A rare pediatric case of McCune-Albright syndrome with acute visual disturbance: Case report

• Published in: Medicine (Baltimore) Vol. 101; no. 6; p. e28815
• Main Authors: Ninomiya, Hiroshi, Ozeki, Michio, Nozawa, Akifumi, Yasue, Shiho, Endo, Saori, Inuzuka, Masayuki, Obara, Natsuko, Mochizuki, Kiyofumi, Kawaguchi, Masaya, Kaneko, Yo, Ohe, Naoyuki, Aoki, Yoko, Matsuo, Masayuki, Iwama, Toru, Ohnishi, Hidenori
• Format: Journal Article
• Language: English
• Published: United States Lippincott Williams & Wilkins 11.02.2022
• Subjects: Bone Cysts, Aneurysmal - complications; Child; Chromogranins; Clinical Case Report; Fibrous Dysplasia of Bone - complications; Fibrous Dysplasia, Polyostotic - complications; Fibrous Dysplasia, Polyostotic - genetics; Genetic Testing; GTP-Binding Protein alpha Subunits, Gs; Humans; Magnetic Resonance Imaging; Male; Optic Nerve Diseases - complications; Optic Nerve Diseases - diagnosis; Vision Disorders - etiology
• ISSN: 0025-7974; 1536-5964
• DOI: 10.1097/MD.0000000000028815

McCune-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. A 9-year-old boy was admitted to our hospital because of acute visual disturbance. The patient was clinically diagnosed as ABC complicated with MAS, and he underwent surgery. After 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. To 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.