(10.13) A rare case of Wolfram Syndrome- 18-year-old male with central diabetes insipidus, Type 1 Diabetes mellitus, unilateral optic atrophy. Genetic analysis showed two heterozygous variants in WFS1 likely benign. Given the classic features we suspect Wolfram Syndrome
Fellow In Endocrinology UTHSC Memphis Memphis, Tennessee, United States
Introduction : Wolfram syndrome is an inherited rare genetic disorder. There is no cure to this disorder however we can certainly improve their quality of life. We had a 18 year old presented to us with diabetic ketoacidosis with classic features of Wolfram.
Case(s) Description : This is 18 yr old male presented to us with DKA. He was diagnosed with Diabetes mellitus and Diabetes Insipidus at age of 2. On further investigating his history , ophthalmology evaluation revealed esotropia on the left eye with optic atrophy . He also has mild developmental delay. Genetic testing revealed WFS1 gene heterozygous likely benign .
Discussion : Given classic features of DM type 1, Diabetes insipidus and optic atrophy makes us think he likely has Wolfram Syndrome.Given the absence of definitive genetic evidence,a Wolfram-like syndrome is also possible.
