Huang Zhen-Chao, Dong Qing, Song En-Peng, Chen Zhi-Jie, Zhang Jin-Hua, Hou Bo, Lu Zheng-Qi, Qin Feng
Department of Neurosurgery, The Third Affiliated Hospital of Sun Yat-Sen University, Guangzhou 510630, Guangdong Province, China.
Department of Neurology, The Third Affiliated Hospital of Sun Yat-Sen University, Guangzhou 510630, Guangdong Province, China.
World J Clin Cases. 2020 Oct 6;8(19):4558-4564. doi: 10.12998/wjcc.v8.i19.4558.
The early diagnosis of basal ganglia and thalamus germinomas is often difficult due to the absence of elevated tumor markers, and atypical clinical symptoms and neuroimaging features.
Four male children aged 8 to 15 years were diagnosed with germinomas in the basal ganglia and thalamus by stereotactic biopsy from 2017 to 2019. All patients developed hemiplegia except patient 4 who also had cognitive decline, speech disturbance, nocturnal enuresis, polydipsia, polyuria, precocious puberty and abnormalities of thermoregulation. All four cases were alpha-fetoprotein and beta-human chorionic gonadotrophin (β-HCG) negative except patient 3 who had slightly elevated β-HCG in cerebrospinal fluid (CSF). No malignant cells were detected in the patients' CSF. Brain magnetic resonance imaging findings were diverse in these patients with the exception of the unique and common characteristics of ipsilateral hemisphere atrophy, especially in the cerebral peduncle. All patients were diagnosed with germinomas of the basal ganglia and thalamus by stereotactic brain biopsy.
Stereotactic brain biopsy is necessary to confirm the diagnosis of ectopic germinomas. Serial neuroimaging studies can not only differentiate disease but also determine the biopsy site.
由于缺乏肿瘤标志物升高以及非典型临床症状和神经影像学特征,基底节和丘脑生殖细胞瘤的早期诊断往往困难。
2017年至2019年,4名年龄在8至15岁的男性儿童通过立体定向活检被诊断为基底节和丘脑生殖细胞瘤。除患者4外,所有患者均出现偏瘫,患者4还伴有认知功能减退、言语障碍、夜间遗尿、烦渴、多尿、性早熟和体温调节异常。除患者3脑脊液中β-人绒毛膜促性腺激素(β-HCG)略有升高外,所有4例患者的甲胎蛋白和β-HCG均为阴性。患者脑脊液中未检测到恶性细胞。这些患者的脑磁共振成像表现多样,但均有同侧半球萎缩的独特共同特征,尤其是在大脑脚。所有患者均通过立体定向脑活检诊断为基底节和丘脑生殖细胞瘤。
立体定向脑活检对于确诊异位生殖细胞瘤是必要的。系列神经影像学研究不仅可以鉴别疾病,还可以确定活检部位。