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PublishAlexander Newman Modified over 8 years ago
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Teaching NeuroImages Neurology Resident and Fellow Section © 2013 American Academy of Neurology A 32-year-old man with a neuroendocrine disorder
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Vignette 32-year-old man with deafness and insulin- dependent diabetes since infancy Progressive visual loss since age 28 years Episodes of polydipsia and polyuria leading to hyponatremia Vale TC et al.
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Imaging Vale TC et al.
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A neuroendocrine rarity: Wolfram syndrome type 1 DIDMOAD syndrome – Diabetes Insipidus – Diabetes Mellitus – Optic Atrophy – Deafness Mutation in WFS1 gene, mapped to chromosome 4p16.1, encoding wolframin, a transmembrane protein localized in endoplasmic reticulum of pancreatic β-cells Vale TC et al.
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