Endocrine Abstracts

Background: Wolfram syndrome is an autosomal recessive neurodegenerative disorder characterised by Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness (also referred to as DIDMOAD). An estimated prevalence is 1 in 770,000 and an estimated carrier frequency is 1 in 354. Herein, we describe the course of wolfram syndrome in two female siblings.

Case presentations: The first patient is a 30-year old female, who, was diagnosed with type 1 diabetes mellitus at the age of 3. Blood glucose is well-controlled on insulin analogues. At the age of 13 she was diagnosed with optic atrophy with a total vision loss by the age of 28. One year later an audiologic examination revealed sensorineural deafness, for which she is using a hearing aid. Diabetes insipidus was diagnosed at the age of 25, and is well-controlled on desmopressin 15 mcg daily. The first patient has a 21-year old sister, who was diagnosis with type 1 diabetes mellitus at the age of 7, but has had a more rapid progression of the disease. Two years later, optic atrophy and diabetes insipidus were diagnosed. Her blood glucose is adequately controlled with insulin analogues and she is on 15 mcg desmopressin. Since the age of 17, She has had voiding difficulty due to atonic bladder and is using self intermittent catheterisation two to three times a day.

Conclusion: Cases having early onset insulin-dependent diabetes mellitus and optic atrophy need to be evaluated with respect to Wolfram. The use of careful clinical monitoring and supportive care can help relieve the suffering of patients and improve their quality of life.