Abstract：
Individuals with 21 trisomy or Down syndrome (DS) are known to have an increased risk of acute leukemia, while they rarely develop solid or central nervous system (CNS) tumors. Atypical teratoid rhabdoid tumor (ATRT) is a highly aggressive CNS-WHO grade 4 neoplasm, which has never been reported in association with Down syndrome. We present a case study of a 14-year-old female with Down syndrome, diagnosed with intradural-extramedullary spinal ATRT. The chief complaints included bilateral lower limb weakness, constipation, and urinary incontinence for 2 weeks. Surgery was scheduled, and a biopsy was taken. The histopathology, immunohistochemistry, and molecular analysis confirmed the diagnosis of the ATRT-MYC/group 2B subgroup. This report highlights the challenges of managing a patient with complex medical conditions. Moreover, it adds to the existing literature on CNS tumors in patients with Down syndrome.
摘要：
已知患有21三体或唐氏综合征（DS）的个体患急性白血病的风险增加，虽然他们很少发展实体或中枢神经系统（CNS）肿瘤。非典型畸胎瘤样横纹肌样瘤（ATRT）是一种高度侵袭性的CNS-WHO4级肿瘤，从未报道过与唐氏综合征有关。我们提供了一个14岁女性唐氏综合症的案例研究，诊断为硬膜内-髓外脊髓ATRT。主要投诉包括双侧下肢无力，便秘,尿失禁2周。手术已经安排好了,做了活检.组织病理学,免疫组织化学，和分子分析证实了ATRT-MYC/组2B亚组的诊断。本报告强调了管理具有复杂医疗条件的患者的挑战。此外，它增加了关于唐氏综合征患者中枢神经系统肿瘤的现有文献。
