U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Megacystis-microcolon-intestinal hypoperistalsis syndrome 1(MMIHS1)

MedGen UID:
1778116
Concept ID:
C5542316
Disease or Syndrome
Synonyms: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 1; MMIHS1
 
Gene (location): MYLK (3q21.1)
 
Monarch Initiative: MONDO:0100354
OMIM®: 249210

Definition

Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a severe disorder affecting the muscles that line the bladder and intestines. It is characterized by impairment of the muscle contractions that move food through the digestive tract (peristalsis) and empty the bladder.

Some of the major features of MMIHS can be recognized before birth using ultrasound imaging. Affected fetuses have an enlarged bladder (megacystis) because it does not empty. In addition, the large intestine (colon) is abnormally narrow (microcolon) because of a shortage of functional muscle lining it. Intestinal and bladder problems persist throughout life.

After birth, the continued impairment of peristalsis (hypoperistalsis) often causes a digestive condition called intestinal pseudo-obstruction. This condition, which mimics a physical blockage (obstruction) of the intestines but without an actual blockage, leads to a buildup of partially digested food in the intestines. This buildup can cause abdominal swelling (distention) and pain, nausea, and vomiting. The vomit usually contains a green or yellow digestive fluid called bile. Because digestion is impeded and the body does not get the nutrients from food, nutritional support is usually needed, which is given through intravenous feedings (parenteral nutrition). While some affected individuals rely solely on intravenous feedings, others require it only on occasion. Long-term use of parenteral nutrition can lead to liver problems.

The reduced ability to pass urine also contributes to painful distention of the abdomen. Many people with MMIHS require placement of a tube (urinary catheter) to remove urine from the bladder.

Another abnormality in some people with MMIHS is intestinal malrotation, in which the intestines do not fold properly. Instead, they twist abnormally, often causing a blockage. Individuals with MMIHS can also develop problems with the kidneys or the ureters, which are the ducts that carry urine from the kidneys to the bladder.

The life expectancy of people with MMIHS is shorter than normal, often due to malnutrition, overwhelming infection (sepsis), or the failure of multiple organs. [from MedlinePlus Genetics]

Clinical features

From HPO
Hydroureter
MedGen UID:
101073
Concept ID:
C0521620
Anatomical Abnormality
The distention of the ureter with urine.
Fetal megacystis
MedGen UID:
419338
Concept ID:
C2931117
Disease or Syndrome
Fetal megacystis is an abnormally enlarged bladder identified at any gestational age.
Intestinal malrotation
MedGen UID:
113153
Concept ID:
C0221210
Congenital Abnormality
An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis.
Generalized edema
MedGen UID:
376817
Concept ID:
C1850534
Pathologic Function
Generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.
Oligohydramnios
MedGen UID:
86974
Concept ID:
C0079924
Pathologic Function
Diminished amniotic fluid volume in pregnancy.

Professional guidelines

PubMed

Lombardi L, Bruder E, Pio L, Nozza P, Thai E, Lerone M, Del Rossi C, Mattioli G, Silini EM, Paraboschi I, Martucciello G
J Pediatr Gastroenterol Nutr 2018 Mar;66(3):383-386. doi: 10.1097/MPG.0000000000001727. PMID: 28837505
Osborne NG, Bonilla-Musoles F, Machado LE, Raga F, Bonilla F Jr, Ruiz F, Pérez Guardia CM, Ahluwalia B
J Ultrasound Med 2011 Jun;30(6):833-41. doi: 10.7863/jum.2011.30.6.833. PMID: 21632999

Recent clinical studies

Etiology

Pellegrino C, Barone G, Capitanucci ML, Zaccara AM, Fusaro F, Iacobelli BD, Scorletti F, Conforti A, De Angelis P, Diamanti A, Caldaro T, Tambucci R, Sollini ML, Forlini V, Mosiello G
Pediatr Surg Int 2024 May 7;40(1):124. doi: 10.1007/s00383-024-05711-2. PMID: 38713441
Prathapan KM, King DE, Raghu VK, Ackerman K, Presel T, Yaworski JA, Ganoza A, Bond G, Sevilla WMA, Rudolph JA, Alissa F
J Pediatr Gastroenterol Nutr 2021 Apr 1;72(4):e81-e85. doi: 10.1097/MPG.0000000000003008. PMID: 33264186Free PMC Article
Taghavi K, Sharpe C, Stringer MD
J Pediatr Urol 2017 Feb;13(1):7-15. Epub 2016 Oct 8 doi: 10.1016/j.jpurol.2016.09.003. PMID: 27889224
Taguchi T, Ieiri S, Miyoshi K, Kohashi K, Oda Y, Kubota A, Watanabe Y, Matsufuji H, Fukuzawa M, Tomomasa T
Asian J Surg 2017 Jan;40(1):29-34. Epub 2015 Jul 26 doi: 10.1016/j.asjsur.2015.04.004. PMID: 26216257
Barr JM
Gastroenterol Nurs 1998 Jan-Feb;21(1):11-3. doi: 10.1097/00001610-199801000-00004. PMID: 9555362

Diagnosis

Pellegrino C, Barone G, Capitanucci ML, Zaccara AM, Fusaro F, Iacobelli BD, Scorletti F, Conforti A, De Angelis P, Diamanti A, Caldaro T, Tambucci R, Sollini ML, Forlini V, Mosiello G
Pediatr Surg Int 2024 May 7;40(1):124. doi: 10.1007/s00383-024-05711-2. PMID: 38713441
Prathapan KM, King DE, Raghu VK, Ackerman K, Presel T, Yaworski JA, Ganoza A, Bond G, Sevilla WMA, Rudolph JA, Alissa F
J Pediatr Gastroenterol Nutr 2021 Apr 1;72(4):e81-e85. doi: 10.1097/MPG.0000000000003008. PMID: 33264186Free PMC Article
Tuzovic L, Anyane-Yeboa K, Mills A, Glassberg K, Miller R
Fetal Diagn Ther 2014;36(1):74-80. Epub 2014 Feb 21 doi: 10.1159/000357703. PMID: 24577413
Puri P, Shinkai M
Semin Pediatr Surg 2005 Feb;14(1):58-63. doi: 10.1053/j.sempedsurg.2004.10.026. PMID: 15770589
Barr JM
Gastroenterol Nurs 1998 Jan-Feb;21(1):11-3. doi: 10.1097/00001610-199801000-00004. PMID: 9555362

Therapy

Okada M, Sato M, Ogura M, Kamei K, Matsuoka K, Ito S
BMC Res Notes 2016 Mar 31;9:196. doi: 10.1186/s13104-016-1997-3. PMID: 27036403Free PMC Article
Hirakawa H, Ueno S, Matuda H, Hinoki T, Kato Y
Tokai J Exp Clin Med 2009 Apr 20;34(1):28-33. PMID: 21318994
Nathan JD, Rudolph JA, Kocoshis SA, Alonso MH, Ryckman FC, Tiao GM
J Pediatr Surg 2007 Jan;42(1):143-7. doi: 10.1016/j.jpedsurg.2006.09.049. PMID: 17208555
Hikida S, Tanaka Y, Tsuru T, Ohtani M, Kobayashi H, Asagiri K, Akiyoshi K, Nakamizo H, Fukahori S, Soejima H, Shirouzu Y, Tanigawa H, Shirouzu K, Mizote H
Kurume Med J 2004;51(2):125-31. doi: 10.2739/kurumemedj.51.125. PMID: 15373229
Annerén G, Meurling S, Olsen L
Am J Med Genet 1991 Nov 1;41(2):251-4. doi: 10.1002/ajmg.1320410224. PMID: 1785644

Prognosis

Kalsbeek A, Dhar-Dass R, Hanan A, Al-Haddad E, William I, Alazraki A, Poulik J, McCollum K, Almashad A, Shehata BM
Fetal Pediatr Pathol 2022 Oct;41(5):749-758. Epub 2021 Aug 12 doi: 10.1080/15513815.2021.1964656. PMID: 34383618
Prathapan KM, King DE, Raghu VK, Ackerman K, Presel T, Yaworski JA, Ganoza A, Bond G, Sevilla WMA, Rudolph JA, Alissa F
J Pediatr Gastroenterol Nutr 2021 Apr 1;72(4):e81-e85. doi: 10.1097/MPG.0000000000003008. PMID: 33264186Free PMC Article
Taghavi K, Sharpe C, Stringer MD
J Pediatr Urol 2017 Feb;13(1):7-15. Epub 2016 Oct 8 doi: 10.1016/j.jpurol.2016.09.003. PMID: 27889224
López-Muñoz E, Hernández-Zarco A, Polanco-Ortiz A, Villa-Morales J, Mateos-Sánchez L
J Pediatr Urol 2013 Feb;9(1):e12-8. Epub 2012 Jun 30 doi: 10.1016/j.jpurol.2012.05.017. PMID: 22749573
Barr JM
Gastroenterol Nurs 1998 Jan-Feb;21(1):11-3. doi: 10.1097/00001610-199801000-00004. PMID: 9555362

Clinical prediction guides

Prathapan KM, King DE, Raghu VK, Ackerman K, Presel T, Yaworski JA, Ganoza A, Bond G, Sevilla WMA, Rudolph JA, Alissa F
J Pediatr Gastroenterol Nutr 2021 Apr 1;72(4):e81-e85. doi: 10.1097/MPG.0000000000003008. PMID: 33264186Free PMC Article
Kao C, Lauzon J, Brundler MA, Tang S, Somerset D
Prenat Diagn 2021 Feb;41(3):308-315. Epub 2020 Nov 30 doi: 10.1002/pd.5868. PMID: 33219696
Lee S, Park HJ, Yoon J, Hong SH, Oh CY, Lee SK, Seo JM
JPEN J Parenter Enteral Nutr 2016 Mar;40(3):437-40. Epub 2015 Jan 5 doi: 10.1177/0148607114567200. PMID: 25560679
Gauthier J, Ouled Amar Bencheikh B, Hamdan FF, Harrison SM, Baker LA, Couture F, Thiffault I, Ouazzani R, Samuels ME, Mitchell GA, Rouleau GA, Michaud JL, Soucy JF
Eur J Hum Genet 2015 Sep;23(9):1266-8. Epub 2014 Nov 19 doi: 10.1038/ejhg.2014.256. PMID: 25407000Free PMC Article
Osborne NG, Bonilla-Musoles F, Machado LE, Raga F, Bonilla F Jr, Ruiz F, Pérez Guardia CM, Ahluwalia B
J Ultrasound Med 2011 Jun;30(6):833-41. doi: 10.7863/jum.2011.30.6.833. PMID: 21632999

Recent systematic reviews

Nakamura H, O'Donnell AM, Puri P
Pediatr Surg Int 2019 Feb;35(2):175-180. Epub 2018 Nov 1 doi: 10.1007/s00383-018-4390-6. PMID: 30386895
Taghavi K, Sharpe C, Stringer MD
J Pediatr Urol 2017 Feb;13(1):7-15. Epub 2016 Oct 8 doi: 10.1016/j.jpurol.2016.09.003. PMID: 27889224

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...