• Hiroshi Ninomiya, Michio Ozeki, Akifumi Nozawa, Shiho Yasue, Saori Endo, Masayuki Inuzuka, Natsuko Obara, Kiyofumi Mochizuki, Masaya Kawaguchi, Yo Kaneko, Naoyuki Ohe, Yoko Aoki, Masayuki Matsuo, Toru Iwama, and Hidenori Ohnishi.
• Department of Pediatrics, Graduate School of Medicine, Gifu University, Yanagido, Gifu, Gifu, Japan.
• Medicine (Baltimore). 2022 Feb 11; 101 (6): e28815e28815.

RationaleMcCune-Albright syndrome (MAS) is a rare disorder characterized by clinical findings, which includes fibrous dysplasia (FD). FD is a benign tumor that leads to increased rates of bone fracture. In some MAS cases with FD, facial deformities, severe pain, and orbital neuropathies are complicated. Aneurysmal bone cyst (ABC) is a benign bone tumor and rare complication of FD.Patient ConcernsA 9-year-old boy was admitted to our hospital because of acute visual disturbance.Diagnosis And InterventionsThe patient was clinically diagnosed as ABC complicated with MAS, and he underwent surgery.OutcomesAfter the surgery, his sight became normal. Recurrence of ABC and visual disturbance was not observed in 3 years. Genetic analysis of a tissue sample from the ABC lesion by next-generation sequencing revealed a somatic activating GNAS mutation.LessonsTo the best of our knowledge, this is the first case report of MAS causing optic neuropathy complicated with ABC. ABC complicated with MAS is extremely rare, but it should be considered as a possible diagnosis in patients with acute visual loss and facial swelling. In addition, our case had OAS, which is an uncommon syndrome and a rare complication in ABC with MAS, and rapid decompression of the ABC was effective in improving the patient's eyesight.Copyright © 2022 the Author(s). Published by Wolters Kluwer Health, Inc.

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