High-Grade Optic Glioma in an Elderly Patient With Neurofibromatosis Type 1
High-Grade Optic Glioma in an Elderly Patient With Neurofibromatosis Type 1
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患有 1 型神经纤维瘤病的老年患者的高级别视神经胶质瘤
DOI：
10.1097/wno.0000000000001532
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发表时间：
2022
影响因子：
2.9
通讯作者：
Kurosaki Masamichi
中科院分区：
文献类型：
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作者：
Amisaki Hidefumi;Kambe Atsushi;Tetsuji Uno;Sakamoto Makoto;Yamasaki Atsushi;Kurosaki Masamichi
Hidefumi Amisaki， MD, Atsushi Kambe， MD, PhD, Uno Tetsuji， MD, Makoto Sakamoto， MD, PhD, Atsushi Yamasaki， MD, PhD, Masamichi Kurosaki， MD, PhD .高级别视神经胶质瘤是罕见的侵袭性肿瘤，由Hoyt等人于1973年首次描述(1)。这些肿瘤可沿整个视神经通路发生：视神经、视交叉或视束。病理分类为间变性星形细胞瘤（WHO分级3级）或胶质母细胞瘤（WHO分级4级）。高级别视神经胶质瘤患者通常在几周内出现双侧视力丧失，并在诊断后1-2年内死亡。基于最初的临床和放射学评估，他们经常被误诊为视神经炎、前缺血性视神经病变或原发性视网膜血管闭塞，从而延误了适当的治疗计划。组织活检是确诊的必要条件。视神经胶质瘤多为低级别肿瘤，常见于1型神经纤维瘤病（NF1）患儿。高级别视神经胶质瘤常发生在成人，但从未报道过成人NF1患者。在这项研究中，我们报告了第一位老年NF1患者的高级别视神经胶质瘤。患者在全切除后18个月无病，但由于辐射引起的脑白质病而发展为痴呆。66岁男性，右眼视力减退1周。他没有其他神经症状右眼视力在另一家医院为手部运动水平，但2天后到我们眼科就诊时已恶化为光感。眼底检查显示严重的右侧视盘水肿并出血（图1A）。他的皮肤上有卡萨梅-奥-莱斑和神经纤维瘤，并被我们机构的皮肤科医生诊断为NF1。患者无恶性肿瘤病史，从未接受过化疗或放疗治疗。他的妹妹也有类似的皮肤发现，但没有被诊断为NF1。头部MRI显示右侧视神经眶内部分在T2成像上具有高信号强度（图1B）。钆在T1成像上呈非均匀增强（图1C、D）。我们诊断为视神经炎，并进行了甲基强的松龙脉冲治疗（1000mg /天静脉注射，连续3天）。然而，患者的视力继续恶化。
Hidefumi Amisaki, MD, Atsushi Kambe, MD, PhD, Uno Tetsuji, MD, Makoto Sakamoto, MD, PhD, Atsushi Yamasaki, MD, PhD, Masamichi Kurosaki, MD, PhD ηigh-grade optic gliomas are rare, invasive neoplasms first described by Hoyt et al in 1973 (1). These tumors can arise along the entire optic pathway: in the optic nerve, optic chiasm, or optic tract. They are pathologically classified as either anaplastic astrocytoma (WHO Grade 3) or glioblastoma (WHO Grade 4). Patients with high-grade optic glioma usually have bilateral visual loss within a few weeks and die within 1–2 years of diagnosis. Based on initial clinical and radiological evaluation, they are frequently misdiagnosed with optic neuritis, anterior ischemic optic neuropathy, or primary retinal vascular occlusion, which delays proper treatment planning. Tissue biopsy is essential to confirm the diagnosis. Optic gliomas are mostly low-grade tumors that frequently occur in children with neurofibromatosis type 1 (NF1). High-grade optic gliomas often occur in adults, but they have never been reported in adult patients with NF1. In this study, we report the first case of high-grade optic glioma in an elderly patient with NF1. The patient was disease-free for 18 months after total resection but developed dementia due to radiation-induced leukoencephalopathy. A 66-year-old man presented with a 1-week history of visual failure in his right eye. He had no other neurological symptoms. Visual acuity in the right eye was at the hand movement level at another hospital, but when he visited our ophthalmology unit 2 days later, it had deteriorated to light perception. Funduscopic examination revealed severe right optic disc edema with hemorrhage (Fig. 1A). He had café-au-lait spots and neurofibromas on the skin and was diagnosed with NF1 by a dermatologist at our institution. He had no history of malignancy and had never received chemotherapy or radiotherapy for cancer treatment. His sister had similar skin findings but had not been diagnosed with NF1.Head MRI revealed that the intraorbital portion of the right optic nerve had high signal intensity on T2 imaging (Fig. 1B). It had heterogeneous enhancement on T1 imaging with gadolinium (Fig. 1C, D). We diagnosed optic neuritis and performed pulse therapy with methylprednisolone (1,000 mg/day intravenously for 3 consecutive days). However, the patient’s visual acuity continued to deteriorate.