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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 
 
 

Wolfram (DIDMOAD) syndrome: report of two patients.

We report a girl with Wolfram syndrome who presented with juvenile-onset diabetes mellitus when she was 4 3/12 years old. Optic atrophy and high frequency sensorineural hearing loss were found at 7 and 9 5/12 years of age, respectively. Her younger brother also developed Wolfram syndrome when he was 3 2/12 years old. Wolfram syndrome is also called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy and deafness). This syndrome is transmitted as an autosomal recessive trait and is a progressive neurodegenerative disorder. It should be considered in a diabetic patient with unexplained optic atrophy, hearing loss, or polyuria and polydipsia in the presence of adequate blood glucose control. Visual acuity should be checked annually in patients with juvenile-onset diabetes mellitus. Optic atrophy should be considered if visual acuity is impaired.[1]

References

  1. Wolfram (DIDMOAD) syndrome: report of two patients. Lin, C.H., Lee, Y.J., Huang, C.Y., Shieh, J.W., Lin, H.C., Wang, A.M., Shih, B.F. Journal of pediatric endocrinology & metabolism : JPEM. (2004) [Pubmed]
 
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