Bilateral diabetic Charcot neuroarthropathy of the knee in a young woman with diabetes suspected of Wolfram-like syndrome

We described a very rare case of bilateral diabetic Charcot neuroarthropathy of the knee in a young woman who may have Wolfram-like syndrome. The onset of diabetes occurred at the age of 11. At the age of 26, she consulted an orthopedic surgeon for pain and swelling in the left knee with no history of trauma. Pain and swelling of the left knee got worse despite treatment with knee orthosis. On physical examination, her left knee was hot and swollen with pain, while her right knee seemed to be intact. An X-ray of the left knee revealed a horizontal discontinuity of the cortical bone at the medial plate and bone defects on the medial tibial articular surface, while an X-ray of the right knee also revealed bone fragmentation in the femoral lateral condyle. We made a diagnosis of bilateral diabetic Charcot knee joints. The patient had a novel mutation, which is a missense heterozygous mutation of 650 tyrosine to cysteine in WFS1; thus, a diagnosis of Wolfram-like syndrome (WFLS) was suspected.