Wolfram Syndrome presenting with optic atrophy and diabetes mellitus: two case reports

Masoud Reza Manaviat,Maryam Rashidi,Seyed Mohammad Mohammadi

doi:10.1186/1757-1626-2-9355

Masoud Reza Manaviat, Maryam Rashidi + Show 1 more

Open Access

https://doi.org/10.1186/1757-1626-2-9355

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Abstract

Wolfram syndrome is the constellation of juvenile onset diabetes mellitus and optic atrophy, known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness).Patients demonstrate diabetes mellitus followed by optic atrophy in the first decade, diabetes insipidus and sensorineural deafness in the second decade, dilated renal outflow tracts early in the third decade, and multiple neurological abnormalities early in the fourth decade.This study reports two siblings with late diagnosed wolfram syndrome with diabetes insipidus, diabetes mellitus, optic atrophy, deafness and severe urological abnormalities.In conclusion, cases having early onset insulin-dependent diabetes mellitus and optic atrophy together need to be evaluated with respect to Wolfram.

Highlights

For the first time in 1938, wolfram described four siblings with diabetes mellitus and optic atrophy [1]
The main features of wolfram syndrome are diabetes mellitus, diabetes insipidus, sensorineural deafness and optic atrophy [2,3]. It is a progressive neurodegenerative disorder in which patients present with nonautoimmune and nonHLA linked diabetes mellitus associated with optic atrophy in the first decade; diabetes insipidus and sensorineural deafness in the second decade; renal tract abnormalities early in the third decade; and multiple neurological abnormalities, like cerebellar ataxia, myoclonus, and psychiatric illness early in the fourth decade [4]
This study reports two siblings with wolfram and described the course of disease in them to draw the attention of health professionals to think of this syndrome in patients with IDDM and optic atrophy

Summary

Background

For the first time in 1938, wolfram described four siblings with diabetes mellitus and optic atrophy [1]. Case report 1 First case is an Iranian 20-year old female patient admitted to ophthalmology clinic complaining decreased visual acuity She has suffered progressive visual deterioration since 8 years ago. Bilateral optic atrophy was recognized, and there was no evidence of diabetic retinopathy Her visual acuity reduced to 20/ 80 on both sides. IDDM was diagnosed at the age 6, for which she is receiving insulin with rather poor control of her blood sugar She has a history of nocturia and high urine output (12 liter per day) for 6 years and after that she has had incontinency and since 2 years ago she has had voiding difficulty and has used self intermittent catheterization four times a day. Thyroid function and other blood tests were normal

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Conclusion