radiography, small bowel manometry, and urodynamic studies. To investigate the esophagus, we endoscoped and biopsied the esophagus of each patient on multiple occasions. All patients also underwent water soluble contrast esophagography and esophageal manometry.
RESULTS
Upon careful questioning, all patients had swallowing dysfunction, and the majority of their enteral intake was via gastrostomy or gastrojejunostomy. All took some oral alimentation, but eating was slow and none could aliment themselves completely by the oral route, receiving 50% or less of their calories by mouth. Four had megaesophagus whereas the esophagus of the two youngest was of normal caliber. All had eosinophilic esophagitis and/or esophageal Candidiasis from time to time, but successful treatment of these findings failed to improve their symptoms. Manometry revealed normal lower esophageal sphincter (LES) resting tone and normal LES relaxation, but for all, peristalsis was absent in the esophageal body.
CONCLUSIONS
This series expands the spectrum of findings in MMIHS, to include a primary motility disorder of the esophageal body. As patients age, the esophageal caliber appears to increase. Successful treatment of neither esophageal eosinophilia nor Candidiasis is effective in ameliorating the motility disorder. If our findings are confirmed in more patients with MMIHS, this disorder should be renamed, megacystis-microcolon-intestinal-and esophageal hypoperistalsis syndrome.
TYPE OF STUDY
Prognosis study, Level IV (case series).
Topics: Abnormalities, Multiple; Case-Control Studies; Child; Child, Preschool; Colon; Esophageal Motility Disorders; Female; Gastrostomy; Humans; Infant; Intestinal Pseudo-Obstruction; Male; Prognosis; Treatment Outcome; Urinary Bladder
PubMed: 30257810
DOI: 10.1016/j.jpedsurg.2018.08.051 -
Fetal Diagnosis and Therapy 2016Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare intestinal dysmotility condition that also involves a dilated urinary bladder. It was...
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.
Topics: Abnormalities, Multiple; Child, Preschool; Colon; Diagnosis, Differential; Female; Humans; Infant; Intestinal Pseudo-Obstruction; Intestines; Male; Prenatal Diagnosis; Prognosis; Urinary Bladder
PubMed: 26645214
DOI: 10.1159/000442050 -
Actas Urologicas Espanolas May 2004Berdon syndrome is a rare congenital malformation that consists in megacystis and severe intestinal malformations that condition the prognosis in most of the cases. We... (Review)
Review
Berdon syndrome is a rare congenital malformation that consists in megacystis and severe intestinal malformations that condition the prognosis in most of the cases. We report the three cases diagnosticated between 1976-2003. Diagnosis, therapeutics aspects and evolution are discussed.
Topics: Abnormalities, Multiple; Fatal Outcome; Female; Humans; Infant, Newborn; Intestines; Peristalsis; Pregnancy; Syndrome; Ultrasonography, Prenatal; Urinary Bladder
PubMed: 15264686
DOI: 10.1016/s0210-4806(04)73099-5 -
Tropical Gastroenterology : Official... 2015
Topics: Abnormalities, Multiple; Biopsy; Colon; Diagnosis, Differential; Diagnostic Imaging; Humans; Intestinal Pseudo-Obstruction; Male; Mydriasis; Urinary Bladder
PubMed: 27522749
DOI: 10.7869/tg.292 -
Minerva Pediatrica Nov 1952
Topics: Colon; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction
PubMed: 13025158
DOI: No ID Found -
Acta Medica Iranica Aug 2015Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS) is a rare and the most severe form of functional intestinal obstruction in the newborn. The...
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 hydronephrosis. We present a case of female newborn with antenatal ultrasound revealing a large cystic mass in pelvic with urinary tract origin, abdominal distension, a peristalsis of the intestine and micro colon.
Topics: Abnormalities, Multiple; Colon; Female; Humans; Infant, Newborn; Intestinal Pseudo-Obstruction; Peristalsis; Urinary Bladder
PubMed: 26545999
DOI: No ID Found