open access

Vol 65, No 5 (2014)
Case report
Published online: 2014-10-09
Submitted: 2014-10-10
Accepted: 2014-10-10
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False diagnosis of type 1 diabetes mellitus and its complications in Wolfram syndrome — is it the reason for the low number of reported cases of this abnormality?

Katarzyna Homa, Adam Stefański, Agnieszka Zmysłowska, Piotr Molęda, Marta Ewa Bryśkiewicz, Liliana Majkowska
DOI: 10.5603/EP.2014.0055
·
Endokrynologia Polska 2014;65(5):398-400.

open access

Vol 65, No 5 (2014)
Case report
Published online: 2014-10-09
Submitted: 2014-10-10
Accepted: 2014-10-10

Abstract

Wolfram syndrome (WS), also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness), is a rare autosomal recessive syndrome (1/770,000 in the United Kingdom), characterised by juvenile onset of diabetes mellitus, optic nerve atrophy, diabetes insipidus, sensorineural deafness, renal tract and neurological abnormalities, and primary gonadal atrophy. WS is caused mainly by biallelic mutations in the WFS1 gene, which encodes wolframin. Wide tissue distribution of wolframin and many mutations in the wolframin gene resulting in Wolfram syndrome may contribute to different phenotypes and the unusual combinations of clinical features. We describe a female patient with Wolfram syndrome diagnosed at the age of 25, with a previous false diagnosis of type 1 diabetes mellitus and misdiagnosed diabetic complications. The patient was found to be a compound heterozygote for two novel mutations in exon 8 of WFS1 gene: a 2-bp deletion AT at nt 1539 leading to a frameshift (Y513fs) and a single-base substitution 1174C > T resulting in a stop codon (Q392X). A detailed analysis of the patient’s medical history and a review of the literature suggest that many cases of Wolfram syndrome may remain undiagnosed due to misdiagnosis as type 1 diabetes mellitus and incorrect interpretation of clinical symptoms of neurodegenerative abnormalities, especially in their early stages. (Endokrynol Pol 2014; 65 (5): 398–400)

Abstract

Wolfram syndrome (WS), also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness), is a rare autosomal recessive syndrome (1/770,000 in the United Kingdom), characterised by juvenile onset of diabetes mellitus, optic nerve atrophy, diabetes insipidus, sensorineural deafness, renal tract and neurological abnormalities, and primary gonadal atrophy. WS is caused mainly by biallelic mutations in the WFS1 gene, which encodes wolframin. Wide tissue distribution of wolframin and many mutations in the wolframin gene resulting in Wolfram syndrome may contribute to different phenotypes and the unusual combinations of clinical features. We describe a female patient with Wolfram syndrome diagnosed at the age of 25, with a previous false diagnosis of type 1 diabetes mellitus and misdiagnosed diabetic complications. The patient was found to be a compound heterozygote for two novel mutations in exon 8 of WFS1 gene: a 2-bp deletion AT at nt 1539 leading to a frameshift (Y513fs) and a single-base substitution 1174C > T resulting in a stop codon (Q392X). A detailed analysis of the patient’s medical history and a review of the literature suggest that many cases of Wolfram syndrome may remain undiagnosed due to misdiagnosis as type 1 diabetes mellitus and incorrect interpretation of clinical symptoms of neurodegenerative abnormalities, especially in their early stages. (Endokrynol Pol 2014; 65 (5): 398–400)

Get Citation

Keywords

Wolfram syndrome; diabetes mellitus; optic atrophy; WFS1

About this article
Title

False diagnosis of type 1 diabetes mellitus and its complications in Wolfram syndrome — is it the reason for the low number of reported cases of this abnormality?

Journal

Endokrynologia Polska

Issue

Vol 65, No 5 (2014)

Pages

398-400

Published online

2014-10-09

DOI

10.5603/EP.2014.0055

Bibliographic record

Endokrynologia Polska 2014;65(5):398-400.

Keywords

Wolfram syndrome
diabetes mellitus
optic atrophy
WFS1

Authors

Katarzyna Homa
Adam Stefański
Agnieszka Zmysłowska
Piotr Molęda
Marta Ewa Bryśkiewicz
Liliana Majkowska

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