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Spinal cord xanthomatosis

MedGen UID:
1841578
Concept ID:
C5826535
Disease or Syndrome
Synonym: Spinal cord xanthomas
 
HPO: HP:0034624

Definition

Lipid deposits localized within the spinal cord. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia. [from HPO]

Term Hierarchy

Professional guidelines

Recent clinical studies

Etiology

Gelzo M, Di Taranto MD, Bisecco A, D'Amico A, Capuano R, Giacobbe C, Caputo M, Cirillo M, Tedeschi G, Fortunato G, Corso G
Acta Neurol Belg 2021 Apr;121(2):561-566. Epub 2019 Dec 24 doi: 10.1007/s13760-019-01267-4. PMID: 31875301
Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR
Expert Rev Neurother 2020 Jan;20(1):65-84. Epub 2019 Dec 12 doi: 10.1080/14737175.2020.1699060. PMID: 31829048
Palau F, Espinós C
Orphanet J Rare Dis 2006 Nov 17;1:47. doi: 10.1186/1750-1172-1-47. PMID: 17112370Free PMC Article
Barkhof F, Verrips A, Wesseling P, van Der Knaap MS, van Engelen BG, Gabreëls FJ, Keyser A, Wevers RA, Valk J
Radiology 2000 Dec;217(3):869-76. doi: 10.1148/radiology.217.3.r00dc03869. PMID: 11110956
Caparros-Lefebvre D, Pruvo JP, Rémy M, Wallaert B, Petit H
AJNR Am J Neuroradiol 1995 Apr;16(4):735-40. PMID: 7611030Free PMC Article

Diagnosis

Gelzo M, Di Taranto MD, Bisecco A, D'Amico A, Capuano R, Giacobbe C, Caputo M, Cirillo M, Tedeschi G, Fortunato G, Corso G
Acta Neurol Belg 2021 Apr;121(2):561-566. Epub 2019 Dec 24 doi: 10.1007/s13760-019-01267-4. PMID: 31875301
Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR
Expert Rev Neurother 2020 Jan;20(1):65-84. Epub 2019 Dec 12 doi: 10.1080/14737175.2020.1699060. PMID: 31829048
Mascalchi M, Vella A
Int Rev Neurobiol 2018;143:109-162. Epub 2018 Oct 29 doi: 10.1016/bs.irn.2018.09.011. PMID: 30473193
Palau F, Espinós C
Orphanet J Rare Dis 2006 Nov 17;1:47. doi: 10.1186/1750-1172-1-47. PMID: 17112370Free PMC Article
Salen G, Shefer S, Berginer V
Dev Neurosci 1991;13(4-5):363-70. doi: 10.1159/000112186. PMID: 1817043

Therapy

Lee JJ, Chang CC, Chang WN
Biomed J 2022 Oct;45(5):814-820. Epub 2021 Sep 20 doi: 10.1016/j.bj.2021.09.003. PMID: 34543727Free PMC Article
Ma C, Ren YD, Wang JC, Wang CJ, Zhao JP, Zhou T, Su HW
Medicine (Baltimore) 2021 Mar 5;100(9):e24687. doi: 10.1097/MD.0000000000024687. PMID: 33655933Free PMC Article
Gelzo M, Di Taranto MD, Bisecco A, D'Amico A, Capuano R, Giacobbe C, Caputo M, Cirillo M, Tedeschi G, Fortunato G, Corso G
Acta Neurol Belg 2021 Apr;121(2):561-566. Epub 2019 Dec 24 doi: 10.1007/s13760-019-01267-4. PMID: 31875301
Uygunoglu U, Gunduz A, Menku SF, Yilmaz B, Hatipoglu E, Yalcinkaya C, Saip S, Apaydin H
Cerebellum 2014 Dec;13(6):787-90. doi: 10.1007/s12311-014-0587-y. PMID: 25084753
Salen G, Shefer S, Berginer V
Dev Neurosci 1991;13(4-5):363-70. doi: 10.1159/000112186. PMID: 1817043

Prognosis

Min JH, Kim YS, Son MJ, Joo IS
J Med Case Rep 2024 Jul 11;18(1):334. doi: 10.1186/s13256-024-04426-1. PMID: 38987800Free PMC Article
Palau F, Espinós C
Orphanet J Rare Dis 2006 Nov 17;1:47. doi: 10.1186/1750-1172-1-47. PMID: 17112370Free PMC Article
Philippart M, Van Bogaert L
Arch Neurol 1969 Dec;21(6):603-10. doi: 10.1001/archneur.1969.00480180059004. PMID: 5355255

Clinical prediction guides

Gelzo M, Di Taranto MD, Bisecco A, D'Amico A, Capuano R, Giacobbe C, Caputo M, Cirillo M, Tedeschi G, Fortunato G, Corso G
Acta Neurol Belg 2021 Apr;121(2):561-566. Epub 2019 Dec 24 doi: 10.1007/s13760-019-01267-4. PMID: 31875301
Mascalchi M, Vella A
Int Rev Neurobiol 2018;143:109-162. Epub 2018 Oct 29 doi: 10.1016/bs.irn.2018.09.011. PMID: 30473193

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