Department of Neurosurgery, Johns Hopkins Hospital, Baltimore, MD, USA.
Department of Pediatric Neurosurgery, The Johns Hopkins University School of Medicine, Phipps Building 554, 600 N Wolfe St, Baltimore, MD, 21287, USA.
Childs Nerv Syst. 2023 Aug;39(8):2229-2232. doi: 10.1007/s00381-023-05904-5. Epub 2023 Mar 3.
We report the case of a 14-year-old boy who presented with extensive cerebellar and brainstem hemorrhage. Our presumptive diagnosis was a ruptured arteriovenous malformation (AVM), but two cerebral angiograms showed no significant vascular abnormalities. The patient underwent posterior fossa craniotomy and microsurgical evacuation of the hematoma. Pathological analysis of the hemorrhagic tissue made the diagnosis of diffuse midline glioma, H3 K27-altered (WHO grade 4), based on immunohistochemistry. He subsequently developed diffuse craniospinal leptomeningeal disease and progressed rapidly, with respiratory failure followed by severe neurologic decline without further hemorrhage. He was compassionately extubated at the request of the family and died before initiation of adjuvant therapy. This unusual case of a diffuse midline glioma presenting with massive hemorrhage underscores the importance of searching for an underlying etiology of hemorrhage in a child when a vascular lesion cannot be identified.
我们报告了一例 14 岁男孩，他表现为广泛的小脑和脑干出血。我们的初步诊断是破裂的动静脉畸形（AVM），但两次脑血管造影均未显示明显的血管异常。患者接受了后颅窝开颅术和血肿的显微镜下清除术。对出血组织的病理分析根据免疫组化结果做出弥漫性中线胶质瘤、H3 K27 改变（WHO 分级 4）的诊断。随后，他出现弥漫性颅脊髓软脑膜疾病，并迅速进展，出现呼吸衰竭，随后严重神经功能下降，没有进一步出血。应家属要求，他被同情性拔管，在辅助治疗开始前死亡。本例弥漫性中线胶质瘤伴大量出血的罕见病例强调了在不能确定血管病变时，为儿童的出血寻找潜在病因的重要性。
