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Urology case report: Multifactorial bladder dysfunction in the setting of down syndrome.

Yusuke Matsuura1, Jennifer Gates1, Peter Morgenstern1

  • 1Icahn School of Mount Sinai, 1468 Madison Ave, New York, NY, 10029, USA.

Urology Case Reports
|December 23, 2022
PubMed
Summary

A teen with Down syndrome experienced kidney issues and urinary retention. Surgical intervention for a Tarlov cyst and urethral stricture resolved kidney problems, while behavioral therapy improved bladder emptying.

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Area of Science:

  • Nephrology
  • Urology
  • Neurology

Background:

  • A 16-year-old male with Down syndrome presented with acute kidney injury (AKI) and a urinary tract infection (UTI).
  • Initial treatment involved meropenem for ESBL-positive *E. coli*.
  • Persistent elevated creatinine and significant post-void residual (PVR) indicated underlying complications.

Observation:

  • Further investigations revealed urethral stricture and a sacral Tarlov cyst.
  • Urethral dilatation provided incomplete relief for the patient's urinary issues.
  • Surgical intervention included laminectomy and Tarlov cyst fenestration.

Findings:

  • Post-surgery, the patient's creatinine normalized, urine output increased, and urinary flow improved.
  • Despite improvements, a PVR >100 mL persisted, necessitating further management.
Keywords:
AKIBladder dysfunctionDown syndromeTarlov cyst

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  • Behavioral therapy, including timed voiding, successfully reduced PVR to <5 mL.

    • Implications:

    • This case highlights the complex interplay between neurological and urological conditions in patients with Down syndrome.
    • Multidisciplinary management, including surgical and behavioral interventions, is crucial for addressing complex urological issues.
    • Effective treatment of underlying causes like Tarlov cysts can lead to significant recovery of renal function and bladder control.