摘要目的 探讨神经纤维瘤病Ⅰ型患者合并蝶骨翼发育不良的病因、发病机制、临床表现、诊断及手术治疗方式、手术并发症和预后.方法 回顾性分析了1例神经纤维瘤病Ⅰ型合并蝶骨大翼发育不良患者的临床表现、影像学检查、治疗方式及预后.结果 本例患者为女性,14岁,临床表现为右侧搏动性突眼、视力消失、头面部"咖啡斑".影像学检查发现右侧眼眶扩大和蝶骨大翼完全缺失.术中使用人工"塑形"的钛网在眼眶和颅中窝之间作为"衬托物",在钛网上再覆盖骨膜进行颅底缺损重建术,术后发生手术相关性感染,经过抗感染和引流治疗后感染控制.患者术后1个月眼球突出明显改善,眼球搏动消失,随访28个月症状无复发,颅骨未见吸收.结论 神经纤维瘤病Ⅰ型患者合并蝶骨翼发育不良是一种罕见常染色体显性遗传性疾病,应根据患者的具体情况应进行个性化治疗.使用钛网经颅入路对蝶骨翼发育不良进行颅底重建是一种有效安全的方法,它能够改善临床症状且未见颅骨吸收,但是存在手术相关的感染风险.

abstractsObjective To discuss the etiology, pathogenesis, clinical manifestation, diagnosis and therapy of sphenoid wing dysplasia ( SWD ) associated with neurofibromatosis type Ⅰ( NF-Ⅰ) . Methods We retrospectively reviewed its clinical manifestations, imaging, surgical treatment, complications and postoperative outcome of one NF-Ⅰ patient with SWD. Results A 14 years-old girl presented with pulsating exophthalmos, loss of vision and café au lait spots. Radiological studies showed right-side orbital enlargement and complete absence of the greater wing of the sphenoid. Titanium mesh was tailored intraoperatively to close the defect as a barrier between the orbital cavity and the cranium and then covered by periosteum. The patient developed postoperative infectious which was controlled by after antibiotic treatment and proper drainage. Proptosis improved significantly after surgery within a month. Ocular pulsation subsided and clinical symptoms improved at 28-month follow-up. Conclusions Sphenoid greater wing dysplasia associated with neurofibromatosis type Ⅰ is a rare inherited autosomal dominant disorders. The treatment should be customized to each patient. Titanium mesh reconstruction is patients with symptomatic sphenoid dysplasia. It can correct the proptosis and pulsating exophthalmos without the risk of bone resorption and recurrence. However, high risk of infection is associated with the procedure.