U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Central Nervous System Rhabdomyoma

MedGen UID:
277598
•Concept ID:
C1335780
•
Neoplastic Process
Synonyms: Rhabdomyoma of Central Nervous System; Rhabdomyoma of the Central Nervous System

Definition

A benign mesenchymal neoplasm arising from the central nervous system. It consists of mature skeletal muscle tissue. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCentral Nervous System Rhabdomyoma

Professional guidelines

PubMed

Paradigm shift in the treatment of tuberous sclerosis: Effectiveness of everolimus.
Previtali R, Prontera G, Alfei E, Nespoli L, Masnada S, Veggiotti P, Mannarino S
Pharmacol Res 2023 Sep;195:106884. Epub 2023 Aug 6 doi: 10.1016/j.phrs.2023.106884. PMID: 37549757
Diagnosis and Treatment of Tuberous Sclerosis Manifestations in Children: A Multicenter Study.
Flotats-Bastardas M, Ebrahimi-Fakhari D, Gortner L, Poryo M, Zemlin M, Macaya-Ruiz A, Meyer S
Neuropediatrics 2018 Jun;49(3):193-199. Epub 2018 Mar 20 doi: 10.1055/s-0038-1637738. PMID: 29558773
Prenatal and Postnatal Diagnosis of Rhabdomyomas and Tuberous Sclerosis Complex by Ultrafast and Standard MRI.
Zhou Y, Dong SZ, Zhong YM, Sun AM
Indian J Pediatr 2018 Sep;85(9):729-737. Epub 2018 Jan 9 doi: 10.1007/s12098-017-2592-x. PMID: 29313307

Recent clinical studies

Etiology

Central nervous system manifestations of tuberous sclerosis complex: A single centre experience in Qatar.
Aden M, Fawzi MO, Prosser D, Ather M, Raja M, Ederies MA, Al-Kharazi K, Maaz AU
Saudi Med J 2024 Nov;45(11):1245-1252. doi: 10.15537/smj.2024.45.11.20240444. PMID: 39510572Free PMC Article
Clinical outcome of prenatally suspected cardiac rhabdomyomas of the fetus.
Altmann J, Kiver V, Henrich W, Weichert A
J Perinat Med 2019 Dec 18;48(1):74-81. doi: 10.1515/jpm-2019-0246. PMID: 31811808
Prenatal and Postnatal Diagnosis of Rhabdomyomas and Tuberous Sclerosis Complex by Ultrafast and Standard MRI.
Zhou Y, Dong SZ, Zhong YM, Sun AM
Indian J Pediatr 2018 Sep;85(9):729-737. Epub 2018 Jan 9 doi: 10.1007/s12098-017-2592-x. PMID: 29313307
Perinatal (fetal and neonatal) tuberous sclerosis: a review.
Isaacs H
Am J Perinatol 2009 Nov;26(10):755-60. Epub 2009 May 18 doi: 10.1055/s-0029-1223267. PMID: 19452429
Prenatal detection of cerebral lesions in a fetus with tuberous sclerosis.
Sgro M, Barozzino T, Toi A, Johnson J, Sermer M, Chitayat D
Ultrasound Obstet Gynecol 1999 Nov;14(5):356-9. doi: 10.1046/j.1469-0705.1999.14050356.x. PMID: 10623997

Diagnosis

Central nervous system manifestations of tuberous sclerosis complex: A single centre experience in Qatar.
Aden M, Fawzi MO, Prosser D, Ather M, Raja M, Ederies MA, Al-Kharazi K, Maaz AU
Saudi Med J 2024 Nov;45(11):1245-1252. doi: 10.15537/smj.2024.45.11.20240444. PMID: 39510572Free PMC Article
Tuberous sclerosis: a review of the past, present, and future.
Uysal SP, Şahin M
Turk J Med Sci 2020 Nov 3;50(SI-2):1665-1676. doi: 10.3906/sag-2002-133. PMID: 32222129Free PMC Article
Prenatal and Postnatal Diagnosis of Rhabdomyomas and Tuberous Sclerosis Complex by Ultrafast and Standard MRI.
Zhou Y, Dong SZ, Zhong YM, Sun AM
Indian J Pediatr 2018 Sep;85(9):729-737. Epub 2018 Jan 9 doi: 10.1007/s12098-017-2592-x. PMID: 29313307
Tuberous sclerosis complex.
Islam MP, Roach ES
Handb Clin Neurol 2015;132:97-109. doi: 10.1016/B978-0-444-62702-5.00006-8. PMID: 26564073
Nevoid basal-cell carcinoma syndrome.
Gorlin RJ
Medicine (Baltimore) 1987 Mar;66(2):98-113. doi: 10.1097/00005792-198703000-00002. PMID: 3547011

Therapy

Paradigm shift in the treatment of tuberous sclerosis: Effectiveness of everolimus.
Previtali R, Prontera G, Alfei E, Nespoli L, Masnada S, Veggiotti P, Mannarino S
Pharmacol Res 2023 Sep;195:106884. Epub 2023 Aug 6 doi: 10.1016/j.phrs.2023.106884. PMID: 37549757
Tuberous sclerosis with two unusual findings: cutaneous rhabdomyoma and chronic myelogenous leukaemia.
Bardawil T, El Jamal L, Abbas O, Kurban M
Clin Exp Dermatol 2020 Aug;45(6):799-801. Epub 2020 Feb 25 doi: 10.1111/ced.14187. PMID: 32097503
Incidence of tuberous sclerosis and age at first diagnosis: new data and emerging trends from a national, prospective surveillance study.
Ebrahimi-Fakhari D, Mann LL, Poryo M, Graf N, von Kries R, Heinrich B, Ebrahimi-Fakhari D, Flotats-Bastardas M, Gortner L, Zemlin M, Meyer S
Orphanet J Rare Dis 2018 Jul 17;13(1):117. doi: 10.1186/s13023-018-0870-y. PMID: 30016967Free PMC Article
Tuberous sclerosis: histological analysis with confocal laser scanning microscope of gingival angiofibromatosis.
Favia G, Tempesta A, Limongelli L, Maiorano E
Pathologica 2015 Sep-Dec;107(3-4):197-200. PMID: 26946876
Prenatal diagnosis of cerebral lesions in Tuberous sclerosis complex (TSC). Case report and review of the literature.
Wortmann SB, Reimer A, Creemers JW, Mullaart RA
Eur J Paediatr Neurol 2008 Mar;12(2):123-6. Epub 2007 Aug 2 doi: 10.1016/j.ejpn.2007.06.006. PMID: 17681840

Prognosis

Clinical outcome of prenatally suspected cardiac rhabdomyomas of the fetus.
Altmann J, Kiver V, Henrich W, Weichert A
J Perinat Med 2019 Dec 18;48(1):74-81. doi: 10.1515/jpm-2019-0246. PMID: 31811808
TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complex.
Farach LS, Gibson WT, Sparagana SP, Nellist M, Stumpel CT, Hietala M, Friedman E, Pearson DA, Creighton SP, Wagemans A, Segel R, Ben-Shalom E, Au KS, Northrup H
Am J Med Genet A 2017 Mar;173(3):771-775. doi: 10.1002/ajmg.a.38083. PMID: 28211972
Perinatal (fetal and neonatal) tuberous sclerosis: a review.
Isaacs H
Am J Perinatol 2009 Nov;26(10):755-60. Epub 2009 May 18 doi: 10.1055/s-0029-1223267. PMID: 19452429
Fetal cardiac rhabdomyoma with maternal tuberous sclerosis complicating pregnancy.
Gupta N, Singh N, Sarangi S, Dalmia S, Mittal S
Arch Gynecol Obstet 2008 Aug;278(2):169-70. Epub 2008 Jan 31 doi: 10.1007/s00404-008-0559-x. PMID: 18236061
Maternal and fetal tuberous sclerosis complicating pregnancy: a case report and overview of the literature.
King JA, Stamilio DM
Am J Perinatol 2005 Feb;22(2):103-8. doi: 10.1055/s-2005-861572. PMID: 15731990

Clinical prediction guides

Central nervous system manifestations of tuberous sclerosis complex: A single centre experience in Qatar.
Aden M, Fawzi MO, Prosser D, Ather M, Raja M, Ederies MA, Al-Kharazi K, Maaz AU
Saudi Med J 2024 Nov;45(11):1245-1252. doi: 10.15537/smj.2024.45.11.20240444. PMID: 39510572Free PMC Article
Clinical outcome of prenatally suspected cardiac rhabdomyomas of the fetus.
Altmann J, Kiver V, Henrich W, Weichert A
J Perinat Med 2019 Dec 18;48(1):74-81. doi: 10.1515/jpm-2019-0246. PMID: 31811808
Wide spectrum of clinical manifestations in children with tuberous sclerosis complex--follow-up of 20 children.
Mettin RR, Merkenschlager A, Bernhard MK, Elix H, Hirsch W, Kiess W, Syrbe S
Brain Dev 2014 Apr;36(4):306-14. Epub 2013 Jun 14 doi: 10.1016/j.braindev.2013.05.006. PMID: 23751858
Fetal rhabdomyoma: prenatal diagnosis, clinical outcome, and incidence of associated tuberous sclerosis complex.
Bader RS, Chitayat D, Kelly E, Ryan G, Smallhorn JF, Toi A, Hornberger LK
J Pediatr 2003 Nov;143(5):620-4. doi: 10.1067/S0022-3476(03)00494-3. PMID: 14615733
Nevoid basal-cell carcinoma syndrome.
Gorlin RJ
Medicine (Baltimore) 1987 Mar;66(2):98-113. doi: 10.1097/00005792-198703000-00002. PMID: 3547011

Recent systematic reviews

Maternal and fetal tuberous sclerosis complicating pregnancy: a case report and overview of the literature.
King JA, Stamilio DM
Am J Perinatol 2005 Feb;22(2):103-8. doi: 10.1055/s-2005-861572. PMID: 15731990

Supplemental Content

Table of contents

    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.

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...