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Susac syndrome

MedGen UID:
439270
Concept ID:
C2717757
Disease or Syndrome
Synonyms: Retinocochleocerebral vasculopathy; SICRET (small infarction of cochlear, retinal, and encephalic tissue) syndrome
SNOMED CT: Susac syndrome (702575003); Retinocochleocerebral vasculopathy (702575003)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
Concept ID:
CN307042
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
 
Monarch Initiative: MONDO:0019390
Orphanet: ORPHA838

Definition

An arteriopathy characterised by visual loss, progressive or episodic deafness, and abnormal fundoscopy. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSusac syndrome
Follow this link to review classifications for Susac syndrome in Orphanet.

Professional guidelines

PubMed

Marrodan M, Fiol MP, Correale J
Brain 2022 Apr 29;145(3):858-871. doi: 10.1093/brain/awab476. PMID: 35136969
Rennebohm RM, Asdaghi N, Srivastava S, Gertner E
Int J Stroke 2020 Jul;15(5):484-494. Epub 2018 Jan 10 doi: 10.1177/1747493017751737. PMID: 29319463
Kleffner I, Dörr J, Ringelstein M, Gross CC, Böckenfeld Y, Schwindt W, Sundermann B, Lohmann H, Wersching H, Promesberger J, von Königsmarck N, Alex A, Guthoff R, Frijns CJ, Kappelle LJ, Jarius S, Wildemann B, Aktas O, Paul F, Wiendl H, Duning T; European Susac Consortium (EuSaC)
J Neurol Neurosurg Psychiatry 2016 Dec;87(12):1287-1295. Epub 2016 Oct 25 doi: 10.1136/jnnp-2016-314295. PMID: 28103199

Recent clinical studies

Etiology

Marrodan M, Fiol MP, Correale J
Brain 2022 Apr 29;145(3):858-871. doi: 10.1093/brain/awab476. PMID: 35136969
Bersano A, Kraemer M, Burlina A, Mancuso M, Finsterer J, Sacco S, Salvarani C, Caputi L, Chabriat H, Oberstein SL, Federico A, Lasserve ET, Hunt D, Dichgans M, Arnold M, Debette S, Markus HS
J Neurol 2021 Aug;268(8):2780-2807. Epub 2020 Apr 21 doi: 10.1007/s00415-020-09836-x. PMID: 32318851
Rennebohm RM, Asdaghi N, Srivastava S, Gertner E
Int J Stroke 2020 Jul;15(5):484-494. Epub 2018 Jan 10 doi: 10.1177/1747493017751737. PMID: 29319463
Höftberger R, Lassmann H
Handb Clin Neurol 2017;145:285-299. doi: 10.1016/B978-0-12-802395-2.00020-1. PMID: 28987176
Kleffner I, Dörr J, Ringelstein M, Gross CC, Böckenfeld Y, Schwindt W, Sundermann B, Lohmann H, Wersching H, Promesberger J, von Königsmarck N, Alex A, Guthoff R, Frijns CJ, Kappelle LJ, Jarius S, Wildemann B, Aktas O, Paul F, Wiendl H, Duning T; European Susac Consortium (EuSaC)
J Neurol Neurosurg Psychiatry 2016 Dec;87(12):1287-1295. Epub 2016 Oct 25 doi: 10.1136/jnnp-2016-314295. PMID: 28103199

Diagnosis

Marrodan M, Fiol MP, Correale J
Brain 2022 Apr 29;145(3):858-871. doi: 10.1093/brain/awab476. PMID: 35136969
Bersano A, Kraemer M, Burlina A, Mancuso M, Finsterer J, Sacco S, Salvarani C, Caputi L, Chabriat H, Oberstein SL, Federico A, Lasserve ET, Hunt D, Dichgans M, Arnold M, Debette S, Markus HS
J Neurol 2021 Aug;268(8):2780-2807. Epub 2020 Apr 21 doi: 10.1007/s00415-020-09836-x. PMID: 32318851
Filippi M, Preziosa P, Banwell BL, Barkhof F, Ciccarelli O, De Stefano N, Geurts JJG, Paul F, Reich DS, Toosy AT, Traboulsee A, Wattjes MP, Yousry TA, Gass A, Lubetzki C, Weinshenker BG, Rocca MA
Brain 2019 Jul 1;142(7):1858-1875. doi: 10.1093/brain/awz144. PMID: 31209474Free PMC Article
Kleffner I, Dörr J, Ringelstein M, Gross CC, Böckenfeld Y, Schwindt W, Sundermann B, Lohmann H, Wersching H, Promesberger J, von Königsmarck N, Alex A, Guthoff R, Frijns CJ, Kappelle LJ, Jarius S, Wildemann B, Aktas O, Paul F, Wiendl H, Duning T; European Susac Consortium (EuSaC)
J Neurol Neurosurg Psychiatry 2016 Dec;87(12):1287-1295. Epub 2016 Oct 25 doi: 10.1136/jnnp-2016-314295. PMID: 28103199
Sarbu N, Shih RY, Jones RV, Horkayne-Szakaly I, Oleaga L, Smirniotopoulos JG
Radiographics 2016 Sep-Oct;36(5):1426-47. doi: 10.1148/rg.2016160031. PMID: 27618323

Therapy

Dawe JA, Green AL
Curr Pain Headache Rep 2021 Mar 18;25(4):25. doi: 10.1007/s11916-021-00939-2. PMID: 33738651
Rennebohm RM, Asdaghi N, Srivastava S, Gertner E
Int J Stroke 2020 Jul;15(5):484-494. Epub 2018 Jan 10 doi: 10.1177/1747493017751737. PMID: 29319463
Heng LZ, Bailey C, Lee R, Dick A, Ross A
Surv Ophthalmol 2019 Jul-Aug;64(4):477-485. Epub 2019 Jan 29 doi: 10.1016/j.survophthal.2019.01.007. PMID: 30703404
Egan RA
J Neuroophthalmol 2019 Mar;39(1):60-67. doi: 10.1097/WNO.0000000000000677. PMID: 29933288
Rennebohm R, Susac JO, Egan RA, Daroff RB
J Neurol Sci 2010 Dec 15;299(1-2):86-91. Epub 2010 Sep 19 doi: 10.1016/j.jns.2010.08.032. PMID: 20855088

Prognosis

Stinissen R, Tukanov E, Wyckmans M, Kerstens J, Willekens B
J Neurol 2023 Dec;270(12):5719-5730. Epub 2023 Sep 5 doi: 10.1007/s00415-023-11936-3. PMID: 37668702
Marrodan M, Fiol MP, Correale J
Brain 2022 Apr 29;145(3):858-871. doi: 10.1093/brain/awab476. PMID: 35136969
Rennebohm RM, Asdaghi N, Srivastava S, Gertner E
Int J Stroke 2020 Jul;15(5):484-494. Epub 2018 Jan 10 doi: 10.1177/1747493017751737. PMID: 29319463
Patel VA, Dunklebarger M, Zacharia TT, Isildak H
Acta Otorhinolaryngol Ital 2018 Dec;38(6):544-553. doi: 10.14639/0392-100X-2166. PMID: 30623900Free PMC Article
Papo T, Biousse V, Lehoang P, Fardeau C, N'Guyen N, Huong DL, Aumaitre O, Bousser MG, Godeau P, Piette JC
Medicine (Baltimore) 1998 Jan;77(1):3-11. doi: 10.1097/00005792-199801000-00002. PMID: 9465860

Clinical prediction guides

Stinissen R, Tukanov E, Wyckmans M, Kerstens J, Willekens B
J Neurol 2023 Dec;270(12):5719-5730. Epub 2023 Sep 5 doi: 10.1007/s00415-023-11936-3. PMID: 37668702
Bose S, Papathanasiou A, Karkhanis S, Appleton JP, King D, Batra R, Mollan SP, Jacob S
J Neurol 2023 Dec;270(12):6193-6206. Epub 2023 Aug 22 doi: 10.1007/s00415-023-11891-z. PMID: 37608221Free PMC Article
Hoogewoud F, Kawasaki A, Borruat FX, Guex-Crosier Y
Klin Monbl Augenheilkd 2022 Apr;239(4):518-522. Epub 2022 Apr 26 doi: 10.1055/a-1766-6243. PMID: 35472796
Machado S, Jouvent E, Klein I, De Guio F, Machado C, Cohen-Aubart F, Sacré K, Papo T
J Neurol 2020 Apr;267(4):994-1003. Epub 2019 Dec 11 doi: 10.1007/s00415-019-09664-8. PMID: 31828475
Vishnevskia-Dai V, Chapman J, Sheinfeld R, Sharon T, Huna-Baron R, Manor RS, Shoenfeld Y, Zloto O
Medicine (Baltimore) 2016 Oct;95(43):e5223. doi: 10.1097/MD.0000000000005223. PMID: 27787385Free PMC Article

Recent systematic reviews

Wilf-Yarkoni A, Zmira O, Tolkovsky A, Pflantzer B, Gofrit SG, Kleffner I, Paul F, Dörr J
Neurol Neuroimmunol Neuroinflamm 2024 May;11(3):e200209. Epub 2024 Feb 16 doi: 10.1212/NXI.0000000000200209. PMID: 38364193

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