# A Hidden Diagnosis: Neurogenic Bladder Leading to Acute Kidney Failure in Wolfram Syndrome

## TL;DR

A 15-year-old boy with Wolfram Syndrome developed acute kidney failure due to undiagnosed neurogenic bladder, highlighting the importance of recognizing urological symptoms in this rare disorder.

## Contribution

This case report highlights neurogenic bladder as a potential early and critical manifestation of Wolfram Syndrome leading to severe renal complications.

## Key findings

- Neurogenic bladder dysfunction in Wolfram Syndrome can lead to acute kidney failure due to urinary retention.
- Early recognition of urological symptoms in WS is crucial to prevent life-threatening complications.
- Genetic testing confirmed a homozygous pathogenic mutation in the WFS1 gene in this patient.

## Abstract

Wolfram syndrome (WS) is a rare, autosomal recessive neurodegenerative disorder characterized by progressive multisystemic involvement, including diabetes mellitus, optic atrophy, diabetes insipidus, sensorineural hearing loss, and urological dysfunction. While diabetes mellitus is typically the first clinical sign, atypical presentations can delay the diagnosis.

We report the case of a 15-year-old boy, born to consanguineous parents, who presented to the Emergency Department with status epilepticus due to acute kidney failure. His renal impairment resulted from urinary retention caused by undiagnosed neurogenic bladder dysfunction. His medical history included type 1 diabetes mellitus diagnosed at age 5, bilateral optic atrophy at age 9, and persistent polyuria and polydipsia, later diagnosed as central diabetes insipidus. Additional findings included bilateral sensorineural hearing loss and brain MRI abnormalities. Genetic testing confirmed a homozygous pathogenic mutation in the WFS1 gene, establishing the diagnosis of WS.

This case underscores the importance of recognizing urological manifestations in WS, as neurogenic bladder dysfunction can lead to severe renal complications. WS should be considered in patients with a combination of diabetes mellitus, optic atrophy, and unexplained urinary symptoms, particularly in consanguineous populations. Early recognition and multidisciplinary management are crucial to preventing life-threatening complications and improving patient outcomes.