Junior Antonio G, M P Abreu Nina, B Leal Marcus Vinícius, L A de Aquino Hilanne, C Rodrigues João Paulo, B Malveira Caio, P Silva Yael, P A Coimbra Pablo
Radiology, Icahn School of Medicine at Mount Sinai, New York, USA.
Department of Radiology, Antonio Prudente Hospital, Fortaleza, BRA.
Cureus. 2022 Mar 16;14(3):e23229. doi: 10.7759/cureus.23229. eCollection 2022 Mar.
Congenital brain tumors are extremely rare; even with advances in prenatal imaging tests, it is still uncommon. Congenital glioblastoma (GBM) is a rare childhood tumor. With less than 50 cases described in the literature, it corresponds to less than 2% of tumors in children under two months of life. Moreover, it has a markedly poor prognosis due to the risk of intracranial hemorrhage, especially during surgical resection. This study reports the case of a 20-day-old asymptomatic child who presented with increased head circumference during a pediatric routine check-up. A transfontanellar ultrasound was performed, exhibiting hydrocephalus, large parenchymal hemorrhage, and expansive formation. Magnetic resonance imaging pointed to a massive infiltrative lesion, with heterogeneous enhancement, delimiting central areas of necrosis with hematic material inside, associated with a compressive effect on the adjacent parenchyma. Additional histopathological analysis, immunohistochemistry, and DNA methylation test confirmed the diagnosis of GBM. The patient was submitted to surgical intervention and chemotherapy, achieving a 26-month-old survival by the time this study was written.
先天性脑肿瘤极为罕见；即便产前影像检查有所进展，其依然并不常见。先天性胶质母细胞瘤（GBM）是一种罕见的儿童肿瘤。文献中描述的病例不足50例，占两个月以下儿童肿瘤的比例不到2%。此外，由于颅内出血风险，尤其是在手术切除期间，其预后明显较差。本研究报告了一名20天大无症状儿童的病例，该儿童在儿科常规检查期间出现头围增大。进行了经囟门超声检查，显示有脑积水、大量实质内出血和占位性病变。磁共振成像显示有一个巨大的浸润性病变，强化不均匀，界定了内部有血性物质的中央坏死区域，对相邻实质有压迫作用。进一步的组织病理学分析、免疫组化和DNA甲基化检测确诊为GBM。该患者接受了手术干预和化疗，在撰写本研究时存活至26个月大。
