Wolfram syndrome (DIDMOAD)
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A teenager with type 1 diabetes is found to have progressive vision loss (optic atrophy). Audiometry reveals sensorineural hearing loss. Urological workup shows diabetes insipidus.
AR; WFS1 (wolframin)
DIDMOAD mnemonic:
- Diabetes Insipidus
- Diabetes Mellitus (non-autoimmune)
- Optic Atrophy
- Deafness (sensorineural)
Other features: neurological degeneration, urinary tract abnormalities
- Suspect with the combination of non-autoimmune (antibody-negative) diabetes mellitus and optic atrophy, the minimal diagnostic dyad
- Document associated features: central diabetes insipidus (water deprivation testing), sensorineural hearing loss (audiometry), and urinary tract dilation
- Confirm with WFS1 sequencing (autosomal recessive); CISD2 in Wolfram syndrome type 2
- No disease-modifying therapy; care is supportive and multidisciplinary (endocrinology, ophthalmology, audiology, urology, neurology)
- Insulin for diabetes mellitus; desmopressin for central diabetes insipidus; hearing aids for sensorineural hearing loss
- Surveillance for progressive neurodegeneration, neurogenic bladder, and psychiatric manifestations
- Genetic counseling: autosomal recessive, 25% recurrence risk for siblings