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Wolfram syndrome (DIDMOAD)
ℹ️ About
- 🧬 Wolfram syndrome (DIDMOAD) is a rare neurodegenerative disorder.
- 💡 Acronym: DIDMOAD = Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness.
🧬 Aetiology
- 🧪 Caused by defects in the WFS1 gene (chromosome 4), leading to mitochondrial dysfunction and endoplasmic reticulum stress.
- 🔗 Less commonly linked to other nuclear or mitochondrial DNA mutations.
Features
- 💧 Diabetes Insipidus – impaired vasopressin secretion → polyuria & polydipsia.
- 🍬 Diabetes Mellitus – usually non-autoimmune, insulin-dependent onset in childhood.
- 👁️ Optic atrophy – progressive loss of vision due to optic nerve degeneration.
- 🎧 Sensorineural deafness – often progressive, bilateral hearing loss.
🩺 Clinical Features
- 🧑🦱 Usually presents in childhood or adolescence.
- 💦 Polyuria and polydipsia from DI.
- 👓 Progressive visual loss (optic atrophy).
- 🔊 Hearing impairment due to SNHL.
- ⚠️ Other: ataxia, neuropathy, and psychiatric illness can develop in later stages.
🔎 Investigations
- 🩸 U&E: Hypernatraemia from uncontrolled DI.
- 🍭 Glucose: High plasma glucose confirms DM.
- 💉 Water deprivation test: Confirms central DI.
- 🧬 Genetic testing: WFS1 mutation analysis (definitive diagnosis).
💊 Management
- 💊 Symptomatic and supportive: manage DM with insulin, DI with desmopressin.
- 👁️ Ophthalmology: low-vision aids, regular monitoring of optic atrophy.
- 🎧 Audiology: hearing support (hearing aids/cochlear implant if needed).
- 🤝 Multidisciplinary care essential – endocrinology, neurology, ophthalmology, ENT, psychology.
📚 Exam tip: Remember DIDMOAD as the classic tetrad. The key distinction is that DM in Wolfram syndrome is non-autoimmune (unlike type 1 DM). Always think of Wolfram syndrome in a young patient with DM plus progressive vision and hearing loss. 🚨
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