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      A Case of Wolfram Syndrome

      case-report

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          Abstract

          Purpose

          To report a case of Wolfram syndrome characterized by early onset diabetes mellitus and progressive optic atrophy.

          Case Report

          A 20-year-old male patient with diabetes mellitus type I presented with best corrected visual acuity of 1/10 in both eyes with correction of −0.25+1.50@55 and −0.25+1.50@131 in his right and left eyes, respectively. Bilateral optic atrophy was evident on fundus examination. The patient also had diabetes insipidus, neurosensory deafness, neurogenic bladder, polyuria and extra-residual voiding indicating atony of the urinary tract, combined with delayed sexual maturity.

          Conclusion

          One should consider Wolfram syndrome in patients with juvenile onset diabetes mellitus and hearing loss. Ophthalmological examination may disclose optic atrophy; urologic examinations are vital in such patients.

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          Most cited references21

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          A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome).

          H. Inoue, Y Tanizawa, J. Wasson … (1998)
          Wolfram syndrome (WFS; OMIM 222300) is an autosomal recessive neurodegenerative disorder defined by young-onset non-immune insulin-dependent diabetes mellitus and progressive optic atrophy. Linkage to markers on chromosome 4p was confirmed in five families. On the basis of meiotic recombinants and disease-associated haplotypes, the WFS gene was localized to a BAC/P1 contig of less than 250 kb. Mutations in a novel gene (WFS1) encoding a putative transmembrane protein were found in all affected individuals in six WFS families, and these mutations were associated with the disease phenotype. WFS1 appears to function in survival of islet beta-cells and neurons.
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            Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein.

            Thomas Meitinger, Christopher Hofmann, K Hörtnagel … (1998)
            Wolfram syndrome is an autosomal recessive disorder characterized by juvenile diabetes mellitus, diabetes insipidus, optic atrophy and a number of neurological symptoms including deafness, ataxia and peripheral neuropathy. Mitochondrial DNA deletions have been described in a few patients and a locus has been mapped to 4p16 by linkage analysis. Susceptibility to psychiatric illness is reported to be high in affected individuals and increased in heterozygous carriers in Wolfram syndrome families. We screened four candidate genes in a refined critical linkage interval covered by an unfinished genomic sequence of 600 kb. One of these genes, subsequently named wolframin, codes for a predicted transmembrane protein which was expressed in various tissues, including brain and pancreas, and carried loss-of-function mutations in both alleles in Wolfram syndrome patients.
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              Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome.

              S E Bundey, Roderick MacLeod, Alan Barrett (1995)
              Wolfram syndrome is the association of diabetes mellitus and optic atrophy, and is sometimes called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). Incomplete characterisation of this autosomal recessive syndrome has relied on case-reports, and there is confusion with mitochondrial genome disorders. We therefore undertook a UK nationwide cross-sectional case-finding study to describe the natural history, complications, prevalence, and inheritance of the syndrome. We identified 45 patients with Wolfram syndrome--a prevalence of one per 770,000. Non-autoimmune, insulin-deficient diabetes mellitus presented at a median age of 6 years, followed by optic atrophy (11 years). Cranial diabetes insipidus occurred in 33 patients (73%) with sensorineural deafness (28, 62%) in the second decade; renal-tract abnormalities (26, 58%) presented in the third decade followed by neurological complications (cerebellar ataxia, myoclonus [28, 62%]) in the fourth decade. Other abnormalities included gastrointestinal dysmotility in 11 (24%), and primary gonadal atrophy in seven of ten males investigated. Median age at death (commonly central respiratory failure with brain-stem atrophy) was 30 years (range 25-49). The natural history of Wolfram syndrome suggests that most patients will eventually develop most complications of this progressive, neurodegenerative disorder. Family studies indicate autosomal recessive inheritance with a carrier frequency of one in 354, an absence of a maternal history of diabetes or deafness, and an absence of the mitochondrial tRNA Leu (3243) mutation. Juvenile-onset diabetes mellitus and optic atrophy are the best available diagnostic criteria for Wolfram syndrome, the differential diagnosis of which includes other causes of neurodegeneration.
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                Author and article information

                Journal
                Journal ID (nlm-ta): J Ophthalmic Vis Res
                Journal ID (iso-abbrev): J Ophthalmic Vis Res
                Journal ID (publisher-id): JOVR
                Title: Journal of Ophthalmic & Vision Research
                Publisher: Ophthalmic Research Center
                ISSN (Print): 2008-2010
                ISSN (Electronic): 2008-322X
                Publication date (Print): January 2010
                Volume: 5
                Issue: 1
                Pages: 53-56
                Affiliations
                Feiz Hospital, Isfahan University of Medical Sciences, Isfahan, Iran
                Author notes
                Correspondence to: Gholamali Naderian, MD. Vitreoretinal Surgeon; No. 62, Hoor Alley, Kasaei St., Shariati Ave., Isfahan, Iran; Tel: +98 913 1136346, Fax: +98 311 6611829; E-mail: sana.gv@ 123456gmail.com
                Article
                Publisher ID: jovr-5-1-173-615-1-pb
                PMC ID: 3380670
                PubMed ID: 22737327
                SO-VID: 71ac4eaf-8efc-4395-9c5b-6e2d3136b1ff
                Copyright statement: Copyright @ 2010
                License:

                This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                Date received : 25 April 2009
                Date accepted : 21 July 2009
                Categories
                Subject: Case Report

                ScienceOpen disciplines: Ophthalmology & Optometry
                Keywords: optic atrophy,deafness,diabetes mellitus,diabetes insipidus
                Data availability:
                ScienceOpen disciplines: Ophthalmology & Optometry
                Keywords: optic atrophy, deafness, diabetes mellitus, diabetes insipidus

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