A new case of brainstem ischemic necrosis in a young woman with de novo neurofibromatosis type 2 (NF2) is reported, and given notable similarities to 7 prior cases of brainstem stroke in the literature, features defining a possible syndrome were sought.

Case review including detailed clinical assessment, neuroimaging analysis, genetic testing, and brain biopsy, followed by a multicase analysis.

Brainstem ischemia in juvenile NF2 typically occurs in teenagers without previously known NF2 as an acute, monophasic presentation with restricted diffusion in the midbrain or pons following a recent hypoperfusion event, normal vascular imaging, obvious intracranial imaging features of NF2, typical inactivating NF2 alterations, biopsy showing necrosis without small vessel pathology, and subsequent aggressive NF2 lesion progression.

Brainstem ischemia in juvenile NF2 is a rare syndrome of unclear etiology, possibly reflecting an unknown underlying vascular abnormality; a digenic effect is not excluded.

报告了一名新发 2 型神经纤维瘤病 (NF2) 的年轻女性脑干缺血性坏死的新病例，并鉴于文献中 7 例脑干中风病例的显着相似性，寻找定义可能综合征的特征。

病例回顾包括详细的临床评估、神经影像学分析、基因检测和脑活检，然后进行多病例分析。

青少年 NF2 脑干缺血通常发生在没有先前已知 NF2 的青少年中，表现为急性、单相表现，近期低灌注事件后中脑或脑桥弥散受限，血管成像正常，NF2 的明显颅内成像特征，典型的 NF2 失活改变，活检显示没有小血管病变的坏死，以及随后的侵袭性 NF2 病变进展。

幼年 NF2 脑干缺血是一种病因不明的罕见综合征，可能反映了未知的潜在血管异常；不排除双基因效应。