U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Cortical tubers

MedGen UID:
369896
Concept ID:
C1968959
Finding
HPO: HP:0009717

Definition

Cortical tubers in the brain are hamartomatous lesions typically located at the gray-white matter interface, commonly in the frontal and parietal lobes. Cortical tubers are composed of abnormal glial and neural cells, and the size, number, and location vary among patients. [from HPO]

Conditions with this feature

Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
MedGen UID:
325000
Concept ID:
C1838327
Disease or Syndrome
Disease with characteristics of early-onset severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system). A contiguous gene syndrome caused by a large deletion involving both the PKD1 and TSC2 genes (16p13.3). Transmission is autosomal dominant.
Tuberous sclerosis 1
MedGen UID:
344288
Concept ID:
C1854465
Disease or Syndrome
Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic plaques, ungual fibromas); brain (subependymal nodules, cortical tubers, and subependymal giant cell astrocytomas [SEGAs], seizures, intellectual disability / developmental delay, psychiatric illness); kidney (angiomyolipomas, cysts, renal cell carcinomas); heart (rhabdomyomas, arrhythmias); and lungs (lymphangioleiomyomatosis [LAM], multifocal micronodular pneumonocyte hyperplasia). Central nervous system tumors are the leading cause of morbidity and mortality; renal disease is the second leading cause of early death.
Tuberous sclerosis 2
MedGen UID:
348170
Concept ID:
C1860707
Disease or Syndrome
Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic plaques, ungual fibromas); brain (subependymal nodules, cortical tubers, and subependymal giant cell astrocytomas [SEGAs], seizures, intellectual disability / developmental delay, psychiatric illness); kidney (angiomyolipomas, cysts, renal cell carcinomas); heart (rhabdomyomas, arrhythmias); and lungs (lymphangioleiomyomatosis [LAM], multifocal micronodular pneumonocyte hyperplasia). Central nervous system tumors are the leading cause of morbidity and mortality; renal disease is the second leading cause of early death.

Professional guidelines

PubMed

Bekiesinska-Figatowska M, Sobieraj P, Pasieczna M, Szymkiewicz-Dangel J
AJNR Am J Neuroradiol 2023 Sep;44(9):1070-1076. Epub 2023 Aug 3 doi: 10.3174/ajnr.A7952. PMID: 37536734Free PMC Article
Northrup H, Aronow ME, Bebin EM, Bissler J, Darling TN, de Vries PJ, Frost MD, Fuchs Z, Gosnell ES, Gupta N, Jansen AC, Jóźwiak S, Kingswood JC, Knilans TK, McCormack FX, Pounders A, Roberds SL, Rodriguez-Buritica DF, Roth J, Sampson JR, Sparagana S, Thiele EA, Weiner HL, Wheless JW, Towbin AJ, Krueger DA; International Tuberous Sclerosis Complex Consensus Group
Pediatr Neurol 2021 Oct;123:50-66. Epub 2021 Jul 24 doi: 10.1016/j.pediatrneurol.2021.07.011. PMID: 34399110
Rovira À, Ruiz-Falcó ML, García-Esparza E, López-Laso E, Macaya A, Málaga I, Vázquez É, Vicente J
J Neurooncol 2014 Jun;118(2):205-223. Epub 2014 Apr 27 doi: 10.1007/s11060-014-1429-y. PMID: 24771286

Recent clinical studies

Etiology

Wang Z, Li Y, He Z, Li S, Huang K, Shi X, Sun X, Ruan R, Cui C, Wang R, Wang L, Lv S, Zhang C, Liu Z, Yang H, Yang X, Liu S
BMC Med 2023 Dec 18;21(1):500. doi: 10.1186/s12916-023-03121-0. PMID: 38110931Free PMC Article
Patniyot I, Qubty W
Curr Pain Headache Rep 2022 Apr;26(4):281-288. Epub 2022 Feb 18 doi: 10.1007/s11916-022-01032-y. PMID: 35179724
Northrup H, Aronow ME, Bebin EM, Bissler J, Darling TN, de Vries PJ, Frost MD, Fuchs Z, Gosnell ES, Gupta N, Jansen AC, Jóźwiak S, Kingswood JC, Knilans TK, McCormack FX, Pounders A, Roberds SL, Rodriguez-Buritica DF, Roth J, Sampson JR, Sparagana S, Thiele EA, Weiner HL, Wheless JW, Towbin AJ, Krueger DA; International Tuberous Sclerosis Complex Consensus Group
Pediatr Neurol 2021 Oct;123:50-66. Epub 2021 Jul 24 doi: 10.1016/j.pediatrneurol.2021.07.011. PMID: 34399110
Aronica E, Crino PB
Neurotherapeutics 2014 Apr;11(2):251-68. doi: 10.1007/s13311-013-0251-0. PMID: 24481729Free PMC Article
Dabora SL, Jozwiak S, Franz DN, Roberts PS, Nieto A, Chung J, Choy YS, Reeve MP, Thiele E, Egelhoff JC, Kasprzyk-Obara J, Domanska-Pakiela D, Kwiatkowski DJ
Am J Hum Genet 2001 Jan;68(1):64-80. Epub 2000 Dec 8 doi: 10.1086/316951. PMID: 11112665Free PMC Article

Diagnosis

Northrup H, Aronow ME, Bebin EM, Bissler J, Darling TN, de Vries PJ, Frost MD, Fuchs Z, Gosnell ES, Gupta N, Jansen AC, Jóźwiak S, Kingswood JC, Knilans TK, McCormack FX, Pounders A, Roberds SL, Rodriguez-Buritica DF, Roth J, Sampson JR, Sparagana S, Thiele EA, Weiner HL, Wheless JW, Towbin AJ, Krueger DA; International Tuberous Sclerosis Complex Consensus Group
Pediatr Neurol 2021 Oct;123:50-66. Epub 2021 Jul 24 doi: 10.1016/j.pediatrneurol.2021.07.011. PMID: 34399110
Becker B, Strowd RE 3rd
Dermatol Clin 2019 Oct;37(4):583-606. doi: 10.1016/j.det.2019.05.015. PMID: 31466597
Dragoumi P, O'Callaghan F, Zafeiriou DI
Eur J Paediatr Neurol 2018 Nov;22(6):1027-1034. Epub 2018 Sep 12 doi: 10.1016/j.ejpn.2018.08.005. PMID: 30279084
Bauer J, Becker AJ, Elyaman W, Peltola J, Rüegg S, Titulaer MJ, Varley JA, Beghi E
Epilepsia 2017 Jul;58 Suppl 3(Suppl Suppl 3):57-68. doi: 10.1111/epi.13784. PMID: 28675562Free PMC Article
Manoukian SB, Kowal DJ
AJR Am J Roentgenol 2015 May;204(5):933-43. doi: 10.2214/AJR.13.12235. PMID: 25905927

Therapy

Schachenhofer J, Gruber VE, Fehrer SV, Haider C, Glatter S, Liszewska E, Höftberger R, Aronica E, Rössler K, Jaworski J, Scholl T, Feucht M
Neuropathol Appl Neurobiol 2024 Apr;50(2):e12974. doi: 10.1111/nan.12974. PMID: 38562027
d'Orio P, Pelliccia V, Biondi D, Scarpa P, Gozzo F, Revay M, Cardinale F, Tassi L, Cossu M
Seizure 2022 Apr;97:8-14. Epub 2022 Feb 27 doi: 10.1016/j.seizure.2022.02.013. PMID: 35247673
Thiele EA
J Child Neurol 2004 Sep;19(9):680-6. doi: 10.1177/08830738040190090801. PMID: 15563014
Romanelli P, Verdecchia M, Rodas R, Seri S, Curatolo P
Pediatr Neurol 2004 Oct;31(4):239-47. doi: 10.1016/j.pediatrneurol.2004.05.012. PMID: 15464634
Curatolo P
Childs Nerv Syst 1996 Sep;12(9):515-21. doi: 10.1007/BF00261603. PMID: 8906365

Prognosis

Wang Z, Li Y, He Z, Li S, Huang K, Shi X, Sun X, Ruan R, Cui C, Wang R, Wang L, Lv S, Zhang C, Liu Z, Yang H, Yang X, Liu S
BMC Med 2023 Dec 18;21(1):500. doi: 10.1186/s12916-023-03121-0. PMID: 38110931Free PMC Article
Park DK, Kim W, Thornburg OS, McBrian DK, McKhann GM, Feldstein NA, Maddocks AB, Gonzalez E, Shen MY, Akman C, Provenzano FA
Epilepsia 2022 Jun;63(6):1530-1541. Epub 2022 Mar 31 doi: 10.1111/epi.17227. PMID: 35301716
Bauer J, Becker AJ, Elyaman W, Peltola J, Rüegg S, Titulaer MJ, Varley JA, Beghi E
Epilepsia 2017 Jul;58 Suppl 3(Suppl Suppl 3):57-68. doi: 10.1111/epi.13784. PMID: 28675562Free PMC Article
Mizuguchi M, Takashima S
Brain Dev 2001 Nov;23(7):508-15. doi: 10.1016/s0387-7604(01)00304-7. PMID: 11701246
Curatolo P, Seri S, Verdecchia M, Bombardieri R
Brain Dev 2001 Nov;23(7):502-7. doi: 10.1016/s0387-7604(01)00300-x. PMID: 11701245

Clinical prediction guides

Wang Z, Li Y, He Z, Li S, Huang K, Shi X, Sun X, Ruan R, Cui C, Wang R, Wang L, Lv S, Zhang C, Liu Z, Yang H, Yang X, Liu S
BMC Med 2023 Dec 18;21(1):500. doi: 10.1186/s12916-023-03121-0. PMID: 38110931Free PMC Article
Mammadova D, Vecko J, Hofmann M, Schüssler SC, Deiters L, Canda A, Wieland AK, Gollwitzer S, Hamer H, Trollmann R
Orphanet J Rare Dis 2023 Nov 9;18(1):349. doi: 10.1186/s13023-023-02959-0. PMID: 37946245Free PMC Article
Gruber V, Scholl T, Samueli S, Gröppel G, Mühlebner A, Hainfellner JA, Feucht M
Clin Neuropathol 2019 Sep/Oct;38(5):210-224. doi: 10.5414/NP301214. PMID: 31347492
Manara R, Brotto D, Bugin S, Pelizza MF, Sartori S, Nosadini M, Azzolini S, Iaconetta G, Parazzini C, Murgia A, Peron A, Canevini P, Labriola F, Vignoli A, Toldo I
Neuroradiology 2018 Aug;60(8):813-820. Epub 2018 Jun 17 doi: 10.1007/s00234-018-2045-x. PMID: 29909560
Bauer J, Becker AJ, Elyaman W, Peltola J, Rüegg S, Titulaer MJ, Varley JA, Beghi E
Epilepsia 2017 Jul;58 Suppl 3(Suppl Suppl 3):57-68. doi: 10.1111/epi.13784. PMID: 28675562Free PMC Article

Recent systematic reviews

Nie JZ, Karras CL, Trybula SJ, Texakalidis P, Alden TD
Neurosurg Focus 2022 May;52(5):E6. doi: 10.3171/2022.2.FOCUS21789. PMID: 35535822
Jansen FE, van Huffelen AC, Algra A, van Nieuwenhuizen O
Epilepsia 2007 Aug;48(8):1477-84. Epub 2007 May 1 doi: 10.1111/j.1528-1167.2007.01117.x. PMID: 17484753

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...