On January 12, Fumihiko Urano MD, PhD and co-authors had their case report titled “Two Cases of Wolfram Syndrome Who Were Initially Diagnosed With Type 1 Diabetes” published in “AACE Clinical Case Reports.”
The report describes two genetically confirmed cases of Wolfram syndrome, “a rare endoplasmic reticulum disorder characterized by insulin-dependent diabetes mellitus, optic nerve atrophy, and progressive neurodegeneration.”
The two patients were a 16-year-old Caucasian male and a 25-year-old Caucasian female, with body mass indexes under 25. Both patients were originally diagnosed with type 1 diabetes but tested negative for islet autoantibodies.
Genetic testing confirmed the diagnosis of Wolfram syndrome in the patients by revealing known Wolfram syndrome 1 (WFS1) pathogenic variants. The 16-year-old male patient’s results consisted of one WFS1 pathogenic variant, and the 25-year-old patient’s results showed two.
The report concludes that the patients could’ve been diagnosed with Wolfram syndrome before they developed optic nerve atrophy. Suggesting that genetic testing, for both monogenic diabetes and the WFS1 gene, should be considered for patients with early-onset diabetes who test negative for islet autoantibodies. “Genetic testing is a valuable tool for the early detection of Wolfram syndrome, which leads to proper management and improved quality of life in patients with this rare medical condition.”