Lai Yi-Fen, Lee Lung-Chi, Chen Yi-Hao, Chien Ke-Hung
Department of Ophthalmology, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan.
Medicine (Baltimore). 2021 Oct 22;100(42):e27575. doi: 10.1097/MD.0000000000027575.
Neurofibromatosis type 1 (NF1) is a hereditary disease characterized by café-au-lait spots, peripheral neurofibromas, Lisch nodules, optic nerve glioma, and sphenoid wing dysplasia. Pulsating proptosis is associated with a sphenoid bony defect. Heavy eye syndrome is characterized by acquired esohypotropia in patients with high myopia. This study aimed to describe the presentation of pulsating proptosis and heavy eye syndrome precipitated by NF1 and its management.
A 41-year-old woman presented with progressive pulsating proptosis and hypodeviation of the right eye over the past 2 years. The axial length of the right eye was 36.81 mm. The right eye presented with esohypotropia and hypoglobus. The ocular motility examination showed limitations in all directions, especially in supraduction. Brain computed tomography revealed sphenoid wing dysplasia of the right orbit. The meningocele protruded through the orbital defect, lifting the globe. Brain magnetic resonance imaging demonstrated superior rectus muscle (SR) medial displacement and lateral rectus muscle inferior displacement. Physical examination revealed café-au-lait macules and neurofibromas on the trunk.
NF1 with pulsating proptosis and heavy eye syndrome.
The patient declined neurosurgery due to risk and economic reasons. To manage her main concern regarding cosmetics, we performed orbital floor decompression, SR resection with advancement, maximal hang-back recession of the inferior rectus muscle, and a partial Jensen's procedure.
Proptosis was reduced. The eye position became more symmetrical. The range of eye movements was also increased.
This case describes a rare synchronous presentation of pulsating proptosis and heavy eye syndrome precipitated by NF1. Adult-onset presentation implied a progressive process in NF1. The case also showed a different etiology from that of typical heavy eye syndrome. It reminds ophthalmologists that orbital imaging should be performed in high myopia patients with strabismus to evaluate the extraocular muscle pathway. Furthermore, the case demonstrated a management that avoided the risk and expensive cost of neurosurgery, which has not been reported.
1型神经纤维瘤病（NF1）是一种遗传性疾病，其特征为咖啡牛奶斑、周围神经纤维瘤、Lisch结节、视神经胶质瘤和蝶骨翼发育异常。搏动性眼球突出与蝶骨骨质缺损有关。重度眼综合征的特征是高度近视患者出现后天性上睑下垂。本研究旨在描述由NF1引发的搏动性眼球突出和重度眼综合征的表现及其治疗方法。
一名41岁女性在过去2年中出现进行性搏动性眼球突出和右眼低斜。右眼眼轴长度为36.81毫米。右眼表现为上睑下垂和眼球下转。眼球运动检查显示各个方向均受限，尤其是上转受限。脑部计算机断层扫描显示右眼眶蝶骨翼发育异常。脑膜膨出通过眼眶缺损突出，抬高了眼球。脑部磁共振成像显示上直肌内侧移位和外直肌下方移位。体格检查发现躯干有咖啡牛奶斑和神经纤维瘤。
NF1伴搏动性眼球突出和重度眼综合征。
由于风险和经济原因，患者拒绝神经外科手术。为了解决她主要关心的美容问题，我们进行了眶底减压、上直肌切除并前移、下直肌最大程度的后徙退缩以及部分詹森手术。
眼球突出减轻。眼位变得更加对称。眼球运动范围也增加了。
本病例描述了由NF1引发的搏动性眼球突出和重度眼综合征罕见的同步表现。成人发病提示NF1有一个渐进过程。该病例还显示出与典型重度眼综合征不同的病因。它提醒眼科医生，对于患有斜视的高度近视患者应进行眼眶成像，以评估眼外肌路径。此外，该病例展示了一种避免神经外科手术风险和高昂费用的治疗方法，此前尚未有报道。
