{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T18:42:15Z","timestamp":1787510535186,"version":"build-2736575974"},"reference-count":38,"publisher":"Journal of Neurosurgery Publishing Group (JNSPG)","issue":"25","license":[{"start":{"date-parts":[[2023,6,19]],"date-time":"2023-06-19T00:00:00Z","timestamp":1687132800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,6,19]]},"abstract":"<jats:sec>\n                    <jats:title>BACKGROUND<\/jats:title>\n                    <jats:p>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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>OBSERVATIONS<\/jats:title>\n                    <jats:p>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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>LESSONS<\/jats:title>\n                    <jats:p>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\u2019s clinical course. The authors present the seventh case of SEGA without genetic or clinical features of TSC described in the literature.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3171\/case23192","type":"journal-article","created":{"date-parts":[[2023,6,27]],"date-time":"2023-06-27T02:24:53Z","timestamp":1687832693000},"source":"Crossref","is-referenced-by-count":6,"title":["Subependymal giant cell astrocytoma in the absence of tuberous sclerosis: illustrative case"],"prefix":"10.3171","volume":"5","author":[{"given":"India","family":"Shelley","sequence":"first","affiliation":[{"name":"Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aria","family":"Mahtabfar","sequence":"additional","affiliation":[{"name":"Department of Neurological Surgery, Thomas Jefferson University, Philadelphia, Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher J.","family":"Farrell","sequence":"additional","affiliation":[{"name":"Department of Neurological Surgery, Thomas Jefferson University, Philadelphia, Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1754","reference":[{"issue":"4","key":"b1","series-title":"Childs Nerv Syst","first-page":"232","article-title":"Subependymal giant cell astrocytoma in children with tuberous sclerosis","volume":"19","author":"Cuccia V","year":"2003","unstructured":"Cuccia V, Zuccaro G, Sosa F, Monges J, Lubienieky F, Taratuto AL. Subependymal giant cell astrocytoma in children with tuberous sclerosis. Childs Nerv Syst. 2003;19(4):232\u2013243.12715190"},{"issue":"2","key":"b2","series-title":"J Clin Neurosci","first-page":"137","article-title":"Tumours around the foramen of Monro: clinical and neuroimaging features and their differential diagnosis","volume":"9","author":"Nishio S","year":"2002","unstructured":"Nishio S, Morioka T, Suzuki S, Fukui M. Tumours around the foramen of Monro: clinical and neuroimaging features and their differential diagnosis. J Clin Neurosci. 2002;9(2):137\u2013141.11922700"},{"issue":"1","key":"b3","series-title":"Eur J Radiol","first-page":"55","article-title":"Solitary subependymal giant cell astrocytoma: case report","volume":"33","author":"Kashiwagi N","year":"2000","unstructured":"Kashiwagi N, Yoshihara W, Shimada N,  Solitary subependymal giant cell astrocytoma: case report. Eur J Radiol. 2000;33(1):55\u201358.10674791"},{"issue":"3","key":"b4","series-title":"AJNR Am J Neuroradiol","first-page":"567","article-title":"Lateral ventricular neoplasms of the brain: differential diagnosis based on clinical, CT, and MR findings","volume":"11","author":"Jelinek J","year":"1990","unstructured":"Jelinek J, Smirniotopoulos JG, Parisi JE, Kanzer M. Lateral ventricular neoplasms of the brain: differential diagnosis based on clinical, CT, and MR findings. AJNR Am J Neuroradiol. 1990;11(3):567\u2013574."},{"issue":"4","key":"b5","series-title":"Pathol Oncol Res","first-page":"219","article-title":"Subependymal giant cell astrocytoma\u2014a clinicopathological study of 23 cases with special emphasis on histogenesis","volume":"10","author":"Sharma MC","year":"2004","unstructured":"Sharma MC, Ralte AM, Gaekwad S, Santosh V, Shankar SK, Sarkar C. Subependymal giant cell astrocytoma\u2014a clinicopathological study of 23 cases with special emphasis on histogenesis. Pathol Oncol Res. 2004;10(4):219\u2013224.15619643"},{"issue":"2","key":"b6","series-title":"An Bras Dermatol","first-page":"184","article-title":"Tuberous sclerosis complex","volume":"87","author":"Rodrigues DA","year":"2012","unstructured":"Rodrigues DA, Gomes CM, Costa IMC. Tuberous sclerosis complex. An Bras Dermatol. 2012;87(2):184\u2013196.22570021"},{"issue":"1","key":"b7","series-title":"Radiol Case Rep","first-page":"180","article-title":"A solitary extraventricular subependymal giant cell astrocytoma in the absence of tuberous sclerosis","volume":"16","author":"Tompe AP","year":"2020","unstructured":"Tompe AP, Sargar KM, Kazmi SAJ, Shimony N. A solitary extraventricular subependymal giant cell astrocytoma in the absence of tuberous sclerosis. Radiol Case Rep. 2020;16(1):180\u2013184.33250950"},{"issue":"4","key":"b8","series-title":"Pediatr Ann","first-page":"e166","article-title":"Tuberous sclerosis complex: a review","volume":"46","author":"Randle SC","year":"2017","unstructured":"Randle SC. Tuberous sclerosis complex: a review. Pediatr Ann. 2017;46(4):e166\u2013e171.28414398"},{"issue":"3","key":"b9","series-title":"An Bras Dermatol","first-page":"323","article-title":"Tuberous sclerosis complex: review based on new diagnostic criteria","volume":"93","author":"Portocarrero LKL","year":"2018","unstructured":"Portocarrero LKL, Quental KN, Samorano LP, de Oliveira ZNP, Rivitti-Machado MC da M. Tuberous sclerosis complex: review based on new diagnostic criteria. An Bras Dermatol. 2018;93(3):323\u2013331.29924239"},{"issue":"11","key":"b10","series-title":"PLoS Genet","first-page":"e1005637","article-title":"Mosaic and intronic mutations in TSC1\/TSC2 explain the majority of TSC patients with no mutation identified by conventional testing","volume":"11","author":"Tyburczy ME","year":"2015","unstructured":"Tyburczy ME, Dies KA, Glass J,  Mosaic and intronic mutations in TSC1\/TSC2 explain the majority of TSC patients with no mutation identified by conventional testing. PLoS Genet. 2015;11(11):e1005637.26540169"},{"issue":"6","key":"b11","series-title":"Eur J Hum Genet","first-page":"731","article-title":"Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype\u2013phenotype correlations and comparison of diagnostic DNA techniques in tuberous sclerosis complex","volume":"13","author":"Sancak O","year":"2005","unstructured":"Sancak O, Nellist M, Goedbloed M,  Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype\u2013phenotype correlations and comparison of diagnostic DNA techniques in tuberous sclerosis complex. Eur J Hum Genet. 2005;13(6):731\u2013741."},{"key":"b12","series-title":"Pediatr Neurol","first-page":"50","article-title":"Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations","volume":"123","author":"Northrup H","year":"2021","unstructured":"Northrup H, Aronow ME, Bebin EM,  Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations. Pediatr Neurol. 2021;123:50\u201366.34399110"},{"issue":"6","key":"b13","series-title":"Eur J Neurol","first-page":"691","article-title":"Prevalence of subependymal giant cell tumors in patients with tuberous sclerosis and a review of the literature","volume":"16","author":"Adriaensen MEAPM","year":"2009","unstructured":"Adriaensen MEAPM, Schaefer-Prokop CM, Stijnen T, Duyndam DAC, Zonnenberg BA, Prokop M. Prevalence of subependymal giant cell tumors in patients with tuberous sclerosis and a review of the literature. Eur J Neurol. 2009;16(6):691\u2013696."},{"issue":"6","key":"b14","series-title":"Neurosurgery","first-page":"864","article-title":"Subependymal giant cell astrocytoma: a clinical, pathological, and flow cytometric study","volume":"28","author":"Shepherd CW","year":"1991","unstructured":"Shepherd CW, Scheithauer BW, Gomez MR, Altermatt HJ, Katzmann JA. Subependymal giant cell astrocytoma: a clinical, pathological, and flow cytometric study. Neurosurgery. 1991;28(6): 864\u2013868.2067610"},{"issue":"4","key":"b15","series-title":"J Mol Diagn","first-page":"544","article-title":"A case of solitary subependymal giant cell astrocytoma: two somatic hits of TSC2 in the tumor, without evidence of somatic mosaicism","volume":"7","author":"Ichikawa T","year":"2005","unstructured":"Ichikawa T, Wakisaka A, Daido S,  A case of solitary subependymal giant cell astrocytoma: two somatic hits of TSC2 in the tumor, without evidence of somatic mosaicism. J Mol Diagn. 2005; 7(4):544\u2013549.16237225"},{"issue":"2","key":"b16","series-title":"J Neurosurg Pediatr","first-page":"134","article-title":"Subependymal giant cell astrocytoma in the absence of tuberous sclerosis complex: case report","volume":"16","author":"Beaumont TL","year":"2015","unstructured":"Beaumont TL, Godzik J, Dahiya S, Smyth MD. Subependymal giant cell astrocytoma in the absence of tuberous sclerosis complex: case report. J Neurosurg Pediatr. 2015;16(2):134\u2013137.25978531"},{"key":"b17","series-title":"Clin Neurol Neurosurg","first-page":"177","article-title":"Subependymal giant cell astrocytoma in a genetically negative tuberous sclerosis complex adult: case report","volume":"150","author":"Konakondla S","year":"2016","unstructured":"Konakondla S, Jayarao M, Skrade J, Giannini C, Workman MJ, Morgan CJ. Subependymal giant cell astrocytoma in a genetically negative tuberous sclerosis complex adult: case report. Clin Neurol Neurosurg. 2016;150:177\u2013180."},{"issue":"4","key":"b18","series-title":"Childs Nerv Syst","first-page":"1381","article-title":"A case of subependymal giant cell astrocytoma without tuberous sclerosis complex and review of the literature","volume":"37","author":"O\u2019Rawe M","year":"2021","unstructured":"O\u2019Rawe M, Chandran AS, Joshi S, Simonin A, Dyke JM, Lee S. A case of subependymal giant cell astrocytoma without tuberous sclerosis complex and review of the literature. Childs Nerv Syst. 2021; 37(4):1381\u20131385.32808065"},{"issue":"Pt A","key":"b19","series-title":"J Clin Neurosci","first-page":"26","article-title":"Solitary subependymal giant cell astrocytoma: case report and review of the literature","volume":"82","author":"Corlette L","year":"2020","unstructured":"Corlette L, Reid A, Roberts-Thomson S, Christie M, Gaillard F. Solitary subependymal giant cell astrocytoma: case report and review of the literature. J Clin Neurosci. 2020;82(Pt A):26\u201328.33317733"},{"issue":"4","key":"b1","series-title":"Childs Nerv Syst","first-page":"232","article-title":"Subependymal giant cell astrocytoma in children with tuberous sclerosis","volume":"19","author":"Cuccia V","year":"2003","unstructured":"Cuccia V, Zuccaro G, Sosa F, Monges J, Lubienieky F, Taratuto AL. Subependymal giant cell astrocytoma in children with tuberous sclerosis. Childs Nerv Syst. 2003;19(4):232\u2013243.12715190"},{"issue":"2","key":"b2","series-title":"J Clin Neurosci","first-page":"137","article-title":"Tumours around the foramen of Monro: clinical and neuroimaging features and their differential diagnosis","volume":"9","author":"Nishio S","year":"2002","unstructured":"Nishio S, Morioka T, Suzuki S, Fukui M. Tumours around the foramen of Monro: clinical and neuroimaging features and their differential diagnosis. J Clin Neurosci. 2002;9(2):137\u2013141.11922700"},{"issue":"1","key":"b3","series-title":"Eur J Radiol","first-page":"55","article-title":"Solitary subependymal giant cell astrocytoma: case report","volume":"33","author":"Kashiwagi N","year":"2000","unstructured":"Kashiwagi N, Yoshihara W, Shimada N,  Solitary subependymal giant cell astrocytoma: case report. Eur J Radiol. 2000;33(1):55\u201358.10674791"},{"issue":"3","key":"b4","series-title":"AJNR Am J Neuroradiol","first-page":"567","article-title":"Lateral ventricular neoplasms of the brain: differential diagnosis based on clinical, CT, and MR findings","volume":"11","author":"Jelinek J","year":"1990","unstructured":"Jelinek J, Smirniotopoulos JG, Parisi JE, Kanzer M. Lateral ventricular neoplasms of the brain: differential diagnosis based on clinical, CT, and MR findings. AJNR Am J Neuroradiol. 1990;11(3):567\u2013574."},{"issue":"4","key":"b5","series-title":"Pathol Oncol Res","first-page":"219","article-title":"Subependymal giant cell astrocytoma\u2014a clinicopathological study of 23 cases with special emphasis on histogenesis","volume":"10","author":"Sharma MC","year":"2004","unstructured":"Sharma MC, Ralte AM, Gaekwad S, Santosh V, Shankar SK, Sarkar C. Subependymal giant cell astrocytoma\u2014a clinicopathological study of 23 cases with special emphasis on histogenesis. Pathol Oncol Res. 2004;10(4):219\u2013224.15619643"},{"issue":"2","key":"b6","series-title":"An Bras Dermatol","first-page":"184","article-title":"Tuberous sclerosis complex","volume":"87","author":"Rodrigues DA","year":"2012","unstructured":"Rodrigues DA, Gomes CM, Costa IMC. Tuberous sclerosis complex. An Bras Dermatol. 2012;87(2):184\u2013196.22570021"},{"issue":"1","key":"b7","series-title":"Radiol Case Rep","first-page":"180","article-title":"A solitary extraventricular subependymal giant cell astrocytoma in the absence of tuberous sclerosis","volume":"16","author":"Tompe AP","year":"2020","unstructured":"Tompe AP, Sargar KM, Kazmi SAJ, Shimony N. A solitary extraventricular subependymal giant cell astrocytoma in the absence of tuberous sclerosis. Radiol Case Rep. 2020;16(1):180\u2013184.33250950"},{"issue":"4","key":"b8","series-title":"Pediatr Ann","first-page":"e166","article-title":"Tuberous sclerosis complex: a review","volume":"46","author":"Randle SC","year":"2017","unstructured":"Randle SC. Tuberous sclerosis complex: a review. Pediatr Ann. 2017;46(4):e166\u2013e171.28414398"},{"issue":"3","key":"b9","series-title":"An Bras Dermatol","first-page":"323","article-title":"Tuberous sclerosis complex: review based on new diagnostic criteria","volume":"93","author":"Portocarrero LKL","year":"2018","unstructured":"Portocarrero LKL, Quental KN, Samorano LP, de Oliveira ZNP, Rivitti-Machado MC da M. Tuberous sclerosis complex: review based on new diagnostic criteria. An Bras Dermatol. 2018;93(3):323\u2013331.29924239"},{"issue":"11","key":"b10","series-title":"PLoS Genet","first-page":"e1005637","article-title":"Mosaic and intronic mutations in TSC1\/TSC2 explain the majority of TSC patients with no mutation identified by conventional testing","volume":"11","author":"Tyburczy ME","year":"2015","unstructured":"Tyburczy ME, Dies KA, Glass J,  Mosaic and intronic mutations in TSC1\/TSC2 explain the majority of TSC patients with no mutation identified by conventional testing. PLoS Genet. 2015;11(11):e1005637.26540169"},{"issue":"6","key":"b11","series-title":"Eur J Hum Genet","first-page":"731","article-title":"Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype\u2013phenotype correlations and comparison of diagnostic DNA techniques in tuberous sclerosis complex","volume":"13","author":"Sancak O","year":"2005","unstructured":"Sancak O, Nellist M, Goedbloed M,  Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype\u2013phenotype correlations and comparison of diagnostic DNA techniques in tuberous sclerosis complex. Eur J Hum Genet. 2005;13(6):731\u2013741."},{"key":"b12","series-title":"Pediatr Neurol","first-page":"50","article-title":"Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations","volume":"123","author":"Northrup H","year":"2021","unstructured":"Northrup H, Aronow ME, Bebin EM,  Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations. Pediatr Neurol. 2021;123:50\u201366.34399110"},{"issue":"6","key":"b13","series-title":"Eur J Neurol","first-page":"691","article-title":"Prevalence of subependymal giant cell tumors in patients with tuberous sclerosis and a review of the literature","volume":"16","author":"Adriaensen MEAPM","year":"2009","unstructured":"Adriaensen MEAPM, Schaefer-Prokop CM, Stijnen T, Duyndam DAC, Zonnenberg BA, Prokop M. Prevalence of subependymal giant cell tumors in patients with tuberous sclerosis and a review of the literature. Eur J Neurol. 2009;16(6):691\u2013696."},{"issue":"6","key":"b14","series-title":"Neurosurgery","first-page":"864","article-title":"Subependymal giant cell astrocytoma: a clinical, pathological, and flow cytometric study","volume":"28","author":"Shepherd CW","year":"1991","unstructured":"Shepherd CW, Scheithauer BW, Gomez MR, Altermatt HJ, Katzmann JA. Subependymal giant cell astrocytoma: a clinical, pathological, and flow cytometric study. Neurosurgery. 1991;28(6): 864\u2013868.2067610"},{"issue":"4","key":"b15","series-title":"J Mol Diagn","first-page":"544","article-title":"A case of solitary subependymal giant cell astrocytoma: two somatic hits of TSC2 in the tumor, without evidence of somatic mosaicism","volume":"7","author":"Ichikawa T","year":"2005","unstructured":"Ichikawa T, Wakisaka A, Daido S,  A case of solitary subependymal giant cell astrocytoma: two somatic hits of TSC2 in the tumor, without evidence of somatic mosaicism. J Mol Diagn. 2005; 7(4):544\u2013549.16237225"},{"issue":"2","key":"b16","series-title":"J Neurosurg Pediatr","first-page":"134","article-title":"Subependymal giant cell astrocytoma in the absence of tuberous sclerosis complex: case report","volume":"16","author":"Beaumont TL","year":"2015","unstructured":"Beaumont TL, Godzik J, Dahiya S, Smyth MD. Subependymal giant cell astrocytoma in the absence of tuberous sclerosis complex: case report. J Neurosurg Pediatr. 2015;16(2):134\u2013137.25978531"},{"key":"b17","series-title":"Clin Neurol Neurosurg","first-page":"177","article-title":"Subependymal giant cell astrocytoma in a genetically negative tuberous sclerosis complex adult: case report","volume":"150","author":"Konakondla S","year":"2016","unstructured":"Konakondla S, Jayarao M, Skrade J, Giannini C, Workman MJ, Morgan CJ. Subependymal giant cell astrocytoma in a genetically negative tuberous sclerosis complex adult: case report. Clin Neurol Neurosurg. 2016;150:177\u2013180."},{"issue":"4","key":"b18","series-title":"Childs Nerv Syst","first-page":"1381","article-title":"A case of subependymal giant cell astrocytoma without tuberous sclerosis complex and review of the literature","volume":"37","author":"O\u2019Rawe M","year":"2021","unstructured":"O\u2019Rawe M, Chandran AS, Joshi S, Simonin A, Dyke JM, Lee S. A case of subependymal giant cell astrocytoma without tuberous sclerosis complex and review of the literature. Childs Nerv Syst. 2021; 37(4):1381\u20131385.32808065"},{"issue":"Pt A","key":"b19","series-title":"J Clin Neurosci","first-page":"26","article-title":"Solitary subependymal giant cell astrocytoma: case report and review of the literature","volume":"82","author":"Corlette L","year":"2020","unstructured":"Corlette L, Reid A, Roberts-Thomson S, Christie M, Gaillard F. Solitary subependymal giant cell astrocytoma: case report and review of the literature. J Clin Neurosci. 2020;82(Pt A):26\u201328.33317733"}],"container-title":["Journal of Neurosurgery: Case Lessons"],"original-title":[],"link":[{"URL":"https:\/\/thejns.org\/view\/journals\/j-neurosurg-case-lessons\/5\/25\/article-CASE23192.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/thejns.org\/downloadpdf\/journals\/j-neurosurg-case-lessons\/5\/25\/article-CASE23192.xml","content-type":"text\/html","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/thejns.org\/downloadpdf\/journals\/j-neurosurg-case-lessons\/5\/25\/article-CASE23192.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,5]],"date-time":"2026-02-05T14:31:29Z","timestamp":1770301889000},"score":1,"resource":{"primary":{"URL":"https:\/\/thejns.org\/view\/journals\/j-neurosurg-case-lessons\/5\/25\/article-CASE23192.xml"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,6,19]]},"references-count":38,"journal-issue":{"issue":"25"},"URL":"https:\/\/doi.org\/10.3171\/case23192","relation":{},"ISSN":["2694-1902"],"issn-type":[{"value":"2694-1902","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,6,19]]}}}