Morgacheva Daria, Daks Alexandra, Smirnova Anna, Kim Aleksandr, Ryzhkova Daria, Mitrofanova Lubov, Staliarova Alena, Omelina Evgeniya, Pindyurin Alexey, Fedorova Olga, Shuvalov Oleg, Petukhov Alexey, Dinikina Yulia
Almazov National Medical Research Centre, Saint Petersburg, Russia.
Laboratory of Gene Expression Regulation, Institute of Cytology, Russian Academy of Sciences, Saint Petersburg, Russia.
Front Pediatr. 2022 Jul 11;10:925340. doi: 10.3389/fped.2022.925340. eCollection 2022.
Medulloblastoma is one of the most common pediatric central nervous system malignancies worldwide, and it is characterized by frequent leptomeningeal metastasizing. We report a rare case of primary leptomeningeal medulloblastoma of an 11-year-old Caucasian girl with a long-term disease history, non-specific clinical course, and challenges in the diagnosis verification. To date, 4 cases of pediatric primary leptomeningeal medulloblastoma are reported, and all of them are associated with unfavorable outcomes. The approaches of neuroimaging and diagnosis verification are analyzed in the article to provide opportunities for effective diagnosis of this disease in clinical practice. The reported clinical case of the primary leptomeningeal medulloblastoma is characterized by MR images with non-specific changes in the brain and spinal cord and by 18FDG-PET/CT images with diffuse heterogeneous hyperfixation of the radiopharmaceutical along the whole spinal cord. The immunohistochemistry and next-generation sequencing analyses of tumor samples were performed for comprehensive characterization of the reported clinical case.
髓母细胞瘤是全球最常见的儿童中枢神经系统恶性肿瘤之一,其特征是频繁发生软脑膜转移。我们报告了一例罕见的原发性软脑膜髓母细胞瘤病例,患者为一名11岁的白种女孩,病程长,临床过程不具特异性,诊断验证存在挑战。迄今为止,已报道4例儿童原发性软脑膜髓母细胞瘤病例,所有病例预后均不佳。本文分析了神经影像学和诊断验证方法,为临床实践中有效诊断该疾病提供机会。所报告的原发性软脑膜髓母细胞瘤临床病例的特点是,磁共振成像显示脑和脊髓有非特异性改变,18氟脱氧葡萄糖正电子发射断层扫描/计算机断层扫描图像显示放射性药物沿整个脊髓弥漫性不均匀高度摄取。对肿瘤样本进行了免疫组织化学和二代测序分析,以全面描述所报告的临床病例。