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Megacystis - Microcolon - Intestinal Hypoperistalsis Syndrome

MMIHS


Presentation

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  • You know when you’re watching a film and the star collapses because they’ve had a huge shock and you can see how devastated they are; well, that was me, only I’m not a star and I’m not in a film. I’m just an ordinary mum.[endingawantedpregnancy.com]
Food Intolerance
  • Hypoperistalsis causes a pseudo-obstruction which leads to a shortened and malrotated microcolon and food intolerance. MMIHS usually affects women, and is almost lethal in the first year of life.[genome.jp]
Decreased Bowel Sounds
  • Characterized by abdominal distention, bile-stained vomiting, and absent or decreased bowel sounds, abdominal distention was a constant and early finding.[journals.lww.com]
Hypotension
  • Shortly after delivery, the child developed respiratory distress and hypotension and required intubation. The serum creatinine level was initially 1.0 mg/dL and a plateau of 0.6 mg/dL was reached on day 10 after birth.[kundoc.com]
Long Arm
  • We describe a case of MMIHS in association with a de novo deletion of the proximal long arm of chromosome 15 (15q11.2).[ncbi.nlm.nih.gov]
  • Putative gene loci for tuberous sclerosis have been assigned to the long arms of chromosomes 9 and 11 and it is possible that the cardiac rhabdomyomata seen in this patient are a serendipitous indicator of the location of the megacystis-microcolon-intestinal[jmg.bmj.com]
  • These observations raise the possibility that the proximal long arm of chromosome 15 (15q11) may be of clinical significance in MMIHS. MMIHS has been reported as an autosomal recessive disorder with female preponderance 7 .[journals.lww.com]
Psychomotor Retardation
  • We report the case of a girl aged 3 years 7 months who had MMIHS with severe psychomotor retardation; autopsy was performed after her death.[ncbi.nlm.nih.gov]
  • retardation ( 12238913 ) megaesophagus ( 10370043 ) Mouse models mice lacking the alpha-3 neuronal nicotinic acetylcholine receptor ( 10318955 ) mice lacking the beta-2 and the beta-4 subunits of neuronal nicotinic acetylcholine receptors ( 10531434[humpath.com]
Confusion
  • This diagnosis should not be confused with prune belly syndrome or the much milder chronic idiopathic intestinal pseudo-obstruction, in which megacystis is also present.[endingawantedpregnancy.com]
  • The syndrome must not be confused with the idiopathic intestinal pseudo-obstruction syn- drome, a milder autosomal dominant condition [McKusick No. 15531, McKusick, 19901 which is com- patible with life and which produces few symptoms be- fore 20 years[docslide.net]
Dysarthria
  • Two months later, she developed dysarthria and muscular weakness, and could not maintain her posture. The level of serum selenium was extremely low.[ncbi.nlm.nih.gov]
Decorticate Posture
  • The second patient developed flexion and spasticity of the extremities followed by decorticate posture at the age of 3 years. Both patients died of sepsis. The brain weights of the two cases were 880 g and 715 g.[ncbi.nlm.nih.gov]

Workup

  • Additional measures to support the decision-making process are employed as appropriate (see Workup ).[emedicine.medscape.com]
Gliosis
  • In both cases, severe neuronal loss and gliosis were present in the medial convolutions of the occipital lobe, including the visual cortex. The postcentral gyrus and temporal transverse gyrus were also involved.[ncbi.nlm.nih.gov]
Abnormal Amniotic Fluid
  • RESULTS: Abnormal amniotic fluid digestive enzyme profile (vomiting of bile or digestive secretion leakage) was observed in 8/10 MMIHS cases.[ncbi.nlm.nih.gov]

Treatment

  • Prognosis of MMIHS is generally poor and treatment is mostly supportive. To date, bowel transplantation remains the only viable treatment to restore bowel motility.[ncbi.nlm.nih.gov]

Prognosis

  • 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.[ncbi.nlm.nih.gov]

Etiology

  • We discuss the ultrasound findings of in utero bladder distension with hydronephrosis and one of its rare etiologies.[ncbi.nlm.nih.gov]
  • The exact etiology of MMIHS is not known. There are several theories to explain its pathogenesis but the most commonly accepted etiology is that MMIHS is a form of visceral myopathy.[abdominalkey.com]
  • The exact etiology of MMIHS is not known, but the most commonly accepted etiology is that MMIHS is a form of visceral myopathy 4 . The main manifestation is intestinal obstruction in a newborn, with other associated abnormalities.[journals.lww.com]

Epidemiology

  • Resulting publications were reviewed for epidemiology and outcome. Reference lists were screened for additional cases. RESULTS: A total number of 227 MMIHS cases were reported from 1976 to 2011.[ncbi.nlm.nih.gov]
  • Prune-belly syndrome: case series and review of the literature regarding early prenatal diagnosis, epidemiology, genetic factors, treatment, and prognosis. Fetal Pediatr Pathol 2013;31(1):13-24. Raofi V, Beatty E, Testa G, et al.[acta.tums.ac.ir]
  • An epidemiological study of enuresis in Korean children. BJU Int 2000;85:869-73. PMID: 10792168 2. Kajiwara M, Inoue K, Kato M, Usui A, Kurihara M, Usui T. Nocturnal enuresis and overactive bladder in children: an epidemiological study.[einj.org]
  • Epidemiological study of intestinal atresias: central-eastern France Registry 1976-1992 [in French]. J Gynecol Obstet Biol Reprod (Paris) . 1996. 25(5):485-94. [Medline] . Martinez-Frias ML, Castilla EE, Bermejo E, et al.[emedicine.medscape.com]
  • American journal of epidemiology, 2008. 168(11): p. 1259-1267. 16. Bienstock, J.L., et al., Successful in utero intervention for bilateral renal agenesis. Obstetrics & Gynecology, 2014. 124(2, PART 2): p. 413-415. 17.[pediatriconcall.com]
Sex distribution
Age distribution

Pathophysiology

  • The pathophysiology is unknown. Though MMIHS and Prune Belly Syndrome (PBS) are clinically similar, hypoperistalsis and microcolon are pathognomic features for MMIHS, whereas bladder outlet obstruction is common in PBS.[aap.confex.com]
  • Pathophysiology, diagnosis, management, 4th edn. BC Decker, Hamilton Google Scholar Young D, McKeever PA, Brown LA, Lang GD (1989) Prenatal diagnosis of the megacystis-microcolon-intestinal hypoperistalsis syndrome.[link.springer.com]
  • Pathophysiology This leads to an increasingly distended bladder that eventually may fill the whole abdomen and results in retrograde pressure causing dilated ureters bilateral hydronephrosis and renal dysplasia.[giog.it]
  • Pathophysiology• Obstruction occurs at the level of the terminal ileum (unlike the colonic obstruction caused by meconium plug syndrome) and may be diagnosed by prenatal ultrasound.• Distal to the obstruction, the colon is narrow and empty or contains[slideshare.net]
  • Margherita Lerone , Roberto Ravazzolo & Isabella Ceccherini Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, PA, USA Yiran Guo & Hakon Hakonarson BGI-Shenzhen, Shenzhen, China Jiankang Li & Jianguo Zhang Laboratory of Pathophysiology[nature.com]

Prevention

  • Prevention - Megacystis microcolon intestinal hypoperistalsis syndrome Not supplied. Diagnosis - Megacystis microcolon intestinal hypoperistalsis syndrome Prognosis - Megacystis microcolon intestinal hypoperistalsis syndrome Not supplied.[checkorphan.org]
  • The disorder prevents the stomach, intestines, kidneys, and bladder from functioning correctly. It is not known exactly how or why MMIH syndrome occurs. Some researchers believe it is inherited since there have been cases of siblings being affected.[verywell.com]
  • Some urinary malformations can be visualized by ultrasound examination, and should be diagnosed at an early gestation age so as to prevent renal failure in children and young adults ( 2 ).[giog.it]
  • Prevention of secondary complications: Clean and safe practices in the use of indwelling intravenous catheters for administration of TPN and bladder catheterization can help prevent infections.[ncbi.nlm.nih.gov]

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