Shelley India, Mahtabfar Aria, Farrell Christopher J
1Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania; and.
2Department of Neurological Surgery, Thomas Jefferson University, Philadelphia, Pennsylvania.
J Neurosurg Case Lessons. 2023 Jun 19;5(25). doi: 10.3171/CASE23192.
Subependymal giant cell astrocytoma (SEGA) is a benign intraventricular tumor classically arising near the Foramen of Monro. SEGAs almost always present as a component of tuberous sclerosis complex (TSC), an autosomal dominant disorder characterized by lesions in multiple organs.
A 22-year-old female with no past medical history presented with new-onset right-eye pressure, floaters in the right visual field, and pulsatile tinnitus. Imaging revealed an avidly enhancing mass abutting the right Foramen of Monro, causing obstructive hydrocephalus. Following resection, histopathological analysis identified the lesion as a SEGA. However, on further workup, the patient was found to have no genetic or clinical findings of TSC, which exemplifies a rare case of SEGA in the absence of a TSC diagnosis.
It is essential for physicians to be aware of the possibility of SEGA in the absence of other characteristics of TSC, which has many implications for a patient's clinical course. The authors present the seventh case of SEGA without genetic or clinical features of TSC described in the literature.
室管膜下巨细胞星形细胞瘤（SEGA）是一种良性脑室内肿瘤，典型地起源于孟氏孔附近。SEGA几乎总是作为结节性硬化症（TSC）的一部分出现，TSC是一种常染色体显性疾病，其特征是多个器官出现病变。
一名22岁无既往病史的女性出现右眼眼压升高、右视野有飞蚊症和搏动性耳鸣。影像学检查发现一个紧贴右孟氏孔的明显强化肿块，导致梗阻性脑积水。切除术后，组织病理学分析确定该病变为SEGA。然而，进一步检查发现该患者没有TSC的基因或临床特征，这是一例罕见的无TSC诊断的SEGA病例。
医生必须意识到在没有TSC其他特征的情况下存在SEGA的可能性，这对患者的临床病程有许多影响。作者介绍了文献中描述的第七例无TSC基因或临床特征的SEGA病例。
