Adult diagnosis of Wolfram (DIDMOAD) syndrome revealed during evaluation of polyuria in acute kidney injury

Abstract Introduction Wolfram syndrome (WFS1 spectrum disorder; DIDMOAD) is a rare progressive neurodegenerative disorder in which diabetes mellitus and optic atrophy often precede diabetes insipidus. Adult diagnosis may be delayed, especially when multisystem features are managed in separate clinics. Case description A 26-year-old man with insulin-dependent diabetes mellitus, optic atrophy and sensorineural hearing loss, and chronic kidney disease from obstructive uropathy (baseline creatinine 2.1 mg/dL; HbA1c 8.4%) presented with acute kidney injury, dehydration, and hypernatraemia (Na 156 mmol/L) with profound hypotonic polyuria (urine osmolality 115 mOsm/kg). A desmopressin challenge produced a clear rise in urine osmolality with stabilization of serum sodium and improvement in renal function, supporting central diabetes insipidus and prompting a unifying diagnosis of Wolfram syndrome. Discussion Hypernatraemia with hypotonic polyuria during acute kidney injury should trigger structured evaluation for diabetes insipidus rather than attribution to osmotic or post-obstructive diuresis. Recognition of central diabetes insipidus in a young adult with diabetes and optic atrophy should prompt multidisciplinary, anticipatory monitoring for urinary tract dysfunction and neurodegeneration. Learning Points