Wolfram syndrome: A case report

Authors

  • Alireza Eskandarifar Assistant Professor, Department of Pediatrics, School of Medicine, Kurdistan University of Medical Sciences, Sanandaj, Iran
  • Banafsheh Sedaghat Resident, Department of Pediatrics Diseases, School of Medicine, Kurdistan University of Medical Sciences, Sanandaj, Iran
  • Somayeh Janany Resident, Department of Pediatrics Diseases, School of Medicine, Kurdistan University of Medical Sciences, Sanandaj, Iran
  • Mozhgan Hosseiny MSc Student, School of Management and Medical Informatics, Student Research Committee, Tabriz University of Medical Sciences, Tabriz, Iran
  • Alireza Gharib Deputy of Research, Kurdistan University of Medical Sciences, Sanandaj, Iran

DOI:

https://doi.org/10.22122/cdj.v2i2.110

Keywords:

Wolfram Syndrome, DIDMOAD, Optic Nerve Atrophy, Hearing Loss, Diabetes

Abstract

Wolfram syndrome (WFS) is a rare disease inherited as an autosomal dominant trait. Type I diabetes mellitus and optic atrophy are the main symptoms of the disease. It is also known as DIDMOAD syndrome due to the association of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. WFS may be associated with other disorders such as kidney failure, gonadal atrophy, and mental and behavioral disorders. This report is about a 14-year-old teenager who had suffered from vision loss and cataracts when he was 4 years old. At the age of 7 he has been diagnosed with type I diabetes mellitus due to polyuria and polydipsia. At the age of 12 he developed diabetes insipidus, neural hearing loss, urinary incontinence and bilateral hydronephrosis, neurogenic bladder, and increased blood pressure. Physicians should think of this disease and recommend genetic counselling before marriage.

 

References

Rabbani A, Kajbafzadeh A, Shabanian R, Setoodeh A, Mostafavi F, Rezvani M. Wolfram Syndrome: Endocrinological Features in a Case Series Study and Review of the Literature. Iran J Ped 2007; 17(2): 140-6.

Megighian D, Savastano M. Wolfram syndrome. Int J Pediatr Otorhinolaryngol 2004; 68(2): 243-7.

Simsek E, Simsek T, Tekgul S, Hosal S, Seyrantepe V, Aktan G. Wolfram (DIDMOAD) syndrome: a multidisciplinary clinical study in nine Turkish patients and review of the literature. Acta Paediatr 2003; 92(1): 55-61.

Plantinga RF. Hereditary Hearing Impairment: Clinical and Genetic Aspects of DFNA8/12, Usher Syndrome Type III and Wolfram Syndrome. Nijmegen, Netherlands: Radboud University Nijmegen; 2007.

Ricketts C, Zatyka M, Barrett T. The characterisation of the human Wolfram syndrome gene promoter demonstrating regulation by Sp1 and Sp3 transcription factors. Biochim Biophys Acta 2006; 1759(7): 367-77.

Kumar S. Wolfram syndrome: important implications for pediatricians and pediatric endocrinologists. Pediatr Diabetes 2010; 11(1): 28-37.

Barrett TG, Bundey SE, Macleod AF. Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome. Lancet 1995; 346(8988): 1458-63.

Yamamoto H, Hofmann S, Hamasaki DI, Yamamoto H, Kreczmanski P, Schmitz C, et al. Wolfram syndrome 1 (WFS1) protein expression in retinal ganglion cells and optic nerve glia of the cynomolgus monkey. Exp Eye Res 2006; 83(5): 1303-6.

Norooziasl S, Javadinia SA. A Case report of Wolfram Syndrome. J Birjand Univ Med Sci 2013; 20(1): 102-7. [In Persian].

Razavi Z, Taghdiri M. Wolfram Syndrome: A Case Report. Rehabilitation 2007; 7(4): 75-7. [In Persian].

Manaviat MR, Rashidi M, Mohammadi SM. Wolfram Syndrome presenting with optic atrophy and diabetes mellitus: two case reports. Cases J 2009; 2: 9355.

Waschbisch A, Volbers B, Struffert T, Hoyer J, Schwab S, Bardutzky J. Primary diagnosis of Wolfram syndrome in an adult patient-case report and description of a novel pathogenic mutation. J Neurol Sci 2011; 300(1-2): 191-3.

Rigoli L, Lombardo F, Di BC. Wolfram syndrome and WFS1 gene. Clin Genet 2011; 79(2): 103-17.

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Published

2014-07-10

How to Cite

1.
Eskandarifar A, Sedaghat B, Janany S, Hosseiny M, Gharib A. Wolfram syndrome: A case report. Chron Dis J. 2014;2(2):95–97.

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Case Report(s)

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