AI Article Synopsis
- - Wolfram syndrome (WFS) is a rare genetic disorder causing neurodegenerative symptoms like diabetes, vision and hearing loss, and various other complications.
- - A 22-year-old male with a history of type 1 diabetes developed optic nerve degeneration and sensorineural hearing loss, alongside symptoms of diabetes insipidus and polydipsia.
- - After thorough evaluation and genetic testing, he was diagnosed with WFS and is currently treated with insulin and desmopressin for his conditions.
Article Abstract
Wolfram syndrome (WFS) is an uncommon autosomal recessive neurodegenerative disorder characterized by diabetes mellitus, diabetes insipidus, optic nerve degeneration, hearing impairment, and other abnormalities. Additionally, a portion of individuals experience neurological, endocrine, behavioral, and urinary tract disorders that make management more challenging. Here, we present a 22-year-old male who was diagnosed with type 1 diabetes at the age of 4 and received treatment with basal-bolus insulin therapy. He had blurring of vision and hearing loss at 13 years of age, and our evaluation revealed optic atrophy and sensorineural hearing loss. He had polydipsia and polyuria (intake/output of 5-6 L/day) despite a fairly controlled blood glucose level. Serum anti-diuretic hormone (ADH) was done, which confirmed the diagnosis of central diabetes insipidus. His sonogram and urinary flow studies revealed bilateral hydroureteronephrosis with reflux uropathy. We diagnosed him with neurogenic bladder disorder with detrusor sphincter dyssynergia. This patient had an early onset urological disorder with involvement of eyes and ears, with diabetes mellitus and diabetes insipidus, which satisfied the criteria of WFS. The genetic test confirmed the diagnosis. He is currently being managed with insulin and desmopressin.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11338651 | PMC |
| http://dx.doi.org/10.7759/cureus.65107 | DOI Listing |
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