Departments of Neurology (DAC, MTB, JJC), Ophthalmology (MTB, JAG, JJC), Laboratory Medicine and Pathology (CG), Radiology (LJE), Mayo Clinic College of Medicine, Rochester, Minnesota.
J Neuroophthalmol. 2020 Mar;40(1):112-116. doi: 10.1097/WNO.0000000000000893.
A 19-year-old man presented with a 3-year history of episodic headaches, right hemiparesis, and progressive vision loss in both eyes. Initially, extensive laboratory testing was unrevealing. MRI later demonstrated progressive enlargement and enhancement of the left optic nerve poorly correlated with the timing of his clinical manifestations. There was no clinical or radiological response to treatment with corticosteroids, mycophenolate mofetil, or rituximab administered empirically for possible inflammatory processes. Later in the disease course, he developed diabetes insipidus (DI), worsening vision to light perception bilaterally, severe cognitive decline, and spastic quadriparesis. Cerebrospinal fluid (CSF) beta human chorionic gonadotropin (β-hCG) was elevated. Eventually, a left optic nerve biopsy was performed, which was consistent with an intracranial pure germinoma with infiltration of the optic nerve and disseminated leptomeningeal disease. Although rare, intracranial germ cell tumors can primarily involve the anterior visual pathways and should be considered in the setting of DI and elevated CSF β-hCG.
一位 19 岁男性，以 3 年的间歇性头痛、右侧偏瘫和双眼进行性视力丧失为主要表现。最初，广泛的实验室检查结果无明显异常。后来的 MRI 显示，左侧视神经逐渐增大和强化，与临床表现的时间相关性差。经验性地给予皮质类固醇、霉酚酸酯或利妥昔单抗治疗可能的炎症过程，但没有临床或影像学反应。疾病后期，他出现了尿崩症（DI），双侧视力降至光感，严重认知能力下降，痉挛性四肢瘫痪。脑脊液（CSF）β-人绒毛膜促性腺激素（β-hCG）升高。最终，进行了左侧视神经活检，结果符合颅内单纯生殖细胞瘤，视神经浸润和弥漫性软脑膜疾病。尽管罕见，但颅内生殖细胞瘤可主要累及前视路，在出现 DI 和 CSF β-hCG 升高时应考虑该疾病。
