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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): 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.
Nephrolithiasis
MedGen UID:
98227
Concept ID:
C0392525
Disease or Syndrome
The presence of calculi (stones) in the kidneys.
Megacystis
MedGen UID:
343318
Concept ID:
C1855311
Finding
Dilatation of the bladder postnatally.
Abdominal distention
MedGen UID:
34
Concept ID:
C0000731
Finding
Distention of the abdomen.
Hypoperistalsis
MedGen UID:
451002
Concept ID:
C0232475
Finding
Reduced or inadequate peristalsis, with resultant slow passage of contents through the digestive tract.
Cerebral white matter atrophy
MedGen UID:
868341
Concept ID:
C4022735
Anatomical Abnormality
The presence of atrophy (wasting) of the cerebral white matter.
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.
Oligohydramnios
MedGen UID:
86974
Concept ID:
C0079924
Pathologic Function
Diminished amniotic fluid volume in pregnancy.
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.
Mydriasis
MedGen UID:
10145
Concept ID:
C0026961
Sign or Symptom
Abnormal dilatation of the iris.

Professional guidelines

PubMed

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: 33864313Free 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 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
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: 33864313Free PMC Article
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
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
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

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
Murali K, Dhua AK
BMJ Case Rep 2024 Apr 16;17(4) doi: 10.1136/bcr-2024-259983. PMID: 38627049Free PMC Article
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
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
Puri P, Gosemann JH
Semin Pediatr Surg 2012 Nov;21(4):310-8. doi: 10.1053/j.sempedsurg.2012.07.005. PMID: 22985836

Therapy

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

Murali K, Dhua AK
BMJ Case Rep 2024 Apr 16;17(4) doi: 10.1136/bcr-2024-259983. PMID: 38627049Free PMC Article
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
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
Gosemann JH, Puri P
Pediatr Surg Int 2011 Oct;27(10):1041-6. doi: 10.1007/s00383-011-2954-9. PMID: 21792650

Clinical prediction guides

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: 35149643Free PMC Article
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
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: 33031641Free 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
Veyrac C, Couture A, Saguintaah M, Baud C
Abdom Imaging 2004 Jul-Aug;29(4):411-20. Epub 2004 May 12 doi: 10.1007/s00261-003-0147-2. PMID: 15136891

Recent systematic reviews

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: 35149643Free PMC Article
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
Gosemann JH, Puri P
Pediatr Surg Int 2011 Oct;27(10):1041-6. doi: 10.1007/s00383-011-2954-9. PMID: 21792650

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