Wolfram Syndrome presenting with optic atrophy and diabetes mellitus: two case reports

Abstract

Wolfram syndrome is the constellation of juvenile onset diabetes mellitus and optic atrophy, known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness).Patients demonstrate diabetes mellitus followed by optic atrophy in the first decade, diabetes insipidus and sensorineural deafness in the second decade, dilated renal outflow tracts early in the third decade, and multiple neurological abnormalities early in the fourth decade.This study reports two siblings with late diagnosed wolfram syndrome with diabetes insipidus, diabetes mellitus, optic atrophy, deafness and severe urological abnormalities.In conclusion, cases having early onset insulin-dependent diabetes mellitus and optic atrophy together need to be evaluated with respect to Wolfram.

Identification of homozygous WFS1 mutations (p.Asp211Asn, p.Gln486*) causing severe Wolfram syndrome and first report of male fertility

“…The other associated features included diabetes insipidus and sensorineural deafness (in the second decade), dilated renal outflow tracts (early in the third decade) and multiple neurological abnormalities (early in the fourth decade of life). 23 In our study, two families of Persian origin presented with a severe form of WFS exhibiting almost all of the reported features.…”

“…23 The probands presented with diabetes mellitus (at the age of 6 years) followed by bilateral optic atrophy in the first decade. The other associated features included diabetes insipidus and sensorineural deafness (in the second decade), dilated renal outflow tracts (early in the third decade) and multiple neurological abnormalities (early in the fourth decade of life).…”

Presentation and clinical course of Wolfram (DIDMOAD) syndrome from North India

“…The number of patients in most reports is small [8][9][10][11]. The prevalence of the syndrome in youth-onset diabetes in India is not known and is limited to reporting of a few single cases [12,13].…”

Czy nieprawidłowe rozpoznanie zespołu Wolframa jako cukrzycy typu 1 i jej powikłań może być przyczyną rzadkiego rozpoznawania tego zespołu?

“…The typical sequence of the occurrence of the pathologies in patients with Wolfram syndrome is: diabetes mellitus in the first decade of life, optic atrophy in the first or early in the second decade, diabetes insipidus and sensorineural hearing loss in the second decade, dilated renal outflow tracts early in the third decade and neurological abnormalities early in the fourth decade of life [11,12].…”