PT  - JOURNAL ARTICLE
AU  - Alassiri, Ali H.
AU  - Alfayea, Turki M.
AU  - Aljared, Tariq I.
AU  - Alenezi, Khaled R.
TI  - Sporadic subependymal giant cell astrocytoma with somatic <em>TSC2</em> mutation: A case report
AID  - 10.17712/nsj.2024.2.20230089
DP  - 2024 Apr 01
TA  - Neurosciences Journal
PG  - 139--143
VI  - 29
IP  - 2
4099  - http://nsj.org.sa/content/29/2/139.short
4100  - http://nsj.org.sa/content/29/2/139.full
SO  - Neurosciences (Riyadh)2024 Apr 01; 29
AB  - Subependymal giant cell astrocytoma (SEGA) is a rare circumscribed astrocytic glioma that occurs in approximately 25% of all tuberous sclerosis (TSC) cases. Herein, we discuss an atypical presentation of SEGA, including the genetic alterations, impact on clinical presentation, and the determinants of each medical and surgical treatment option. A 14-year-old girl presented with intermittent headache and a right intraventricular mass originating near the foramen of Monro. The tumor’s proximity to critical structures necessitated maximum safe resection, which improved her symptoms. Histological findings indicated SEGA, and genetic sequencing revealed a TSC2 mutation. However, complete clinical and radiological evaluations failed to reveal TSC. Two months later, a new subependymal nodule was incidentally found. She had a recurrent left occipital horn lesion and diffuse smooth leptomeningeal enhancement with no spine drop metastases. She was administered everolimus as the tumor was considered unresectable. Subsequent imaging revealed a reduction in both residual and new lesions.