Yolk sac tumor of the bilateral basal ganglia in a patient with Down syndrome
Yolk sac tumor of the bilateral basal ganglia in a patient with Down syndrome
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DOI：
10.1007/s10014-012-0134-9
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发表时间：
2013-10-01
影响因子：
3.3
通讯作者：
Suzuki, Michiyasu
中科院分区：
文献类型：
--
作者：
Sugimoto, Kazutaka;Ideguchi, Makoto;Suzuki, Michiyasu
我们报告一个17岁唐氏综合症女孩的颅内卵黄囊瘤病例，她表现为左侧缓慢进行性轻偏瘫。最初的磁共振成像（MRI）显示一个小区域的不明确的异常信号强度，没有一个肿块在双侧基底节。这些发现进展非常缓慢，持续2年，但在上次扫描后4个月，病变迅速进展为MRI上的巨大肿块。患者随后接受了血液检查和内镜活检，并最终被诊断为卵黄囊瘤。在可行的情况下尽快进行标准的铂类化疗和放疗。唐氏综合征患者的实体癌发生率通常低于没有这种疾病的个体。脑肿瘤在唐氏综合征中也很罕见，但其中一半是生殖细胞肿瘤。此外，基底节区缓慢进展的非肿瘤样病变也可能是生殖细胞肿瘤。因此，唐氏综合征患者基底神经节MRI信号异常需要仔细和频繁的随访扫描，这是基于生殖细胞肿瘤可能表现出快速生长的可能性。
We report a case of intracranial yolk sac tumor in a 17-year-old girl with Down syndrome who presented with left slowly progressive hemiparesis. Initial magnetic resonance imaging (MRI) showed a small area of ill-defined abnormal signal intensity without a mass in the bilateral basal ganglia. These findings progressed very slowly for 2 years, but then the lesion rapidly progressed to a huge mass on MRI 4 months after the previous scan. The patient subsequently underwent a blood examination and endoscopic biopsy, and was finally diagnosed with yolk sac tumor. Standard platinum-based chemotherapy and radiotherapy were performed as soon as practicable. The frequency of solid cancer in patients with Down syndrome is generally lower than that in individuals without this disorder. Brain tumor is also rare in Down syndrome, but half of these cases are germ cell tumors. Moreover, slowly progressive non-tumor-like lesions in the basal ganglia may also be germ cell tumors. Therefore, MRI signal abnormalities in the basal ganglia in patients with Down syndrome require careful and frequent follow-up scans based on the possibility of a germ cell tumor that may exhibit rapid growth.