Ong Shi Hui, Lim Mervyn Jun Rui, Tan Char Loo, Kimpo Miriam Santiago, Vellayappan Balamurugan A, Tan Ai Peng, Hawkins Cynthia, Rutka James, Nga Vincent Diong Weng
Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.
Division of Neurosurgery, Department of Surgery, National University Hospital of Singapore, 5 Lower Kent Ridge Rd, Singapore, 119074, Singapore.
Childs Nerv Syst. 2025 Jan 24;41(1):94. doi: 10.1007/s00381-024-06658-4.
Congenital infantile brainstem high-grade gliomas (HGGs) are extremely rare. Given the limited literature characterizing this disease, management of these tumors remains challenging. Brainstem HGGs are generally associated with extremely poor prognosis. Limited reports of spontaneous regression of radiologically diagnosed infantile brainstem tumors exist in published literature. In this case report, we document the first histologically proven congenital brainstem HGG with molecular characteristics that did not fall under any previously well-defined pediatric brain tumor classifications. The tumor underwent regression after biopsy, documented on neuroimaging up to 2 years of age. A review of the literature was also performed to identify previously reported infantile brainstem HGGs and the management for such tumors. Our case highlights the value of performing histopathological confirmation to guide management and the possible existence of a subcategory of a congenital brainstem HGG with better prognosis.
先天性婴儿脑干高级别胶质瘤（HGGs）极为罕见。鉴于描述这种疾病的文献有限，这些肿瘤的治疗仍然具有挑战性。脑干HGGs通常预后极差。已发表的文献中存在关于经放射学诊断的婴儿脑干肿瘤自发消退的有限报告。在本病例报告中，我们记录了首例经组织学证实的先天性脑干HGG，其分子特征不属于任何先前明确的儿科脑肿瘤分类。活检后肿瘤出现消退，在2岁时的神经影像学检查中得到记录。我们还进行了文献综述，以确定先前报道的婴儿脑干HGGs以及此类肿瘤的治疗方法。我们的病例突出了进行组织病理学确诊以指导治疗的价值，以及可能存在预后较好的先天性脑干HGG亚类。
