Skeletal Disorders and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, United States of America.
Laboratory of Sensorimotor Research, National Eye Institute, National Institutes of Health, Bethesda, MD, United States of America.
Bone. 2021 Feb;143:115661. doi: 10.1016/j.bone.2020.115661. Epub 2020 Sep 24.
Fibrous dysplasia (FD) is a rare disorder of expansile fibro-osseous lesions that may be associated with extraskeletal features as part of McCune-Albright syndrome (MAS). Optic disc edema is a potentially serious ophthalmologic finding that has been rarely reported in patients with FD/MAS. The purpose of this study was to investigate the prevalence and potential clinical associations of optic disc edema in a large cohort.
Clinical records were reviewed from subjects in an ongoing FD/MAS natural history study. Computed Tomography scans were evaluated for the presence of structural craniofacial abnormalities associated with optic disc edema, including Chiari I malformation and space-occupying lesions. Craniomorphometric analyses were performed to determine optic canal diameter and intracranial volume. Statistical analyses were performed to compare clinical and radiographic features between subjects with and without optic disc edema.
Optic disc edema was diagnosed in 7/187 subjects, for a prevalence of 3.7%. All subjects with optic disc edema were diagnosed before age 18 years and had mild, non-progressive disease. Radiographic structural abnormalities, including Chiari I malformation, aneurysmal bone cysts, and arachnoid cysts, were associated with higher odds of optic disc edema (odds ratio [OR] 24.3; 95% confidence interval [CI], 4.2 to 121.4; p < 0.01) (OR 18.0; 95% CI, 3.4 to 108.2; p < 0.01). Treatment with leuprolide, a gonadotropin releasing hormone analog, was also associated with optic disc edema (OR 26.0; 95% CI 3.3 to 177.5; p < 0.05). There was no significant association of optic disc edema with other MAS endocrinopathies, medications, optic canal diameter, or intracranial volume.
Optic disc edema is an uncommon but potentially serious complication of craniofacial FD, which may occur more frequently in pediatric patients and those with structural craniofacial abnormalities. The potential association of leuprolide therapy with optic disc edema in this population warrants further study.
纤维结构不良（FD）是一种罕见的膨胀性纤维骨病变，可能与 extraskeletal 特征有关，作为 McCune-Albright 综合征（MAS）的一部分。视盘水肿是一种潜在的严重眼科发现，在 FD/MAS 患者中很少有报道。本研究的目的是在一个大队列中研究视盘水肿的患病率和潜在的临床相关性。
对正在进行的 FD/MAS 自然史研究中的受试者的临床记录进行了回顾。对 CT 扫描进行评估，以确定与视盘水肿相关的结构性颅面异常，包括 Chiari I 畸形和占位性病变。进行颅面形态测量分析以确定视神经管直径和颅内体积。对有和无视盘水肿的受试者进行比较，分析临床和影像学特征。
在 187 名受试者中诊断出 7 例视盘水肿，患病率为 3.7%。所有患有视盘水肿的患者均在 18 岁之前确诊，且疾病轻微、无进展。影像学结构异常，包括 Chiari I 畸形、动脉瘤样骨囊肿和蛛网膜囊肿，与视盘水肿的发生几率较高相关（比值比 [OR] 24.3；95%置信区间 [CI]，4.2 至 121.4；p < 0.01）（OR 18.0；95% CI，3.4 至 108.2；p < 0.01）。促性腺激素释放激素类似物亮丙瑞林的治疗也与视盘水肿相关（OR 26.0；95% CI 3.3 至 177.5；p < 0.05）。视盘水肿与其他 MAS 内分泌病、药物、视神经管直径或颅内体积无显著相关性。
视盘水肿是颅面 FD 的一种罕见但潜在严重的并发症，在儿科患者和有结构性颅面异常的患者中可能更为常见。亮丙瑞林治疗与该人群视盘水肿的潜在相关性需要进一步研究。
