Author:
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
Abstract
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.
Subject
Pediatrics, Perinatology and Child Health