Subependymal giant cell astrocytoma in the absence of tuberous sclerosis: illustrative case.

Autor: Shelley I; 1Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania; and., Mahtabfar A; 2Department of Neurological Surgery, Thomas Jefferson University, Philadelphia, Pennsylvania., Farrell CJ; 2Department of Neurological Surgery, Thomas Jefferson University, Philadelphia, Pennsylvania.
Jazyk: angličtina
Zdroj: Journal of neurosurgery. Case lessons [J Neurosurg Case Lessons] 2023 Jun 19; Vol. 5 (25). Date of Electronic Publication: 2023 Jun 19 (Print Publication: 2023).
DOI: 10.3171/CASE23192
Abstrakt: Background: 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.
Observations: 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.
Lessons: 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.
Databáze: MEDLINE