Arita Hideyuki, Narita Yoshitaka, Ohno Makoto, Miyakita Yasuji, Okita Yoshiko, Ide Takafumi, Shibui Soichiro
Department of Neurosurgery and Neuro-Oncology, National Cancer Center Hospital, 5-1-1, Tsukiji, Chuo-ku, Tokyo 104-0045, Japan.
Childs Nerv Syst. 2013 Feb;29(2):341-5. doi: 10.1007/s00381-012-1948-9. Epub 2012 Oct 30.
Glioma and moyamoya syndrome are both potential complications of neurofibromatosis type 1 (NF1). Here, we report the first case of NF1 concomitantly presenting with glioblastoma 10 years after surgical treatment of moyamoya syndrome.
A 14-year-old boy with NF1 was incidentally diagnosed by magnetic resonance imaging (MRI) with a thalamic tumor during a follow-up for moyamoya syndrome, which had been treated with surgery 10 years earlier. After observation for 36 months, he developed left hemiparesis, and MRI revealed an increase in tumor size and obstructive hydrocephalus due to the tumor. Needle biopsy was performed through small craniotomy, and the histological diagnosis was glioblastoma. After concurrent chemoradiotherapy with 23 cycles of temozolomide, partial response of the tumor was observed. However, 24 months after the start of the initial therapy, the tumor showed regrowth, and the patient died 30 months after the initial therapy. No cerebrovascular events associated with moyamoya syndrome and chemoradiotherapy were observed during the clinical course of glioblastoma.
Glioblastoma is a fatal disease in children, and our patient successfully received chemoradiotherapy with temozolomide despite the diagnoses of NF1 and moyamoya syndrome. Although radiotherapy or chemotherapy potentially causes cerebrovascular complications, chemoradiotherapy might be feasible for glioblastoma treatment in patients with moyamoya syndrome and NF1. The following issues are discussed in the management of the present case: the indication of biopsy in NF1 cases, the method of surgery, and the treatment protocol for tumors concomitant with moyamoya disease or syndrome.
胶质瘤和烟雾病综合征都是1型神经纤维瘤病（NF1）的潜在并发症。在此，我们报告首例在烟雾病综合征手术治疗10年后同时出现胶质母细胞瘤的NF1病例。
一名14岁NF1男孩在对10年前已接受手术治疗的烟雾病综合征进行随访期间，通过磁共振成像（MRI）偶然诊断出丘脑肿瘤。观察36个月后，他出现左侧偏瘫，MRI显示肿瘤体积增大并因肿瘤导致梗阻性脑积水。通过小骨窗开颅进行了穿刺活检，组织学诊断为胶质母细胞瘤。在进行23个周期替莫唑胺同步放化疗后，观察到肿瘤部分缓解。然而，初始治疗开始24个月后，肿瘤复发，患者在初始治疗30个月后死亡。在胶质母细胞瘤临床病程中未观察到与烟雾病综合征及放化疗相关的脑血管事件。
胶质母细胞瘤在儿童中是一种致命疾病，尽管我们的患者被诊断为NF1和烟雾病综合征，但仍成功接受了替莫唑胺放化疗。尽管放疗或化疗可能导致脑血管并发症，但对于患有烟雾病综合征和NF1的患者，放化疗可能是治疗胶质母细胞瘤的可行方法。本病例的管理中讨论了以下问题：NF1病例活检的指征、手术方法以及与烟雾病或烟雾病综合征相关肿瘤的治疗方案。
