Megacystis-microcolon-intestinal hypoperistalsis syndrome: don't forget the bladder

doi:10.1007/s00383-024-05711-2

. 2024 May 7;40(1):124.

doi: 10.1007/s00383-024-05711-2.

Megacystis-microcolon-intestinal hypoperistalsis syndrome: don't forget the bladder

Chiara Pellegrino¹, Giulia Barone^{2

3}, Maria Luisa Capitanucci², Antonio Maria Zaccara², Fabio Fusaro⁴, Barbara Daniela Iacobelli⁴, Federico Scorletti⁴, Andrea Conforti⁴, Paola De Angelis⁵, Antonella Diamanti⁶, Tamara Caldaro⁷, Renato Tambucci⁵, Maria Laura Sollini⁸, Valentina Forlini^{2

3}, Giovanni Mosiello²

Affiliations

¹ Division of Neuro-Urology, Bambino Gesu' Children's Hospital, IRCCS, Piazza di Sant'Onofrio, 4, 00165, Rome, Italy. chiara.pellegrino@opbg.net.
² Division of Neuro-Urology, Bambino Gesu' Children's Hospital, IRCCS, Piazza di Sant'Onofrio, 4, 00165, Rome, Italy.
³ Pediatric Surgery, University of Genoa, DINOGMI, Largo Paolo Daneo, 3, 16132, Genoa, Italy.
⁴ Neonatal Surgery Unit, Bambino Gesu' Children's Hospital, IRCCS, Piazza di Sant'Onofrio, 4, 00165, Rome, Italy.
⁵ Gastroenterology and Nutrition Unit, Bambino Gesu' Children's Hospital, IRCCS, Piazza di Sant'Onofrio, 4, 00165, Rome, Italy.
⁶ Nutrition Rehabilitation Unit, Bambino Gesu' Children's Hospital, IRCCS, Piazza di Sant'Onofrio, 4, 00165, Rome, Italy.
⁷ Digestive Endoscopy and Surgery Unit, Bambino Gesu' Children's Hospital, IRCCS, Piazza di Sant'Onofrio, 4, 00165, Rome, Italy.
⁸ Clinical Sciences and Transitional Medicine, Tissue Engineering and Remodelling Biotechnologies for Body Function, University of Rome Tor Vergata, Via Cracovia, 50, 00133, Rome, Italy.

PMID: 38713441
DOI: 10.1007/s00383-024-05711-2

Megacystis-microcolon-intestinal hypoperistalsis syndrome: don't forget the bladder

Chiara Pellegrino et al. Pediatr Surg Int. 2024.

. 2024 May 7;40(1):124.

doi: 10.1007/s00383-024-05711-2.

Authors

Affiliations

¹ Division of Neuro-Urology, Bambino Gesu' Children's Hospital, IRCCS, Piazza di Sant'Onofrio, 4, 00165, Rome, Italy. chiara.pellegrino@opbg.net.
² Division of Neuro-Urology, Bambino Gesu' Children's Hospital, IRCCS, Piazza di Sant'Onofrio, 4, 00165, Rome, Italy.
³ Pediatric Surgery, University of Genoa, DINOGMI, Largo Paolo Daneo, 3, 16132, Genoa, Italy.
⁴ Neonatal Surgery Unit, Bambino Gesu' Children's Hospital, IRCCS, Piazza di Sant'Onofrio, 4, 00165, Rome, Italy.
⁵ Gastroenterology and Nutrition Unit, Bambino Gesu' Children's Hospital, IRCCS, Piazza di Sant'Onofrio, 4, 00165, Rome, Italy.
⁶ Nutrition Rehabilitation Unit, Bambino Gesu' Children's Hospital, IRCCS, Piazza di Sant'Onofrio, 4, 00165, Rome, Italy.
⁷ Digestive Endoscopy and Surgery Unit, Bambino Gesu' Children's Hospital, IRCCS, Piazza di Sant'Onofrio, 4, 00165, Rome, Italy.
⁸ Clinical Sciences and Transitional Medicine, Tissue Engineering and Remodelling Biotechnologies for Body Function, University of Rome Tor Vergata, Via Cracovia, 50, 00133, Rome, Italy.

PMID: 38713441
DOI: 10.1007/s00383-024-05711-2

Abstract

Purpose: Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a well described clinical condition, but reports are focused on microcolon and intestinal hypoperistalsis, while data on bladder management are scant. Aim of the study is to present urological concerns in MMIHS.

Methods: Retrospective evaluation of clinical data on urological management of MMIHS patients treated in the last 10 years.

Results: Six patients were enrolled (3 male, 3 female). Three girls had prenatal diagnosis of megacystis (1 vesicoamniotic shunt was placed). All patients had genetic diagnosis: 5 had ACTG2 gene mutations and 1 MYH11 mutation. All patients were addressed to our attention for urinary symptoms, such as urinary retention, urinary tract infections, acute renal injury. Two patients presented frequent stoma prolapses. All children underwent a complete urological evaluation, and then started a bladder management protocol (clean intermittent catheterization, via urethra or cystostomy-tube placement), with improvement of urinary infections, upper urinary tract dilation and stoma prolapses, if present. All patients had good renal function at last follow-up.

Conclusion: We believe that MMIHS patients must be addressed soon and before onset of symptoms for a multidisciplinary evaluation, including an early assessment by a pediatric urologist expert in functional disorder, to preserve renal function at its best.

Keywords: Bladder dysfunction; Bowel dysfunction; MMIHS; Megacystis; Urinary retention.

PubMed Disclaimer

References

1. Ambartsumyan L (2019) Megacystis-microcolon-intestinal hypoperistalsis syndrome overview. In: Adam MP, Mirzaa GM, Pagon RA et al (eds) GeneReviews® [Internet]. University of Washington, Seattle, pp 1993–2023
1. Tuzovic L, Anyane-Yeboa K, Mills A, Glassberg K, Miller R (2014) Megacystis-microcolon-intestinal hypoperistalsis syndrome: case report and review of prenatal ultrasonographic findings. Fetal Diagn Ther 36(1):74–80. https://doi.org/10.1159/000357703 . (Epub 2014 Feb 21 PMID: 24577413) - DOI - PubMed
1. Milunsky A, Baldwin C, Zhang X, Primack D, Curnow A, Milunsky J (2017) Diagnosis of chronic intestinal pseudo-obstruction and megacystis by sequencing the ACTG2 gene. J Pediatr Gastroenterol Nutr 65(4):384–387. https://doi.org/10.1097/MPG.0000000000001608 . (PMID:28422808;PMCID:PMC5610062) - DOI - PubMed - PMC
1. Wymer KM, Anderson BB, Wilkens AA, Gundeti MS (2016) Megacystis microcolon intestinal hypoperistalsis syndrome: case series and updated review of the literature with an emphasis on urologic management. J Pediatr Surg 51(9):1565–1573. https://doi.org/10.1016/j.jpedsurg.2016.06.011 . (Epub 2016 Jun 26 PMID: 27421821) - DOI - PubMed
1. Mori M, Clause AR, Truxal K, Hagelstrom RT, Manickam K, Kaler SG, Prasad V, Windster J, Alves MM, Di Lorenzo C (2022) Autosomal recessive ACTG2-related visceral myopathy in brothers. JPGN Rep 3(4):e258. https://doi.org/10.1097/PG9.0000000000000258.PMID:37168481;PMCID:PMC1015... - DOI - PubMed - PMC

MeSH terms

Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions

Supplementary concepts

Actions

LinkOut - more resources

Full Text Sources
- Springer

[1] Ambartsumyan L (2019) Megacystis-microcolon-intestinal hypoperistalsis syndrome overview. In: Adam MP, Mirzaa GM, Pagon RA et al (eds) GeneReviews® [Internet]. University of Washington, Seattle, pp 1993–2023

[2] Ambartsumyan L (2019) Megacystis-microcolon-intestinal hypoperistalsis syndrome overview. In: Adam MP, Mirzaa GM, Pagon RA et al (eds) GeneReviews® [Internet]. University of Washington, Seattle, pp 1993–2023

[3] Tuzovic L, Anyane-Yeboa K, Mills A, Glassberg K, Miller R (2014) Megacystis-microcolon-intestinal hypoperistalsis syndrome: case report and review of prenatal ultrasonographic findings. Fetal Diagn Ther 36(1):74–80. https://doi.org/10.1159/000357703 . (Epub 2014 Feb 21 PMID: 24577413) - DOI - PubMed

[4] Tuzovic L, Anyane-Yeboa K, Mills A, Glassberg K, Miller R (2014) Megacystis-microcolon-intestinal hypoperistalsis syndrome: case report and review of prenatal ultrasonographic findings. Fetal Diagn Ther 36(1):74–80. https://doi.org/10.1159/000357703 . (Epub 2014 Feb 21 PMID: 24577413) - DOI - PubMed

[5] Milunsky A, Baldwin C, Zhang X, Primack D, Curnow A, Milunsky J (2017) Diagnosis of chronic intestinal pseudo-obstruction and megacystis by sequencing the ACTG2 gene. J Pediatr Gastroenterol Nutr 65(4):384–387. https://doi.org/10.1097/MPG.0000000000001608 . (PMID:28422808;PMCID:PMC5610062) - DOI - PubMed - PMC

[6] Milunsky A, Baldwin C, Zhang X, Primack D, Curnow A, Milunsky J (2017) Diagnosis of chronic intestinal pseudo-obstruction and megacystis by sequencing the ACTG2 gene. J Pediatr Gastroenterol Nutr 65(4):384–387. https://doi.org/10.1097/MPG.0000000000001608 . (PMID:28422808;PMCID:PMC5610062) - DOI - PubMed - PMC

[7] Wymer KM, Anderson BB, Wilkens AA, Gundeti MS (2016) Megacystis microcolon intestinal hypoperistalsis syndrome: case series and updated review of the literature with an emphasis on urologic management. J Pediatr Surg 51(9):1565–1573. https://doi.org/10.1016/j.jpedsurg.2016.06.011 . (Epub 2016 Jun 26 PMID: 27421821) - DOI - PubMed

[8] Wymer KM, Anderson BB, Wilkens AA, Gundeti MS (2016) Megacystis microcolon intestinal hypoperistalsis syndrome: case series and updated review of the literature with an emphasis on urologic management. J Pediatr Surg 51(9):1565–1573. https://doi.org/10.1016/j.jpedsurg.2016.06.011 . (Epub 2016 Jun 26 PMID: 27421821) - DOI - PubMed

[9] Mori M, Clause AR, Truxal K, Hagelstrom RT, Manickam K, Kaler SG, Prasad V, Windster J, Alves MM, Di Lorenzo C (2022) Autosomal recessive ACTG2-related visceral myopathy in brothers. JPGN Rep 3(4):e258. https://doi.org/10.1097/PG9.0000000000000258.PMID:37168481;PMCID:PMC1015... - DOI - PubMed - PMC

[10] Mori M, Clause AR, Truxal K, Hagelstrom RT, Manickam K, Kaler SG, Prasad V, Windster J, Alves MM, Di Lorenzo C (2022) Autosomal recessive ACTG2-related visceral myopathy in brothers. JPGN Rep 3(4):e258. https://doi.org/10.1097/PG9.0000000000000258.PMID:37168481;PMCID:PMC1015... - DOI - PubMed - PMC

Save citation to file

Email citation

Add to Collections

Add to My Bibliography

Your saved search

Create a file for external citation management software

Your RSS Feed

Megacystis-microcolon-intestinal hypoperistalsis syndrome: don't forget the bladder

Affiliations

Megacystis-microcolon-intestinal hypoperistalsis syndrome: don't forget the bladder

Authors

Affiliations

Abstract

Similar articles

References

MeSH terms

Supplementary concepts

LinkOut - more resources

Full Text Sources

Abstract

Similar articles

References

MeSH terms

Supplementary concepts

Related information

LinkOut - more resources

Full Text Sources