Subependymal giant cell astrocytoma in the absence of tuberous sclerosis: illustrative case.
astrocytomas
subependymal giant cell astrocytoma
tuberous sclerosis complex
tumor
Journal
Journal of neurosurgery. Case lessons
ISSN: 2694-1902
Titre abrégé: J Neurosurg Case Lessons
Pays: United States
ID NLM: 9918227275606676
Informations de publication
Date de publication:
19 Jun 2023
19 Jun 2023
Historique:
received:
22
04
2023
accepted:
16
05
2023
medline:
24
6
2023
pubmed:
24
6
2023
entrez:
24
6
2023
Statut:
epublish
Résumé
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.
Sections du résumé
BACKGROUND
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
METHODS
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
CONCLUSIONS
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.
Identifiants
pubmed: 37354433
doi: 10.3171/CASE23192
pii: CASE23192
pmc: PMC10550529
doi:
pii:
Types de publication
Journal Article
Langues
eng
Références
An Bras Dermatol. 2012 Mar-Apr;87(2):184-96
pubmed: 22570021
J Clin Neurosci. 2020 Dec;82(Pt A):26-28
pubmed: 33317733
Eur J Neurol. 2009 Jun;16(6):691-6
pubmed: 19236458
PLoS Genet. 2015 Nov 05;11(11):e1005637
pubmed: 26540169
Radiol Case Rep. 2020 Nov 16;16(1):180-184
pubmed: 33250950
Childs Nerv Syst. 2021 Apr;37(4):1381-1385
pubmed: 32808065
An Bras Dermatol. 2018 Jun;93(3):323-331
pubmed: 29924239
Pediatr Ann. 2017 Apr 1;46(4):e166-e171
pubmed: 28414398
Eur J Radiol. 2000 Jan;33(1):55-8
pubmed: 10674791
AJNR Am J Neuroradiol. 1990 May;11(3):567-74
pubmed: 2349896
Eur J Hum Genet. 2005 Jun;13(6):731-41
pubmed: 15798777
Clin Neurol Neurosurg. 2016 Nov;150:177-180
pubmed: 27690251
J Neurosurg Pediatr. 2015 Aug;16(2):134-7
pubmed: 25978531
Neurosurgery. 1991 Jun;28(6):864-8
pubmed: 2067610
Pathol Oncol Res. 2004;10(4):219-24
pubmed: 15619643
J Mol Diagn. 2005 Oct;7(4):544-9
pubmed: 16237225
Pediatr Neurol. 2021 Oct;123:50-66
pubmed: 34399110
J Clin Neurosci. 2002 Mar;9(2):137-41
pubmed: 11922700
Childs Nerv Syst. 2003 Apr;19(4):232-43
pubmed: 12715190