Bladder dysfunction in Wolfram syndrome: two case reports with urodynamic findings

Wolfram syndrome (WS) is a rare autosomal recessive neurodegenerative disorder frequently associated with lower urinary tract dysfunction, which may lead to recurrent urinary tract infections, upper urinary tract dilatation, and renal impairment. Urodynamic evaluation plays a key role in characterizing these dysfunctions and guiding management. To describe the spectrum of urodynamic findings in patients with WS and to emphasize the importance of early detection and longitudinal follow-up. We report two patients with WS referred for evaluation of urinary symptoms. Assessment included symptom questionnaires, uroflowmetry, post-void residual (PVR) urine measurement, and multichannel cystometry. Evaluated parameters included bladder sensation, detrusor activity, bladder compliance, cystometric capacity during filling, and urethral relaxation during voiding. Both patients presented with recurrent urinary tract infections, significant PVR volumes, and bilateral ureterohydronephrosis. In the first case, urodynamic testings showed detrusor overactivity during filling, associated with bladder acontractility and absent urethral relaxation during voiding. In the second case, findings included reduced voided volume and maximum flow rate, low bladder compliance, reduced cystometric capacity, and bladder acontractility during voiding. These cases illustrate the wide spectrum of bladder dysfunction in WS, ranging from detrusor overactivity to low compliance and bladder acontractility. The progressive involvement of both filling and voiding phases highlights the need for early and regular urodynamic monitoring to prevent urological and renal complications.