# Subependymal Giant Cell Astrocytomas Without Tuberous Sclerosis: A Case Report on a Rare Medical Condition

**Authors:** Pranjali Nibe, Rupali Bavikar, Charusheela Gore, Gayatri Bhuibhar

PMC · DOI: 10.7759/cureus.64313 · 2024-07-11

## TL;DR

A 22-year-old man was diagnosed with a rare brain tumor called SEGA that was not linked to a genetic condition called tuberous sclerosis.

## Contribution

This case report highlights the possibility of SEGAs occurring without tuberous sclerosis in adults.

## Key findings

- The tumor was confirmed through radiological investigations and specific protein expression.
- No germline mutations in TSC1 and TSC2 were found, ruling out tuberous sclerosis.
- The case emphasizes the importance of considering SEGAs in adult patients without TSC.

## Abstract

Subependymal giant cell astrocytomas (SEGAs) are benign, slow-growing, noninvasive tumors frequently associated with the tuberous sclerosis complex (TSC). The tumor's location and the patient's age should be considered carefully before diagnosis. Considering SEGA as a differential diagnosis, even in adult patients without TSC, is essential. In the present case, a 22-year-old male presented with a progressive headache, dizziness, and blurring of vision. Radiological investigations confirmed the site of the tumor, and a positive expression of thyroid transcription factor 1 in the ganglion cell component, along with the absence of germline mutation in TSC1 and TSC2, led to the final diagnosis of SEGA without TSC.

## Linked entities

- **Genes:** TSC1 (TSC complex subunit 1) [NCBI Gene 7248], TSC2 (TSC complex subunit 2) [NCBI Gene 7249]
- **Diseases:** tuberous sclerosis (MONDO:0001734)

## Full-text entities

- **Genes:** NKX2-1 (NK2 homeobox 1) [NCBI Gene 7080] {aka BCH, BHC, NK-2, NKX2.1, NKX2A, NMTC1}, TSC1 (TSC complex subunit 1) [NCBI Gene 7248] {aka LAM, TSC}, TSC2 (TSC complex subunit 2) [NCBI Gene 7249] {aka LAM, PPP1R160, TSC4}
- **Diseases:** SEGAs (MESH:D001254), headache (MESH:D006261), Medical Condition (MESH:D000071069), TSC (MESH:D014402), tumor (MESH:D009369), dizziness (MESH:D004244), blurring of vision (MESH:D014786)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Figures

3 figures with captions in the complete paper: https://tomesphere.com/paper/PMC11316845/full.md

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Source: https://tomesphere.com/paper/PMC11316845