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Megacystis-microcolon-intestinal hypoperistalsis syndrome 4(MMIHS4)

MedGen UID:: 1783600
•Concept ID:: C5543519
•: Disease or Syndrome

Synonyms:	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4; MMIHS4

Gene (location): Gene(s) directly associated with this condition or phenotype.	MYL9 (20q11.23)

Monarch Initiative:	MONDO:0030296
OMIM®:	619365

Definition

Megacystis-microcolon-intestinal hypoperistalsis syndrome-4 (MMIHS4) is a severe early-onset disorder characterized by impaired smooth muscle contractility in the bladder and intestines (Kandler et al., 2020). For a discussion of genetic heterogeneity of MMIHS, see 249210. [from OMIM]

Clinical features

From HPO

Recurrent urinary tract infections

MedGen UID:: 120466
•Concept ID:: C0262655
•: Disease or Syndrome

Repeated infections of the urinary tract.

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Nephrolithiasis

MedGen UID:: 98227
•Concept ID:: C0392525
•: Disease or Syndrome

The presence of calculi (stones) in the kidneys.

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Megacystis

MedGen UID:: 343318
•Concept ID:: C1855311
•: Finding

Dilatation of the bladder postnatally.

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Abdominal distention

MedGen UID:: 34
•Concept ID:: C0000731
•: Finding

Distention of the abdomen.

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Hypoperistalsis

MedGen UID:: 451002
•Concept ID:: C0232475
•: Finding

Reduced or inadequate peristalsis, with resultant slow passage of contents through the digestive tract.

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Cerebral white matter atrophy

MedGen UID:: 868341
•Concept ID:: C4022735
•: Anatomical Abnormality

The presence of atrophy (wasting) of the cerebral white matter.

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Recurrent respiratory infections

MedGen UID:: 812812
•Concept ID:: C3806482
•: Finding

An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.

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Oligohydramnios

MedGen UID:: 86974
•Concept ID:: C0079924
•: Pathologic Function

Diminished amniotic fluid volume in pregnancy.

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Fetal pyelectasis

MedGen UID:: 384527
•Concept ID:: C2317073
•: Disease or Syndrome

Mild pyelectasis is defined as a hypoechoic spherical or elliptical space within the renal pelvis that measures at least 5mm and not more than 10 mm. The measurement is taken on a transverse section through the fetal renal pelvis using the maximum anterior-to-posterior measurement.

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Mydriasis

MedGen UID:: 10145
•Concept ID:: C0026961
•: Sign or Symptom

Abnormal dilatation of the iris.

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Abnormality of prenatal development or birth
- Fetal pyelectasis
- Oligohydramnios
Abnormality of the digestive system
- Abdominal distention
- Hypoperistalsis
Abnormality of the eye
- Mydriasis
Abnormality of the genitourinary system
Abnormality of the nervous system
- Cerebral white matter atrophy
Abnormality of the respiratory system
- Recurrent respiratory infections

Professional guidelines

PubMed

Z-scores of fetal bladder size for antenatal differential diagnosis between posterior urethral valves and urethral atresia.

Fontanella F, Groen H, Duin LK, Suresh S, Bilardo CM
Ultrasound Obstet Gynecol 2021 Dec;58(6):875-881. doi: 10.1002/uog.23647. PMID: 33864313 Free PMC Article

Fetal megacystis: differential diagnosis.

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

See all (2)

Recent clinical studies

Etiology

Single-center outcome analysis of 46 fetuses with megacystis after intrauterine vesico-amniotic shunting with the Somatex®intrauterine shunt.

Gottschalk I, Berg C, Menzel T, Abel JS, Kribs A, Dübbers M, Kohaut J, Weber LT, Taylan C, Habbig S, Liebau MC, Boemers TM, Weber EC
Arch Gynecol Obstet 2024 Jan;309(1):145-158. Epub 2023 Jan 5 doi: 10.1007/s00404-022-06905-6. PMID: 36604332 Free PMC Article

Z-scores of fetal bladder size for antenatal differential diagnosis between posterior urethral valves and urethral atresia.

Fontanella F, Groen H, Duin LK, Suresh S, Bilardo CM
Ultrasound Obstet Gynecol 2021 Dec;58(6):875-881. doi: 10.1002/uog.23647. PMID: 33864313 Free PMC Article

Megacystis Microcolon Intestinal Hypoperistalsis Syndrome: A Case Series With Long-term Follow-up and Prolonged Survival.

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: 33264186 Free PMC Article

Prenatal renal parenchymal area as a predictor of early end-stage renal disease in children with vesicoamniotic shunting for lower urinary tract obstruction.

Moscardi PRM, Katsoufis CP, Jahromi M, Blachman-Braun R, DeFreitas MJ, Kozakowski K, Castellan M, Labbie A, Gosalbez R, Alam A
J Pediatr Urol 2018 Aug;14(4):320.e1-320.e6. Epub 2018 Jul 24 doi: 10.1016/j.jpurol.2018.07.004. PMID: 30093259

Fetal megacystis: A systematic review.

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

See all (7)

Diagnosis

The Diverse Phenotype of Intestinal Dysmotility Secondary to ACTG2-related Disorders.

Sandy NS, Huysentruyt K, Mulder DJ, Warner N, Chong K, Morel C, AlQahtani S, Wales PW, Martin MG, Muise AM, Avitzur Y
J Pediatr Gastroenterol Nutr 2022 May 1;74(5):575-581. doi: 10.1097/MPG.0000000000003400. PMID: 35149643 Free PMC Article

Megacystis Microcolon Intestinal Hypoperistalsis Syndrome: A Case Series With Long-term Follow-up and Prolonged Survival.

Imaging findings in megacystis-microcolon-intestinal hypoperistalsis syndrome.

Ballisty MM, Braithwaite KA, Shehata BM, Dickson PN
Pediatr Radiol 2013 Apr;43(4):454-9. Epub 2012 Aug 29 doi: 10.1007/s00247-012-2479-y. PMID: 22926452

Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS): report of a case with prolonged survival and literature review.

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

Variants of Hirschsprung disease.

Puri P, Gosemann JH
Semin Pediatr Surg 2012 Nov;21(4):310-8. doi: 10.1053/j.sempedsurg.2012.07.005. PMID: 22985836

See all (25)

Therapy

Isolated liver and multivisceral transplantation for total parenteral nutrition-related end-stage liver disease.

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

The fungal DNA examination is useful as a sensitive parameter for the initiation and the quit of antifungal therapy in immunocompromised pediatric patients after surgery.

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

Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), an autosomal recessive disorder: clinical reports and review of the literature.

Annerén G, Meurling S, Olsen L
Am J Med Genet 1991 Nov 1;41(2):251-4. doi: 10.1002/ajmg.1320410224. PMID: 1785644

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Prognosis

The Diverse Phenotype of Intestinal Dysmotility Secondary to ACTG2-related Disorders.

Five New Cases of Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome (MMIHS), with One Case Showing a Novel Mutation.

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

Megacystis Microcolon Intestinal Hypoperistalsis Syndrome: A Case Series With Long-term Follow-up and Prolonged Survival.

Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS): report of a case with prolonged survival and literature review.

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

Megacystis microcolon intestinal hypoperistalsis syndrome: systematic review of outcome.

Gosemann JH, Puri P
Pediatr Surg Int 2011 Oct;27(10):1041-6. doi: 10.1007/s00383-011-2954-9. PMID: 21792650

See all (14)

Clinical prediction guides

The Diverse Phenotype of Intestinal Dysmotility Secondary to ACTG2-related Disorders.

Z-scores of fetal bladder size for antenatal differential diagnosis between posterior urethral valves and urethral atresia.

Fontanella F, Groen H, Duin LK, Suresh S, Bilardo CM
Ultrasound Obstet Gynecol 2021 Dec;58(6):875-881. doi: 10.1002/uog.23647. PMID: 33864313 Free PMC Article

Megacystis Microcolon Intestinal Hypoperistalsis Syndrome: A Case Series With Long-term Follow-up and Prolonged Survival.

Compound heterozygous loss of function variants in MYL9 in a child with megacystis-microcolon-intestinal hypoperistalsis syndrome.

Kandler JL, Sklirou E, Woerner A, Walsh L, Cox E, Xue Y
Mol Genet Genomic Med 2020 Nov;8(11):e1516. Epub 2020 Oct 8 doi: 10.1002/mgg3.1516. PMID: 33031641 Free PMC Article

Fetal megacystis: differential diagnosis.

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

See all (9)