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Subependymal nodules

MedGen UID:
369895
•Concept ID:
C1968958
•
Finding
HPO: HP:0009716

Definition

Small nodular masses which originate in the subependymal region of the lateral ventricles and protrude into the ventricular cavity. They may represent subependymal hamartomas of tuberous sclerosis. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSubependymal nodules

Conditions with this feature

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, TSC-associated neuropsychiatric disorder [TAND]); kidneys (benign renal angiomyolipomas, epithelial cysts, oncocytoma, renal cell carcinoma); heart (rhabdomyomas, arrhythmias); and lungs (lymphangioleiomyomatosis [LAM], multifocal micronodular pneumonocyte hyperplasia). Central nervous system-related problems (including TAND) are the leading cause of morbidity, whereas kidney disease is the leading cause of mortality.
See: Condition Record
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, TSC-associated neuropsychiatric disorder [TAND]); kidneys (benign renal angiomyolipomas, epithelial cysts, oncocytoma, renal cell carcinoma); heart (rhabdomyomas, arrhythmias); and lungs (lymphangioleiomyomatosis [LAM], multifocal micronodular pneumonocyte hyperplasia). Central nervous system-related problems (including TAND) are the leading cause of morbidity, whereas kidney disease is the leading cause of mortality.
See: Condition Record
Tuberous sclerosis 1
Tuberous sclerosis 2

Professional guidelines

PubMed

Early Diagnosis of Tuberous Sclerosis Complex: Prenatal Diagnosis.
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
Diagnosis and genotype-phenotype correlation in patients with PKD1/TSC2 contiguous gene deletion syndrome.
Shang S, Mei Y, Wang T, Zheng X, Chen K, Xiong S, Dong Y, Chang Y, Wu X, Kong X, Tan M, Wu L, Zhang Y, Xiao Y, Xie Y, Cai G, Chen X, Li Q
Clin Nephrol 2022 Jun;97(6):328-338. doi: 10.5414/CN110476. PMID: 35142283
Recommendations for the radiological diagnosis and follow-up of neuropathological abnormalities associated with tuberous sclerosis complex.
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

Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature.
Milon V, Malinge MC, Blanluet M, Tessarech M, Battault C, Prestwich S, Vary B, Gueracher P, Legoff L, Barth M, Houdayer C, Guichet A, Rousseau A, Bonneau D, Procaccio V, Bris C, Colin E
Eur J Hum Genet 2024 Dec;32(12):1590-1598. Epub 2024 May 28 doi: 10.1038/s41431-024-01631-w. PMID: 38806662Free PMC Article
Tuberous Sclerosis: Current Update.
Wang MX, Segaran N, Bhalla S, Pickhardt PJ, Lubner MG, Katabathina VS, Ganeshan D
Radiographics 2021 Nov-Dec;41(7):1992-2010. Epub 2021 Sep 17 doi: 10.1148/rg.2021210103. PMID: 34534018
Arachnoid cysts in tuberous sclerosis complex.
Boronat S, Caruso P, Auladell M, Van Eeghen A, Thiele EA
Brain Dev 2014 Oct;36(9):801-6. Epub 2013 Dec 8 doi: 10.1016/j.braindev.2013.11.003. PMID: 24325802
Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.
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
MR imaging of intracranial tuberous sclerosis.
McMurdo SK Jr, Moore SG, Brant-Zawadzki M, Berg BO, Koch T, Newton TH, Edwards MS
AJR Am J Roentgenol 1987 Apr;148(4):791-6. doi: 10.2214/ajr.148.4.791. PMID: 3493666

Diagnosis

Tuberous Sclerosis: Current Update.
Wang MX, Segaran N, Bhalla S, Pickhardt PJ, Lubner MG, Katabathina VS, Ganeshan D
Radiographics 2021 Nov-Dec;41(7):1992-2010. Epub 2021 Sep 17 doi: 10.1148/rg.2021210103. PMID: 34534018
Phakomatoses.
Becker B, Strowd RE 3rd
Dermatol Clin 2019 Oct;37(4):583-606. doi: 10.1016/j.det.2019.05.015. PMID: 31466597
Diagnosis of tuberous sclerosis complex in the fetus.
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
Less common manifestations in TSC.
Boronat S, Barber I
Am J Med Genet C Semin Med Genet 2018 Sep;178(3):348-354. Epub 2018 Aug 29 doi: 10.1002/ajmg.c.31648. PMID: 30156054
MR imaging of tuberous sclerosis: pathogenesis of this phakomatosis, use of gadopentetate dimeglumine, and literature review.
Braffman BH, Bilaniuk LT, Naidich TP, Altman NR, Post MJ, Quencer RM, Zimmerman RA, Brody BA
Radiology 1992 Apr;183(1):227-38. doi: 10.1148/radiology.183.1.1549677. PMID: 1549677

Therapy

Hereditary Renal Tumor Syndromes and the Use of mTOR Inhibitors.
Rodríguez-Olivares JL, González-Sánchez HR, Beas-Lozano EL, Arteaga-Vázquez J, Elaine T Lam Md, Bourlon MT
Oncology (Williston Park) 2024 Oct 17;38(10):376-380. doi: 10.46883/2024.25921027. PMID: 39475505
Brachial and subclavian arteries aneurysms due to tuberous sclerosis complex mechanisms - case report and literature review.
Craiu DC, Bastian AE, Zurac SA, Băilă SL, Croitoru M, Craiu M, Diaconu R, Vinţan MA, Bârcă DG
Rom J Morphol Embryol 2022 Jan-Mar;63(1):181-189. doi: 10.47162/RJME.63.1.19. PMID: 36074682Free PMC Article
Prediction of tuberous sclerosis-associated neurocognitive disorders and seizures via machine learning of structural magnetic resonance imaging.
Shrot S, Lawson P, Shlomovitz O, Hoffmann C, Shrot A, Ben-Zeev B, Tzadok M
Neuroradiology 2022 Mar;64(3):611-620. Epub 2021 Sep 16 doi: 10.1007/s00234-021-02789-6. PMID: 34532765
Fetal cardiac rhabdomyomas treated with maternal sirolimus.
Pluym ID, Sklansky M, Wu JY, Afshar Y, Holliman K, Devore GR, Walden A, Platt LD, Krakow D
Prenat Diagn 2020 Feb;40(3):358-364. Epub 2020 Jan 2 doi: 10.1002/pd.5613. PMID: 31742705
Lymphangioleiomyomatosis (LAM) presenting as recurrent pneumothorax in an infant with tuberous sclerosis: treated successfully with sirolimus.
Takia L, Jat KR, Mandal A, Kabra SK
BMJ Case Rep 2018 Nov 8;2018 doi: 10.1136/bcr-2018-226244. PMID: 30413450Free PMC Article

Prognosis

Prediction of epileptogenicity in patients with tuberous sclerosis complex using multimodal cerebral MRI.
Li W, Sha L, Zhu J, Long F, Chen L
Eur J Radiol 2024 Dec;181:111800. Epub 2024 Oct 22 doi: 10.1016/j.ejrad.2024.111800. PMID: 39461057
Diagnosis and genotype-phenotype correlation in patients with PKD1/TSC2 contiguous gene deletion syndrome.
Shang S, Mei Y, Wang T, Zheng X, Chen K, Xiong S, Dong Y, Chang Y, Wu X, Kong X, Tan M, Wu L, Zhang Y, Xiao Y, Xie Y, Cai G, Chen X, Li Q
Clin Nephrol 2022 Jun;97(6):328-338. doi: 10.5414/CN110476. PMID: 35142283
Prediction of tuberous sclerosis-associated neurocognitive disorders and seizures via machine learning of structural magnetic resonance imaging.
Shrot S, Lawson P, Shlomovitz O, Hoffmann C, Shrot A, Ben-Zeev B, Tzadok M
Neuroradiology 2022 Mar;64(3):611-620. Epub 2021 Sep 16 doi: 10.1007/s00234-021-02789-6. PMID: 34532765
Epilepsy in adult patients with tuberous sclerosis complex.
Vignoli A, La Briola F, Turner K, Peron A, Vannicola C, Chiesa V, Zambrelli E, Bruschi F, Viganò I, Canevini MP
Acta Neurol Scand 2021 Jul;144(1):29-40. Epub 2021 Mar 22 doi: 10.1111/ane.13416. PMID: 33748956Free PMC Article
Gelastic seizure with tectal tumor, lobar holoprosencephaly, and subependymal nodules: clinical report.
Akman CI, Schubert R, Duran M, Loh J
J Child Neurol 2002 Feb;17(2):152-4. doi: 10.1177/088307380201700215. PMID: 11952080

Clinical prediction guides

Exploring the intersection of tuberous sclerosis and precocious puberty unveiled by hematocolpos.
Singh R, Peer S, Wander A
Neurol Sci 2024 Aug;45(8):4091-4093. Epub 2024 Apr 19 doi: 10.1007/s10072-024-07523-7. PMID: 38637341
A single-center observational study on long-term neurodevelopmental outcomes in children with tuberous sclerosis complex.
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
Genotype/phenotype correlation in 123 Chinese patients with Tuberous Sclerosis Complex.
Ng SY, Luk HM, Hau EW, Cheng SS, Yu KP, Ho S, Mok MT, Lo IF
Eur J Med Genet 2022 Oct;65(10):104573. Epub 2022 Jul 31 doi: 10.1016/j.ejmg.2022.104573. PMID: 35918040
A circuitry and biochemical basis for tuberous sclerosis symptoms: from epilepsy to neurocognitive deficits.
Feliciano DM, Lin TV, Hartman NW, Bartley CM, Kubera C, Hsieh L, Lafourcade C, O'Keefe RA, Bordey A
Int J Dev Neurosci 2013 Nov;31(7):667-78. Epub 2013 Feb 26 doi: 10.1016/j.ijdevneu.2013.02.008. PMID: 23485365Free PMC Article
Tuberous sclerosis complex: genetics to pathogenesis.
Narayanan V
Pediatr Neurol 2003 Nov;29(5):404-9. doi: 10.1016/j.pediatrneurol.2003.09.002. PMID: 14684235

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