Hyperglycemic Hyperosmolar State as the Initial Presentation of Wolfram Syndrome: A Common Complication Revealing a Rare Disease-A Case Report.

Wolfram syndrome is a rare autosomal recessive disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD). We present the case of a 19-year-old male with a history of juvenile-onset non-autoimmune diabetes mellitus who presented with fever, chills, seizures, altered sensorium, vomiting, and abdominal pain. The patient was treated for a hyperosmolar hyperglycemic state precipitated by gastrointestinal infection with intravenous fluids, antibiotics, and insulin therapy. Physical examination revealed short stature, delayed secondary sexual characteristics, neck rigidity, and bilateral upward plantar reflexes. Further neuroimaging revealed pontine atrophy, partial central diabetes insipidus, and bilateral optic atrophy. Fundoscopy confirmed optic disc pallor and generalized visual field loss. Pure tone audiometry indicated profound bilateral high-frequency sensorineural hearing loss, and magnetic resonance (MR) urography findings were consistent with a neurogenic bladder. His sensorium and neurological deficits improved within 3 days, and he was later discharged with close follow-up by a multidisciplinary team. This case highlights the classic presentation of Wolfram syndrome in a young male with diabetes and neurological complications, emphasizing the need for early recognition and multidisciplinary management. Wolfram syndrome poses significant diagnostic challenges due to its varied and progressive symptoms, and this report aims to contribute to the existing knowledge base and create awareness about the condition, its clinical presentation, and the need for a multidisciplinary management approach.