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Superficial siderosis

MedGen UID:
1371500
Concept ID:
C2938918
Finding
Synonyms: Hemosiderosis of the central nervous system; hemosiderosis of the central nervous system; Superficial hemosiderosis of the central nervous system; superficial hemosiderosis of the central nervous system; Superficial hemosiderosis of the CNS; superficial hemosiderosis of the CNS; superficial siderosis; Superficial siderosis of central nervous system; superficial siderosis of the central nervous system; Superficial siderosis of the central nervous system; Superficial siderosis of the CNS; superficial siderosis of the CNS
SNOMED CT: Superficial siderosis of central nervous system (733200004)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0016594
Orphanet: ORPHA247245

Definition

Superficial siderosis is a rare neurologic disease characterized by progressive sensorineural hearing loss, cerebellar ataxia, pyramidal signs, and neuroimaging findings revealing hemosiderin deposits in the spinal and cranial leptomeninges and subpial layer. The disease progresses slowly and patients may present with mild cognitive impairment, nystagmus, dysmetria, spasticity, dysdiadochokinesia, dysarthria, hyperreflexia, and Babinski signs. Additional features reported include dementia, urinary incontinence, anosmia, ageusia, and anisocoria. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSuperficial siderosis

Professional guidelines

PubMed

Charidimou A, Boulouis G, Frosch MP, Baron JC, Pasi M, Albucher JF, Banerjee G, Barbato C, Bonneville F, Brandner S, Calviere L, Caparros F, Casolla B, Cordonnier C, Delisle MB, Deramecourt V, Dichgans M, Gokcal E, Herms J, Hernandez-Guillamon M, Jäger HR, Jaunmuktane Z, Linn J, Martinez-Ramirez S, Martínez-Sáez E, Mawrin C, Montaner J, Moulin S, Olivot JM, Piazza F, Puy L, Raposo N, Rodrigues MA, Roeber S, Romero JR, Samarasekera N, Schneider JA, Schreiber S, Schreiber F, Schwall C, Smith C, Szalardy L, Varlet P, Viguier A, Wardlaw JM, Warren A, Wollenweber FA, Zedde M, van Buchem MA, Gurol ME, Viswanathan A, Al-Shahi Salman R, Smith EE, Werring DJ, Greenberg SM
Lancet Neurol 2022 Aug;21(8):714-725. doi: 10.1016/S1474-4422(22)00208-3. PMID: 35841910Free PMC Article
Kozberg MG, Perosa V, Gurol ME, van Veluw SJ
Int J Stroke 2021 Jun;16(4):356-369. Epub 2020 Nov 29 doi: 10.1177/1747493020974464. PMID: 33252026Free PMC Article
Dusek P, Schneider SA, Aaseth J
J Trace Elem Med Biol 2016 Dec;38:81-92. Epub 2016 Mar 24 doi: 10.1016/j.jtemb.2016.03.010. PMID: 27033472

Recent clinical studies

Etiology

Szidonya L, Nickerson JP
Radiol Clin North Am 2023 May;61(3):551-562. Epub 2023 Feb 20 doi: 10.1016/j.rcl.2023.01.009. PMID: 36931769
Häni L, Fung C, Jesse CM, Schild C, Piechowiak EI, Dobrocky T, Raabe A, Beck J
Eur J Neurol 2023 Jan;30(1):235-240. Epub 2022 Oct 19 doi: 10.1111/ene.15591. PMID: 36209476
Charidimou A, Boulouis G, Frosch MP, Baron JC, Pasi M, Albucher JF, Banerjee G, Barbato C, Bonneville F, Brandner S, Calviere L, Caparros F, Casolla B, Cordonnier C, Delisle MB, Deramecourt V, Dichgans M, Gokcal E, Herms J, Hernandez-Guillamon M, Jäger HR, Jaunmuktane Z, Linn J, Martinez-Ramirez S, Martínez-Sáez E, Mawrin C, Montaner J, Moulin S, Olivot JM, Piazza F, Puy L, Raposo N, Rodrigues MA, Roeber S, Romero JR, Samarasekera N, Schneider JA, Schreiber S, Schreiber F, Schwall C, Smith C, Szalardy L, Varlet P, Viguier A, Wardlaw JM, Warren A, Wollenweber FA, Zedde M, van Buchem MA, Gurol ME, Viswanathan A, Al-Shahi Salman R, Smith EE, Werring DJ, Greenberg SM
Lancet Neurol 2022 Aug;21(8):714-725. doi: 10.1016/S1474-4422(22)00208-3. PMID: 35841910Free PMC Article
Kozberg MG, Perosa V, Gurol ME, van Veluw SJ
Int J Stroke 2021 Jun;16(4):356-369. Epub 2020 Nov 29 doi: 10.1177/1747493020974464. PMID: 33252026Free PMC Article
Sperling RA, Jack CR Jr, Black SE, Frosch MP, Greenberg SM, Hyman BT, Scheltens P, Carrillo MC, Thies W, Bednar MM, Black RS, Brashear HR, Grundman M, Siemers ER, Feldman HH, Schindler RJ
Alzheimers Dement 2011 Jul;7(4):367-85. doi: 10.1016/j.jalz.2011.05.2351. PMID: 21784348Free PMC Article

Diagnosis

Szidonya L, Nickerson JP
Radiol Clin North Am 2023 May;61(3):551-562. Epub 2023 Feb 20 doi: 10.1016/j.rcl.2023.01.009. PMID: 36931769
Charidimou A, Boulouis G, Frosch MP, Baron JC, Pasi M, Albucher JF, Banerjee G, Barbato C, Bonneville F, Brandner S, Calviere L, Caparros F, Casolla B, Cordonnier C, Delisle MB, Deramecourt V, Dichgans M, Gokcal E, Herms J, Hernandez-Guillamon M, Jäger HR, Jaunmuktane Z, Linn J, Martinez-Ramirez S, Martínez-Sáez E, Mawrin C, Montaner J, Moulin S, Olivot JM, Piazza F, Puy L, Raposo N, Rodrigues MA, Roeber S, Romero JR, Samarasekera N, Schneider JA, Schreiber S, Schreiber F, Schwall C, Smith C, Szalardy L, Varlet P, Viguier A, Wardlaw JM, Warren A, Wollenweber FA, Zedde M, van Buchem MA, Gurol ME, Viswanathan A, Al-Shahi Salman R, Smith EE, Werring DJ, Greenberg SM
Lancet Neurol 2022 Aug;21(8):714-725. doi: 10.1016/S1474-4422(22)00208-3. PMID: 35841910Free PMC Article
Kozberg MG, Perosa V, Gurol ME, van Veluw SJ
Int J Stroke 2021 Jun;16(4):356-369. Epub 2020 Nov 29 doi: 10.1177/1747493020974464. PMID: 33252026Free PMC Article
Dillard-Cannon E, Atsina KB, Ghobrial G, Gnass E, Curtis MT, Heller J
J Clin Neurosci 2016 Aug;30:149-151. Epub 2016 Mar 28 doi: 10.1016/j.jocn.2016.01.019. PMID: 27032749
Choh NA, Kirmani OS, Choh SA, Jehangir M
Neurol India 2009 Sep-Oct;57(5):687-8. doi: 10.4103/0028-3886.57785. PMID: 19934584

Therapy

Roytman M, Mashriqi F, Al-Tawil K, Schulz PE, Zaharchuk G, Benzinger TLS, Franceschi AM
AJR Am J Roentgenol 2023 Apr;220(4):562-574. Epub 2022 Nov 2 doi: 10.2214/AJR.22.28461. PMID: 36321981
Salloway S, Chalkias S, Barkhof F, Burkett P, Barakos J, Purcell D, Suhy J, Forrestal F, Tian Y, Umans K, Wang G, Singhal P, Budd Haeberlein S, Smirnakis K
JAMA Neurol 2022 Jan 1;79(1):13-21. doi: 10.1001/jamaneurol.2021.4161. PMID: 34807243Free PMC Article
Dusek P, Schneider SA, Aaseth J
J Trace Elem Med Biol 2016 Dec;38:81-92. Epub 2016 Mar 24 doi: 10.1016/j.jtemb.2016.03.010. PMID: 27033472
Sperling RA, Jack CR Jr, Black SE, Frosch MP, Greenberg SM, Hyman BT, Scheltens P, Carrillo MC, Thies W, Bednar MM, Black RS, Brashear HR, Grundman M, Siemers ER, Feldman HH, Schindler RJ
Alzheimers Dement 2011 Jul;7(4):367-85. doi: 10.1016/j.jalz.2011.05.2351. PMID: 21784348Free PMC Article
Wagner KR, Dwyer BE
Ann N Y Acad Sci 2004 Mar;1012:237-51. doi: 10.1196/annals.1306.020. PMID: 15105270

Prognosis

Weidauer S, Tafreshi M, Förch C, Hattingen E, Arendt CT, Friedauer L
Eur J Neurol 2024 Oct;31(10):e16425. Epub 2024 Aug 6 doi: 10.1111/ene.16425. PMID: 39105407Free PMC Article
Roytman M, Mashriqi F, Al-Tawil K, Schulz PE, Zaharchuk G, Benzinger TLS, Franceschi AM
AJR Am J Roentgenol 2023 Apr;220(4):562-574. Epub 2022 Nov 2 doi: 10.2214/AJR.22.28461. PMID: 36321981
Filippi M, Cecchetti G, Spinelli EG, Vezzulli P, Falini A, Agosta F
JAMA Neurol 2022 Mar 1;79(3):291-304. doi: 10.1001/jamaneurol.2021.5205. PMID: 35099507
Wu JJ, Yao M, Ni J
Chin Med J (Engl) 2021 Feb 23;134(6):646-654. doi: 10.1097/CM9.0000000000001427. PMID: 33625036Free PMC Article
Boulouis G, Edjlali-Goujon M, Moulin S, Ben Hassen W, Naggara O, Oppenheim C, Cordonnier C
Rev Neurol (Paris) 2017 Nov;173(9):554-561. Epub 2017 Oct 4 doi: 10.1016/j.neurol.2017.09.004. PMID: 28987481

Clinical prediction guides

Roytman M, Mashriqi F, Al-Tawil K, Schulz PE, Zaharchuk G, Benzinger TLS, Franceschi AM
AJR Am J Roentgenol 2023 Apr;220(4):562-574. Epub 2022 Nov 2 doi: 10.2214/AJR.22.28461. PMID: 36321981
Antolini L, DiFrancesco JC, Zedde M, Basso G, Arighi A, Shima A, Cagnin A, Caulo M, Carare RO, Charidimou A, Cirillo M, Di Lazzaro V, Ferrarese C, Giossi A, Inzitari D, Marcon M, Marconi R, Ihara M, Nitrini R, Orlandi B, Padovani A, Pascarella R, Perini F, Perini G, Sessa M, Scarpini E, Tagliavini F, Valenti R, Vázquez-Costa JF, Villarejo-Galende A, Hagiwara Y, Ziliotto N, Piazza F
Neurology 2021 Nov 2;97(18):e1809-e1822. Epub 2021 Sep 16 doi: 10.1212/WNL.0000000000012778. PMID: 34531298Free PMC Article
Xiong L, Boulouis G, Charidimou A, Roongpiboonsopit D, Jessel MJ, Pasi M, Reijmer YD, Fotiadis P, Ayres A, Merrill E, Schwab K, Blacker D, Gurol ME, Greenberg SM, Viswanathan A
J Cereb Blood Flow Metab 2018 Feb;38(2):241-249. Epub 2017 Mar 20 doi: 10.1177/0271678X17700435. PMID: 28318355Free PMC Article
Charidimou A, Boulouis G, Roongpiboonsopit D, Auriel E, Pasi M, Haley K, van Etten ES, Martinez-Ramirez S, Ayres A, Vashkevich A, Schwab KM, Goldstein JN, Rosand J, Viswanathan A, Greenberg SM, Gurol ME
Neurology 2017 Nov 21;89(21):2128-2135. Epub 2017 Oct 25 doi: 10.1212/WNL.0000000000004665. PMID: 29070669Free PMC Article
Linn J, Wollenweber FA, Lummel N, Bochmann K, Pfefferkorn T, Gschwendtner A, Bruckmann H, Dichgans M, Opherk C
J Neurol 2013 Jan;260(1):176-81. Epub 2012 Jul 22 doi: 10.1007/s00415-012-6610-7. PMID: 22820723

Recent systematic reviews

Dembour V, Mallereau CH, Chibbaro S, Segbedji FKK, Pop R, Cebula H, Lhermitte B, Todeschi J
World Neurosurg 2024 Aug;188:128-135. Epub 2024 May 18 doi: 10.1016/j.wneu.2024.05.085. PMID: 38768750
Wu W, Ji Y, Wang Z, Wu X, Li J, Gu F, Chen Z, Wang Z
Eur J Med Res 2023 Nov 28;28(1):544. doi: 10.1186/s40001-023-01512-w. PMID: 38017568Free PMC Article
Theodorou A, Palaiodimou L, Malhotra K, Zompola C, Katsanos AH, Shoamanesh A, Boviatsis E, Dardiotis E, Spilioti M, Sacco S, Werring DJ, Cordonnier C, Alexandrov AV, Paraskevas GP, Tsivgoulis G
Stroke 2023 Jan;54(1):178-188. Epub 2022 Dec 1 doi: 10.1161/STROKEAHA.122.040671. PMID: 36453271
Filippi M, Cecchetti G, Spinelli EG, Vezzulli P, Falini A, Agosta F
JAMA Neurol 2022 Mar 1;79(3):291-304. doi: 10.1001/jamaneurol.2021.5205. PMID: 35099507
Tyler GK, Martin TP, Baguley DM
Otol Neurotol 2012 Aug;33(6):976-82. doi: 10.1097/MAO.0b013e3182565a46. PMID: 22710551

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