Department of Pediatrics, Graduate School of Medicine, Gifu University, Yanagido, Gifu, Gifu, Japan.
Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan.
Medicine (Baltimore). 2022 Feb 11;101(6):e28815. 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.
McCune-Albright 综合征（MAS）是一种罕见疾病，其临床特征包括纤维结构不良（FD）。FD 是一种良性肿瘤，会导致骨折发生率增加。在一些 MAS 合并 FD 的病例中，会出现面部畸形、严重疼痛和眼眶神经病变等并发症。动脉瘤样骨囊肿（ABC）是一种良性骨肿瘤，也是 FD 的罕见并发症。
一名 9 岁男孩因急性视力障碍而被收入我院。
患者被临床诊断为 ABC 合并 MAS，并接受了手术治疗。
手术后，他的视力恢复正常。3 年内未观察到 ABC 的复发和视力障碍。对 ABC 病变组织样本进行下一代测序的基因分析显示存在 GNAS 基因的体细胞激活突变。
据我们所知，这是首例 MAS 引起的视神经病变合并 ABC 的病例报告。MAS 合并 ABC 极为罕见，但在出现急性视力丧失和面部肿胀的患者中，应考虑将其作为可能的诊断。此外，我们的病例还存在 OAS，这是一种不常见的综合征，也是 MAS 合并 ABC 的罕见并发症，快速减压 ABC 可有效改善患者视力。
