Wolfram syndrome (type one)

Last revised by Rohit Sharma on 22 Oct 2022

Wolfram syndrome type one, also known as DIDMOAD, is a disease caused by an autosomal recessive genetic trait, caused by mutations in the WFS1 gene, with incomplete penetrance.

The syndrome presents initially with type 1 diabetes mellitus, followed by optic atrophy, diabetes insipidus, and sensorineural deafness respectively.

The imaging findings include atrophy of optic pathway (nerves, chiasma, and tracts), absence of the physiological T1 hyperintense signal of the neurohypophysis, atrophy of hypothalamus, brain stem, cerebellum, and cerebral cortex.

DIDMOAD is an acronym made from the disease components i.e. diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. This cluster of findings was first described in medical literature in 1938 by clinicians, one of whom was named Wolfram, in sets of siblings.

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