Megacystis-microcolon-intestinal hypoperistalsis syndrome

Classification according to ICD-10
Q43.8	Other specified congenital malformations of the bowel
ICD-10 online (WHO version 2019)

The megacystis-microcolon-intestinal Hypoperistaltik syndrome (MMIHS) is a very rare congenital disease with the eponymous main features to large bladder (megacystis) microcolon , diminished to absent peristalsis (Hypoperistaltik) of the intestine .S. 461

The syndrome is included in Familial Visceral Myopathy by the OMIM database .

Synonym : Berdon syndrome

The name refers to the first author of the first description from 1976 by the American pediatric radiologist WE Berdon and colleagues.

distribution

The frequency is unknown, so far 230 people have been reported, 71% of whom were female. Inheritance occurs as an autosomal dominant or autosomal - recessive .

root cause

The cause is not known. Genetic, neurogenic, myogenic and hormonal factors are discussed.

The disease can be based on the following mutations :

• in ACTG2 - gene on chromosome 2 gene locus P13.1, 44%, autosomal dominant
• in the LMOD1 , MYH11 , MYL9 or MYLK gene, each individual case, autosomal recessive

in about 55% the cause is unknown.

Clinical manifestations

Clinical criteria are:

The newborns have a bulging abdomen due to the massively enlarged urinary bladder without spontaneous emptying. In addition, bilious vomiting and a lack of meconium discharge can occur.

• Megacystis without spontaneous evacuation, indwelling catheter required
• Hydroureters , hydronephrosis , possibly picture of the prune belly syndrome , but without obstruction to outflow
• Microcolon with thinned muscle layer in normal ganglion cells , possibly shortened mesentery , dilated small intestine and / or malrotation
• Hypoperistaltik, lasting parenteral nutrition necessary making
• Developmental retardation
• Facial dysmorphism such as broad forehead, hypertelorism , short nose, small mandible , possibly cleft palate , auricular dysplasia

In addition to heart disease , clubfoot , Nagelhypoplasien come.

diagnosis

The main symptom of the enlarged urinary bladder with distension of the abdomen can be recognized prenatally by sonography and fine ultrasound from the 2nd trimester , the accompanying polyhydramnios from the 3rd trimester. The use of magnetic resonance tomography is also possible.

The diagnosis after the birth is based on the clinic as well as imaging procedures such as sonography , x-rays and colonic enema .

Differential diagnosis

The following are to be distinguished:

• Chronic intestinal pseudo-obstruction (CIPO)
• Urinary obstruction
• Congenital megacolon
• Intestinal atresia
• Anal atresia (anorectal malformation )
• Meconium ileus , meconium plug syndrome
• Hypothyroidism
• Neonatal sepsis
• medicinal z. B. magnesium sulfate , opioids
• Embryofetopathia diabetica
• Prune Belly Syndrome
• Multisystemic Smooth Muscle Dysfunction (MSMDS)

therapy

So far, there has been no thorough treatment. Total parenteral nutrition is usually required. A multi-organ transplant can be considered. Life expectancy is considered short, mostly due to sepsis or multiple organ failure .

literature

• P. Puri. (2008) Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome. In: Holschneider A., ​​Puri P. (eds) Hirschsprung's Disease and Allied Disorders. Springer, Berlin, Heidelberg, 2008, pp. 267-273, doi : 10.1007 / 978-3-540-33935-9_19 , print ISBN 978-3-540-33934-2 , online ISBN 978-3-540-33935- 9

Web links

• MMIHS
• Rare Diseases

Individual evidence

1. ↑ ^{a b c d e f g} Megacystis-microcolon-intestinal hypoperistalsis syndrome. In: Orphanet (Rare Disease Database).
2. ↑ ^{a b c} Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
3. ↑ ^{a b c d} [Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome Overview. L. Ambartsumyan In: MP Adam, HH Ardinger et al. (Ed.). GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. 2019 May 9. PMID 31070878 ]
4. ↑ ^{a b} Visceral myopathy.  In: Online Mendelian Inheritance in Man . (English)
5. ↑ familial visceral myopathy. In: Orphanet (Rare Disease Database).
6. ↑ WE Berdon, DH Baker, WA Blanc, B. Gay, TV Santulli, C. Donovan: megacystis-micro-colon intestinal hypoperistalsis syndrome: a new cause of intestinal obstruction in the newborn. Report of radiological findings in five newborn girls. In: American Journal of Roentgenology . Volume 126, Number 5, May 1976, pp. 957-964, doi: 10.2214 / ajr.126.5.957 , PMID 178239 .
7. ↑ L. Tuzovic, K. Anyane-Yeboa, A. Mills, K. Glasberg, R. Miller: megacystis-micro-colon intestinal hypoperistalsis syndrome: case report and review of prenatal ultrasonographic findings. In: Fetal Diagnosis and Therapy . Volume 36, number 1, 2014, pp. 74-80, doi: 10.1159 / 000357703 , PMID 24577413 (review).
8. ↑ Pseudo-obstruction, chronic intestinal. In: Orphanet (Rare Disease Database).
9. ↑ Multisystemic smooth muscle dysfunction. In: Orphanet (Rare Disease Database).

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