Bismil State Hospital, Clinic of Ophthalmology, Diyarbakır, Türkiye.
Manisa Celal Bayar University Faculty of Medicine, Department of Ophthalmology, Manisa, Türkiye.
Turk J Ophthalmol. 2024 Oct 25;54(5):304-308. doi: 10.4274/tjo.galenos.2024.10662.
In this study, we aimed to present a rare case of pulsatile proptosis due to sphenoid wing dysplasia without the features of neurofibromatosis type 1 (NF1). A 17-year-old male patient presented with swelling in the superotemporal region of the right eye. Physical examination revealed facial asymmetry with a pulsatile, ill-defined, soft lesion with in the superotemporal region of the right orbit associated with pulsatile proptosis, downward dystopia, and hypotropia. Computer tomography imaging to establish a differential diagnosis showed temporal lobe herniation secondary to sphenoid wing dysplasia. The patient was assessed for NF1, which is most commonly associated with sphenoid wing dysplasia, but no evidence supporting the diagnosis was found. Patients presenting with proptosis should be carefully examined for pulsation and murmurs, and a trauma history should be investigated. Radiological imaging should be used to facilitate the differential diagnosis, and the current clinical condition should be managed with a multidisciplinary approach.
在本研究中，我们旨在报告一例因蝶骨翼发育不良引起的罕见搏动性眼球突出病例，且不伴有 1 型神经纤维瘤病（NF1）的特征。一名 17 岁男性患者因右眼上方眼眶肿胀就诊。体格检查发现面部不对称，右侧眼眶上方有一搏动性、边界不清的柔软病变，伴有搏动性眼球突出、向下斜视和下斜视。为建立鉴别诊断而进行的计算机断层扫描成像显示，继发于蝶骨翼发育不良的颞叶疝。对该患者进行了 NF1 的评估，NF1 最常与蝶骨翼发育不良相关，但未发现支持该诊断的证据。出现眼球突出的患者应仔细检查有无搏动和杂音，并应调查外伤史。影像学检查应有助于鉴别诊断，目前应采用多学科方法来处理患者的临床状况。
