Nozawa Akifumi, Ozeki Michio, Kuze Bunya, Asano Takahiko, Matsuoka Kentaro, Fukao Toshiyuki
Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan.
Department of Otolaryngology, Graduate School of Medicine, Gifu University, Gifu, Japan.
Pediatr Blood Cancer. 2016 May;63(5):931-4. doi: 10.1002/pbc.25886. Epub 2015 Dec 29.
Gorham-Stout disease (GSD) is a rare disorder of unknown etiology. We present a 6-year-old male with GSD involving the skull base who presented with recurrent cerebrospinal fluid (CSF) rhinorrhea, severe hearing loss, and facial palsy secondary to cerebellar herniation into the internal auditory canal. After 2 months of treatment with pegylated interferon (IFN) α-2b (50 μg/week), his hearing recovered dramatically. Two years later, new bone formation appeared radiologically and IFN was switched to sirolimus. One year after the switch, CSF rhinorrhea disappeared. Antiangiogenic therapy might inhibit proliferation of vascular endothelial cells in osteolytic lesions and lead to new bone formation.
戈勒姆-斯托特病（GSD）是一种病因不明的罕见疾病。我们报告一名6岁男性患有累及颅底的GSD，表现为反复脑脊液（CSF）鼻漏、严重听力丧失以及继发于小脑疝入内耳道的面神经麻痹。经聚乙二醇化干扰素（IFN）α-2b（50μg/周）治疗2个月后，他的听力显著恢复。两年后，影像学上出现新骨形成，IFN改为西罗莫司。换药一年后，脑脊液鼻漏消失。抗血管生成治疗可能抑制溶骨性病变中血管内皮细胞的增殖并导致新骨形成。
