Wolfram (DIDMOAD) Syndrome - Report of Two Siblings

Introduction:

Wolfram syndrome (WS), also known as DIDMOAD is a rare autosomal recessive syndrome characterised by juvenile onset of diabetes mellitus, optic nerve atrophy, diabetes insipidus, sensorineural deafness, renal tract and neurological abnormalities. 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.

Mostly the fist presentation migth be type 1 diabetes. A detailed analysis of the patient’s medical history and a review of the literature suggest that many cases of WS may remain undiagnosed due to misdiagnosis as type 1 DM. Herein, we reported two siblings with WS who diagnosed as type 1 diabetes firstly.

Case:

The first case is 16 year-old boy who diagnosed type 1 DM when 3.5 years old, During follow-up, growth hormone deficiency and cataract developed when he was 13 years old. After that, in two years, optic atrophy and sensorineural (SN) hearing loss and diabetes insipidus were diagnosed.

The patient’s 7-year-old sister; diagnosed type 1 diabetes mellitus in the age of 4.5 years and optic atrophy was recognized 6 months later. Both patients underwent genetic analysis and IVS4 + 1G> A homozygous mutation was detected.

In conclusion, in type 1 diabetic children, accompanying symptoms such as cataract, short stature, hearing problems and polyuria in normoglycemic state must alert the clinician for WS.