Wolfram syndrome (type one)
Citation, DOI, disclosures and article data
At the time the article was created Marcos Gil Alberto da Veiga had no recorded disclosures.View Marcos Gil Alberto da Veiga's current disclosures
At the time the article was last revised Rohit Sharma had no financial relationships to ineligible companies to disclose.View Rohit Sharma's current disclosures
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.
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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.
History and etymology
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.
- 1. Rahsan Gocmen, Ezgi Guler. Teaching NeuroImages: MRI of brain findings of Wolfram (DIDMOAD) syndrome. (2014) Neurology. 83 (24): e213. doi:10.1212/WNL.0000000000001082 - Pubmed
- 2. El-Shanti H, Lidral AC, Jarrah N, Druhan L, Ajlouni K. Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q. (2000) American journal of human genetics. 66 (4): 1229-36. doi:10.1086/302858 - Pubmed