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Megacystis–microcolon–intestinal hypoperistalsis syndrome: don’t forget the bladder

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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.

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Data availability

Patients’ data are reported in this paper. Other data are available in their clinical charts if necessary.

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Acknowledgements

This work is generated within the European Reference Network for Rare Urogenital Diseases and Complex Conditions (ERN EUROGEN).

Funding

This work was supported also by the Italian Ministry of Health with Current Research funds. This manuscript has been viewed and approved by all authors.

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Authors and Affiliations

  1. Division of Neuro-Urology, Bambino Gesu’ Children’s Hospital, IRCCS, Piazza di Sant’Onofrio, 4, 00165, Rome, Italy

    Chiara Pellegrino, Giulia Barone, Maria Luisa Capitanucci, Antonio Maria Zaccara, Valentina Forlini & Giovanni Mosiello

  2. Pediatric Surgery, University of Genoa, DINOGMI, Largo Paolo Daneo, 3, 16132, Genoa, Italy

    Giulia Barone & Valentina Forlini

  3. Neonatal Surgery Unit, Bambino Gesu’ Children’s Hospital, IRCCS, Piazza di Sant’Onofrio, 4, 00165, Rome, Italy

    Fabio Fusaro, Barbara Daniela Iacobelli, Federico Scorletti & Andrea Conforti

  4. Gastroenterology and Nutrition Unit, Bambino Gesu’ Children’s Hospital, IRCCS, Piazza di Sant’Onofrio, 4, 00165, Rome, Italy

    Paola De Angelis & Renato Tambucci

  5. Nutrition Rehabilitation Unit, Bambino Gesu’ Children’s Hospital, IRCCS, Piazza di Sant’Onofrio, 4, 00165, Rome, Italy

    Antonella Diamanti

  6. Digestive Endoscopy and Surgery Unit, Bambino Gesu’ Children’s Hospital, IRCCS, Piazza di Sant’Onofrio, 4, 00165, Rome, Italy

    Tamara Caldaro

  7. Clinical Sciences and Transitional Medicine, Tissue Engineering and Remodelling Biotechnologies for Body Function, University of Rome Tor Vergata, Via Cracovia, 50, 00133, Rome, Italy

    Maria Laura Sollini

Authors
  1. Chiara Pellegrino
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  2. Giulia Barone
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  3. Maria Luisa Capitanucci
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  4. Antonio Maria Zaccara
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  5. Fabio Fusaro
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  8. Andrea Conforti
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  9. Paola De Angelis
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  10. Antonella Diamanti
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  11. Tamara Caldaro
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  12. Renato Tambucci
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  13. Maria Laura Sollini
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  14. Valentina Forlini
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  15. Giovanni Mosiello
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Contributions

Conceptualization: CP, GM; methodology: MC, FS; formal analysis and investigation: AZ, RT, GB, MS; writing—original draft preparation: FF, PDA, BI, VF; writing—review and editing: AD, AC, TC; supervision: GM, MC.

Corresponding author

Correspondence to Chiara Pellegrino.

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Pellegrino, C., Barone, G., Capitanucci, M.L. et al. Megacystis–microcolon–intestinal hypoperistalsis syndrome: don’t forget the bladder. Pediatr Surg Int 40, 124 (2024). https://doi.org/10.1007/s00383-024-05711-2

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