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Anorectal malformation, urethral duplication, occult spinal dysraphism (ARM-UD-OSD): a challenging uncommon association

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Abstract

Purpose

Urethral duplication (UD) is a rare malformation, which can be associated with other anomalies, like anorectal malformations (ARM). ARM has been described with occult spinal dysraphism (OSD). No ARM-UD-OSD combination has been reported.

Aim

To share our experience and to discuss the management of ARM-UD-OSD association.

Methods

We retrospectively reviewed records of five boys with UD. Four of these had ARM-UD-OSD association. ARM was the first diagnosis in all; OSD and UD was detected during screening for associated malformation.

Results

All patients underwent ARM correction, 3 after colostomy. All reached fecal continence, 3 are performing bowel management. Three patients underwent UD surgical correction. Because of symptoms’ worsening, 2 children had detethering surgery. At a mean follow-up of 9.5 years, all patients have normal renal function, 3 are on clean intermittent catheterization (CIC) for neurogenic bladder (1 has a cystostomy, another one an appendicostomy).

Conclusions

UD and OSD should be considered in patients with ARM. Children with these conditions associated must be centralized in a third-level Center and management carefully planned; in particular, urethral reconstruction should be weighed, considering CIC could be required. Suspicion of neurogenic bladder must be present in OSD patient.

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Funding

The authors did not receive support from any organization for the submitted work.

Author information

Authors and Affiliations

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

    Federica Lena, Chiara Pellegrino, Antonio Maria Zaccara, Maria Luisa Capitanucci & Giovanni Mosiello

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

    Federica Lena

  3. Department of Neuroscience, Neurosurgery Unit, Bambino Gesu’ Children’s Hospital, IRCCS, Piazza di Sant’Onofrio 4, 00165, Rome, Italy

    Giacomo Esposito & Carlo Efisio Marras

  4. Medical and Surgical Department of the Fetus-Newborn-Infant, Newborn Surgery Unit, Bambino Gesu’ Children’s Hospital IRCCS, Piazza di Sant’Onofrio 4, 00165, Rome, Italy

    Barbara Daniela Iacobelli & Pietro Bagolan

  5. Imaging Department, Neuroradiology Unit, Bambino Gesu’ Children’s Hospital, IRCCS, Piazza di Sant’Onofrio 4, 00165, Rome, Italy

    Daniela Longo & Giulia Lucignani

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

    Tamara Caldaro

  7. Department of Neurorehabilitation, Bambino Gesu’ Children’s Hospital, IRCCS, Piazza di Sant’Onofrio 4, 00165, Rome, Italy

    Diletta Bruno & Enrico Castelli

  8. Department of Neuroscience, Unit of Clinical Psychology, Bambino Gesu’ Children’s Hospital, IRCCS, Piazza di Sant’Onofrio 4, 00165, Rome, Italy

    Francesca Bevilacqua & Francesca Santato

  9. Department of Systems Medicine, University of Rome “Tor Vergata”, Piazza di Sant’Onofrio 4, 00165, Rome, Italy

    Pietro Bagolan

Authors
  1. Federica Lena
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  2. Chiara Pellegrino
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  4. Maria Luisa Capitanucci
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  9. Diletta Bruno
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  11. Francesca Santato
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  15. Pietro Bagolan
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  16. Giovanni Mosiello
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Contributions

Study conception and design: GM, CP, FL Data acquisition: FS, FB, FL, CP Analysis and data interpretation: AMZ, MLC, GE, DL, DB Drafting of the manuscript: BDI, TC, GL Critical revision: GM, PB, CEM, EC

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Correspondence to Chiara Pellegrino.

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Lena, F., Pellegrino, C., Zaccara, A.M. et al. Anorectal malformation, urethral duplication, occult spinal dysraphism (ARM-UD-OSD): a challenging uncommon association. Pediatr Surg Int 38, 1487–1494 (2022). https://doi.org/10.1007/s00383-022-05186-z

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