Three cases of Wolfram syndrome with different clinical aspects

Emine Çamtosun 1 , Zeynep Şıklar 1 , Pınar Kocaay 1 , Serdar Ceylaner 2 , Sarah E. Flanagan 3 , Sian Ellard 3 , and Merih Berberoğlu 1
  • 1 Ankara University School of Medicine, Department of Pediatric Endocrinology, Ankara, Turkey
  • 2 Intergen Genetic Center, Ankara, Turkey
  • 3 Institute of Biomedical and Clinical Science, University of Exeter Medical School, University of Exeter, Exeter, UK
Emine Çamtosun, Zeynep Şıklar, Pınar Kocaay, Serdar Ceylaner, Sarah E. Flanagan, Sian Ellard and Merih Berberoğlu

Abstract

Background: Wolfram syndrome is an autosomal recessive disorder caused by mutations in the WFS1 gene. Clinical heterogeneity has been reported both within and between families with WFS1 mutations.

Subjects: The first case was diagnosed with insulin-dependent diabetes mellitus with positive for pancreatic autoantibodies and had a ketoacidotic attack in the follow-up period. The second case presented initially with optic atrophy and was diagnosed with behavioral and psychiatric problems at an early age. The third case had early onset insulin-dependent diabetes with multiple anomalies and congenital hypothyroidism. Many of these features have not been reported previously in patients with Wolfram syndrome. In all three patients homozygous mutations in WFS1 were identified.

Conclusion: Wolfram syndrome is a disease where the characteristic features may present at different times. A diagnosis of Wolfram syndrome should therefore be considered even in the absence of the full spectrum of clinical features.

  • 1.

    Kumar S. Wolfram syndrome: important implications for pediatricians and pediatric endocrinologists. Pediatr Diabetes 2010;11:28–37.

    • Crossref
  • 2.

    Ganie MA, Bhat D. Current developments in Wolfram syndrome. J Pediatr Endocrinol Metab 2009;22:3–10.

    • PubMed
  • 3.

    Kang HS, ZeRuth G, Lichti-Kaiser K, Vasanth S, Yin Z, et al. Gli-similar (Glis) Krüppel-like zinc finger proteins: insights into their physiological functions and critical roles in neonatal diabetes and cystic renal disease. Histol Histopathol 2010;25:1481–96.

    • PubMed
  • 4.

    Saran S, Philip R, Patidar P, Gutch M, Agroiya P, et al. Atypical presentations of Wolframs syndrome. Indian J Endocrinol Metab 2012;16(Suppl 2):S504–5.

  • 5.

    Barrett TG, Bundey SE, Macleod AF. Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome. Lancet 1995;346:1458–63.

    • Crossref
  • 6.

    Dreyer M, Rüdiger HW, Bujara K, Herberhold C, Kühnau J, et al. The syndrome of diabetes insipidus, diabetes mellitus, optic atrophy, deafness, and other abnormalities (DIDMOAD-syndrome). Two affected sibs and a short review of the literature (98 cases). Klin Wochenschr 1982;60:471–5.

    • Crossref
  • 7.

    Kinsley BT, Swift M, Dumont RH, Swift RG. Morbidity and mortality in the Wolfram syndrome. Diabetes Care 1995;18:1566–70.

    • Crossref
    • PubMed
  • 8.

    Nakamura A, Shimizu C, Nagai S, Taniguchi S, Umetsu M, et al. A novel mutation of WFS1 gene in a Japanese man of Wolfram syndrome with positive diabetes-related antibodies. Diabetes Res Clin Pract 2006;73:215–7.

    • Crossref
  • 9.

    Swift RG, Sadler DB, Swift M. Psychiatric findings in Wolfram syndrome homozygotes. Lancet 1990;336:667–9.

    • Crossref
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