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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

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
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
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

Malinger G, Prabhu A, Maroto González A, Brusilov M, Kidron D, Amster R, Birnbaum R, Krajden Haratz K
Ultrasound Obstet Gynecol 2023 Sep;62(3):391-397. doi: 10.1002/uog.26213. PMID: 37021742
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
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
Isaacs H
Am J Perinatol 2009 Nov;26(10):755-60. Epub 2009 May 18 doi: 10.1055/s-0029-1223267. PMID: 19452429
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

Diagnosis

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
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
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
Islam MP, Roach ES
Handb Clin Neurol 2015;132:97-109. doi: 10.1016/B978-0-444-62702-5.00006-8. PMID: 26564073
Gorlin RJ
Medicine (Baltimore) 1987 Mar;66(2):98-113. doi: 10.1097/00005792-198703000-00002. PMID: 3547011

Therapy

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
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
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
Favia G, Tempesta A, Limongelli L, Maiorano E
Pathologica 2015 Sep-Dec;107(3-4):197-200. PMID: 26946876
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

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
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
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
Isaacs H
Am J Perinatol 2009 Nov;26(10):755-60. Epub 2009 May 18 doi: 10.1055/s-0029-1223267. PMID: 19452429
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

Clinical prediction guides

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
Jesmanas S, Norvainytė K, Gleiznienė R, Šimoliūnienė R, Endzinienė M
Brain Dev 2018 Mar;40(3):196-204. Epub 2017 Dec 16 doi: 10.1016/j.braindev.2017.11.010. PMID: 29258718
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
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
Gorlin RJ
Medicine (Baltimore) 1987 Mar;66(2):98-113. doi: 10.1097/00005792-198703000-00002. PMID: 3547011

Recent systematic reviews

King JA, Stamilio DM
Am J Perinatol 2005 Feb;22(2):103-8. doi: 10.1055/s-2005-861572. PMID: 15731990

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