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Striatal necrosis, bilateral, with dystonia

MedGen UID:
325555
Concept ID:
C1838954
Finding
Synonym: STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA
 
OMIM®: 516006

Recent clinical studies

Etiology

Chen PS, Lee NC, Sung CJ, Liu YW, Weng WC, Fan PC, Lee WT, Chien YH, Wu CS, Sung YF, Tsai MC, Lee YC, Hsueh HW, Fan SM, Wu MC, Li H, Chen HY, Lin HI, Ou-Yang CH, Hwuh WL, Lin CH
Mov Disord 2023 Dec;38(12):2217-2229. Epub 2023 Sep 27 doi: 10.1002/mds.29604. PMID: 37752895
Di Lazzaro G, Graziola F, Sancesario A, Insalaco A, Moneta GM, Castelli E, Bertini E, Travaglini L, Stregapede F, Capuano A, Vasco G, Schirinzi T
Parkinsonism Relat Disord 2020 Oct;79:100-104. Epub 2020 Aug 30 doi: 10.1016/j.parkreldis.2020.08.039. PMID: 32911246
Baide-Mairena H, Gaudó P, Marti-Sánchez L, Emperador S, Sánchez-Montanez A, Alonso-Luengo O, Correa M, Grau AM, Ortigoza-Escobar JD, Artuch R, Vázquez E, Del Toro M, Garrido-Pérez N, Ruiz-Pesini E, Montoya J, Bayona-Bafaluy MP, Pérez-Dueñas B
Mol Genet Metab 2019 Mar;126(3):250-258. Epub 2019 Jan 5 doi: 10.1016/j.ymgme.2019.01.001. PMID: 30642748
Karagulle Kendi AT, Krenzel C, Ott FW, Brace JR, Norberg SK, Kieffer SA
AJNR Am J Neuroradiol 2008 Aug;29(7):1276-8. Epub 2008 May 1 doi: 10.3174/ajnr.A1065. PMID: 18451091Free PMC Article
Roig M, Calopa M, Rovira A, Macaya A, Riudor E, Losada M
Pediatr Neurol 1993 Sep-Oct;9(5):349-58. doi: 10.1016/0887-8994(93)90103-j. PMID: 8292209

Diagnosis

van Toorn R, van Niekerk M, Moosa S, Goussard P, Solomons R
BMJ Case Rep 2023 Mar 13;16(3) doi: 10.1136/bcr-2022-252436. PMID: 36914176Free PMC Article
Canavese C, Davico C, Casabianca M, Olivieri C, Mancini S, Migliore G, Versace A, Tocchet A, Vitiello B
Neuropediatrics 2018 Jun;49(3):209-212. Epub 2018 Feb 22 doi: 10.1055/s-0037-1618590. PMID: 29471551
Livingston JH, Lin JP, Dale RC, Gill D, Brogan P, Munnich A, Kurian MA, Gonzalez-Martinez V, De Goede CG, Falconer A, Forte G, Jenkinson EM, Kasher PR, Szynkiewicz M, Rice GI, Crow YJ
J Med Genet 2014 Feb;51(2):76-82. Epub 2013 Nov 21 doi: 10.1136/jmedgenet-2013-102038. PMID: 24262145
Dale RC, Church AJ, Benton S, Surtees RA, Lees A, Thompson EJ, Giovannoni G, Neville BG
Dev Med Child Neurol 2002 Jul;44(7):485-9. doi: 10.1017/s0012162201002390. PMID: 12162386
Roig M, Calopa M, Rovira A, Macaya A, Riudor E, Losada M
Pediatr Neurol 1993 Sep-Oct;9(5):349-58. doi: 10.1016/0887-8994(93)90103-j. PMID: 8292209

Therapy

Gowda VK, Srinivasan VM, Jehta K, Bhat MD
Neuropediatrics 2019 Oct;50(5):313-317. Epub 2019 Jul 11 doi: 10.1055/s-0039-1693148. PMID: 31295743
Castiglioni C, Verrigni D, Okuma C, Diaz A, Alvarez K, Rizza T, Carrozzo R, Bertini E, Miranda M
Eur J Paediatr Neurol 2015 Sep;19(5):497-503. Epub 2015 May 14 doi: 10.1016/j.ejpn.2015.04.008. PMID: 26008863
Tonduti D, Zorzi G, Ghezzi D, Zibordi F, Garavaglia B, Nardocci N
J Child Neurol 2015 Nov;30(13):1800-5. Epub 2015 Apr 23 doi: 10.1177/0883073815581608. PMID: 25907776
Tzoulis C, Vedeler C, Haugen M, Storstein A, Tran GT, Gjerde IO, Biermann M, Schwarzlmüller T, Bindoff LA
BMC Neurol 2013 May 31;13:55. doi: 10.1186/1471-2377-13-55. PMID: 23725534Free PMC Article
Karagulle Kendi AT, Krenzel C, Ott FW, Brace JR, Norberg SK, Kieffer SA
AJNR Am J Neuroradiol 2008 Aug;29(7):1276-8. Epub 2008 May 1 doi: 10.3174/ajnr.A1065. PMID: 18451091Free PMC Article

Prognosis

Chen PS, Lee NC, Sung CJ, Liu YW, Weng WC, Fan PC, Lee WT, Chien YH, Wu CS, Sung YF, Tsai MC, Lee YC, Hsueh HW, Fan SM, Wu MC, Li H, Chen HY, Lin HI, Ou-Yang CH, Hwuh WL, Lin CH
Mov Disord 2023 Dec;38(12):2217-2229. Epub 2023 Sep 27 doi: 10.1002/mds.29604. PMID: 37752895
Di Lazzaro G, Graziola F, Sancesario A, Insalaco A, Moneta GM, Castelli E, Bertini E, Travaglini L, Stregapede F, Capuano A, Vasco G, Schirinzi T
Parkinsonism Relat Disord 2020 Oct;79:100-104. Epub 2020 Aug 30 doi: 10.1016/j.parkreldis.2020.08.039. PMID: 32911246
Canavese C, Davico C, Casabianca M, Olivieri C, Mancini S, Migliore G, Versace A, Tocchet A, Vitiello B
Neuropediatrics 2018 Jun;49(3):209-212. Epub 2018 Feb 22 doi: 10.1055/s-0037-1618590. PMID: 29471551
Karagulle Kendi AT, Krenzel C, Ott FW, Brace JR, Norberg SK, Kieffer SA
AJNR Am J Neuroradiol 2008 Aug;29(7):1276-8. Epub 2008 May 1 doi: 10.3174/ajnr.A1065. PMID: 18451091Free PMC Article
Leuzzi V, Bertini E, De Negri AM, Gallucci M, Garavaglia B
J Neurol Neurosurg Psychiatry 1992 Jan;55(1):16-9. doi: 10.1136/jnnp.55.1.16. PMID: 1548491Free PMC Article

Clinical prediction guides

Galosi S, Mancini C, Commone A, Calligari P, Caputo V, Nardecchia F, Carducci C, van den Heuvel LP, Pizzi S, Bruselles A, Niceta M, Martinelli S, Rodenburg RJ, Tartaglia M, Leuzzi V
Mov Disord 2024 Jul;39(7):1225-1231. Epub 2024 Apr 30 doi: 10.1002/mds.29795. PMID: 38685873
Rice GI, Kitabayashi N, Barth M, Briggs TA, Burton ACE, Carpanelli ML, Cerisola AM, Colson C, Dale RC, Danti FR, Darin N, De Azua B, De Giorgis V, De Goede CGL, Desguerre I, De Laet C, Eslahi A, Fahey MC, Fallon P, Fay A, Fazzi E, Gorman MP, Gowrinathan NR, Hully M, Kurian MA, Leboucq N, Lin JS, Lines MA, Mar SS, Maroofian R, Martí-Sanchez L, McCullagh G, Mojarrad M, Narayanan V, Orcesi S, Ortigoza-Escobar JD, Pérez-Dueñas B, Petit F, Ramsey KM, Rasmussen M, Rivier F, Rodríguez-Pombo P, Roubertie A, Stödberg TI, Toosi MB, Toutain A, Uettwiller F, Ulrick N, Vanderver A, Waldman A, Livingston JH, Crow YJ
Neuropediatrics 2017 Jun;48(3):166-184. Epub 2017 Apr 10 doi: 10.1055/s-0037-1601449. PMID: 28561207Free PMC Article
Castiglioni C, Verrigni D, Okuma C, Diaz A, Alvarez K, Rizza T, Carrozzo R, Bertini E, Miranda M
Eur J Paediatr Neurol 2015 Sep;19(5):497-503. Epub 2015 May 14 doi: 10.1016/j.ejpn.2015.04.008. PMID: 26008863
Livingston JH, Lin JP, Dale RC, Gill D, Brogan P, Munnich A, Kurian MA, Gonzalez-Martinez V, De Goede CG, Falconer A, Forte G, Jenkinson EM, Kasher PR, Szynkiewicz M, Rice GI, Crow YJ
J Med Genet 2014 Feb;51(2):76-82. Epub 2013 Nov 21 doi: 10.1136/jmedgenet-2013-102038. PMID: 24262145
Ashtekar CS, Jaspan T, Thomas D, Weston V, Gayatri NA, Whitehouse WP
Dev Med Child Neurol 2003 Sep;45(9):634-7. doi: 10.1017/s0012162203001154. PMID: 12948332

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