Wolfram Syndrome, also known as DIDMOAD Syndrome, presents a rare constellation of neurological and genetic abnormalities, encompassing diabetes mellitus, optic nerve atrophy, diabetes insipidus, sensorineural deafness, endocrine dysfunctions, as well as various neurodegenerative abnormalities such as seizures, cognitive impairment, ataxia, and urological symptoms. The Urinary Tract Dysfunctions associated with Wolfram Syndrome significantly impact the quality of life and can precipitate severe urological complications including reccurent infections and renal failure, which can be life-threatening. This systematic review aims to synthesize existing literature on the urodynamic profile of patients diagnosed with Wolfram Syndrome and to identify common urological complications and patterns of bladder dysfunction in this population.

To conduct this review, a systematic search adhering to the Prefered Reporting Items for Systematic reviews  and Meta-Analyses (PRISMA) guidelines was performed across PubMed, ScienceDirect, and Google Scholar databases. Keywords encompassing Wolfram Syndrome, urodynamic, cystometry, pressure-flow studie, urological manifestations or symptoms, bladder dysfunction or urinary tract dysfunction were employed to ensure a comprehensive and a global retrieval of relevant articles. Eligible articles, written in French or English, reporting urodynamic findings and/or urological complications were included, without restriction on article type. Data extraction and analysis of the included articles were carried out independently by two reviewers, with discrepancies resolved through consensus with a third reviewer.

Among the 180 initially identified articles, 11 met the inclusion criteria after eliminating duplicates Common urodynamic abnormalities observed across studies included detrusor overactivity, reduced compliance, a limited cystometric capacity and detrusor acontractility. Additionally, some studies have reported detrusor sphincter dyssynergia. Predominant Complications included chronic urinary retention, urinary tract dilatation, megacystis, recurrent urinary tract infections, and in some cases renal failure.

The polymorphic and wide range urodynamic profile observed in Wolfram syndrome suggests a complex interplay between central and peripheral nervous system damage. Indeed, detrusor overactivity, compliance issues and detrusor sphincter dyssynergia imply central neurogenic involvement while, detrusor acontractility indicates peripheral neurologic disorder and myogenic changes within the bladder muscle. Additionally, the presence of diabetes and associated polyuria likely contributes to hydronephrosis and hence in recurrent urinary tract infections.

This systematic review underscores the diverse bladder dysfunctions and urological complications present in Wolfram Syndrome patients. It emphasizes the necessity for tailored urological interventions and close follow-up to optimize patient outcomes, considering the visual impairments and neurologic challenges inherent in this syndrome. Further research is warranted to deepen our understanding of the urological aspects of Wolfram Syndrome and its physiopathology in order to develop targeted management strategies.