Rushing Elisabeth J, Sandberg Glenn D, Judkins Alexander R, Vezina Gilbert, Kadom Nadja, Myseros John S, Packer Roger J, Santi Mariarita
Department of Neuropathology and Ophthalmic Pathology, Armed Forces Institute of Pathology, Washington, DC 20306-6000, USA.
J Neurosurg. 2006 Feb;104(2 Suppl):143-8. doi: 10.3171/ped.2006.104.2.12.
Primary germ cell neoplasms of the central nervous system typically develop as midline mass lesions during the first three decades of life. The authors present two cases with atypical clinicopathological features that stimulate discussion on the diagnosis and management of these tumors. The first patient was an 11-year-old boy of Japanese-American heritage who presented with a 6-month-long history of cognitive decline, difficulty swallowing, unsteady gait, and intermittent right-sided posturing. The initial magnetic resonance (MR) image of the brain displayed a mildly increased T2 signal in the cerebral peduncles, putamen, and globus pallidus bilaterally. Follow-up MR images showed an increase in the T2 signal abnormality in the left basal ganglia. The second patient was a 10-year-old Caucasian boy who presented with diabetes insipidus and subsequently displayed progressive fatigue, involuntary eye and mouth movements, and obsessive-compulsive behavior. An MR image demonstrated signs of mineral deposition and foci of increased T2 signal in both basal ganglia. Follow-up MR images demonstrated a progressive increase in the T2 signal (which was then located within the mesial temporal lobe). A biopsy performed on the left thalamic lesion in the first patient revealed a germinoma. The patient was treated with chemotherapy and died 2 years later. The second patient underwent a lumbar puncture, which demonstrated an elevated level of beta-human chorionic gonadotropin. Despite the lack of a mass on MR images in this child, the need for a tissue diagnosis prompted the authors to perform an anterior temporal lobectomy. The diagnosis of diffuse germinoma was confirmed, and the patient was treated with adjunctive chemotherapy. Although uncommon, germ cell tumors can present outside the midline and exhibit a multifocal growth pattern.
中枢神经系统原发性生殖细胞肿瘤通常在生命的头三十年发展为中线肿块病变。作者介绍了两例具有非典型临床病理特征的病例,引发了对这些肿瘤诊断和管理的讨论。首例患者是一名11岁的日裔美国男孩,有6个月认知能力下降、吞咽困难、步态不稳和间歇性右侧姿势异常的病史。脑部最初的磁共振(MR)图像显示双侧大脑脚、壳核和苍白球的T2信号轻度增强。后续MR图像显示左侧基底神经节的T2信号异常增加。第二例患者是一名10岁的白人男孩,出现尿崩症,随后出现进行性疲劳、不自主的眼口运动和强迫行为。MR图像显示双侧基底神经节有矿物质沉积迹象和T2信号增强灶。后续MR图像显示T2信号逐渐增加(随后位于颞叶内侧)。对首例患者左侧丘脑病变进行活检,结果显示为生殖细胞瘤。该患者接受了化疗,2年后死亡。第二例患者接受了腰椎穿刺,结果显示β-人绒毛膜促性腺激素水平升高。尽管该患儿MR图像上没有肿块,但由于需要组织诊断,作者对其进行了前颞叶切除术。确诊为弥漫性生殖细胞瘤,该患者接受了辅助化疗。尽管罕见,但生殖细胞肿瘤可出现在中线以外并呈现多灶性生长模式。