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Sporadic subependymal giant cell astrocytoma with somatic mutation: A case report.
Neurosciences (Riyadh)
May 2024
From the College of Medicine (Alassiri, Alfayea), King Saud bin Abdulaziz University for Health Sciences, from the Department of Pathology and Laboratory Medicine (Alassiri), Department of Oncology (Alfayea), Department of Surgery (Aljared), Department of Medical Imaging (Alenezi), King Abdulaziz Medical City, and from the King Abdullah International Medical Research Center (Alassiri, Alfayea), Riyadh, Kingdom of Saudi Arabia.
Article Synopsis
- Subependymal giant cell astrocytoma (SEGA) is a rare type of brain tumor associated with tuberous sclerosis (TSC), affecting around 25% of TSC cases.
- A 14-year-old girl presented with headaches and an intraventricular mass near critical brain structures, leading to surgical removal, which alleviated her symptoms.
- Although she exhibited SEGA without a diagnosis of TSC, she developed new lesions later and was treated with everolimus, resulting in a reduction of her tumors on imaging.