Wolfram Syndrome: Case Report and Review of the Literature

Arı, Şeyhmus; Keklíkçí, Uğur; Çaça, İhsan; Ünlü, Kaan; Kayabaşı, Hasan

doi:10.1007/s12019-007-0007-z

Cited by 13 publications

(15 citation statements)

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“…Early-onset IDDM and optic atrophy are believed to be the initial and basic features of the syndrome [9]. Patients usually demonstrate diabetes mellitus associated by optic atrophy in the first decade, sensorineural deafness and diabetes incipidus in the second decade, dilated renal outflow tracts early in the third decade, and several neurological abnormalities early in the fourth decade [10]. The prevalence, severity and age of onset of the various manifestations of this syndrome are not constant in other studies [11].…”

Section: Discussionmentioning

confidence: 99%

“…Besides optic atrophy, constriction of visual fields and decline visual acuity and color vision are the other ophthalmological findings in wolfram syndrome [9,12]; however, diabetic retinopathy is rarely observed [10]. Only five cases with Wolfram have been reported without optic atrophy [10].…”

Section: Discussionmentioning

confidence: 99%

“…Finding from different studies suggest that wolfram is contributed by alternations in genes located on chromosome 4 or alternatively, in the mitochondrial DNA [10]. Since the initial recognition of the WFS 1 gene by Inoue et al [14], different research has determined more than 50 distinct mutations of this gene.…”

Section: Discussionmentioning

confidence: 99%

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

2009

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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.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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

2009

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“…The estimated prevalence is 1 in 770,000 in the UK, 1 in 100,000 in North America, and 1 in 68,000 in the Lebanese population (high rates of consanguinity) [1, 4, 5]. …”

Section: Introductionmentioning

confidence: 99%

Ophthalmologic Manifestations of Wolfram Syndrome: Report of 14 Cases

et al. 2018

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Purpose: The aim of this study was to describe ophthalmological abnormalities in 14 cases of Wolfram syndrome belonging to 9 different families. Methods: Patients were submitted to a complete ophthalmological, neurological, otorhinolaryngological, urological, and genetic evaluation. Results: Our sample comprised 14 Caucasian patients belonging to 9 different families. Their ages ranged from 10 to 38 years. The mean duration of known disease was 11.3 ± 8.7 years. Genetic confirmation was obtained in 7 families. There was a parental consanguinity history in 2 families. Five families were homozygous for a mutation of exon 8 of the WFS1 gene (Chr. 4), and 2 patients were heterozygous. Diabetes mellitus was the first manifestation in all except 1 patient. The mean age at diagnosis was 8.7 years (range 3–22). None had diabetic retinopathy. The mean age at diagnosis of optic atrophy was 11.1 years (range 8–35). The best-corrected visual acuity ranged from counting fingers to 20/50. Conclusions: Association of optic atrophy with insulin-dependent diabetes mellitus should raise the suspicion of Wolfram syndrome.

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“…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].…”

Section: Discussionmentioning

confidence: 99%