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Brain xanthomatosis

MedGen UID:
1842114
Concept ID:
C5826536
Disease or Syndrome
Synonyms: Brain xanthomas; Brain xanthomata
 
HPO: HP:0034625

Definition

Lipid deposits localized within the brain. 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

Öncel Acır N, Taskiran Kandeger B
Ophthalmic Genet 2023 Aug;44(4):361-365. Epub 2023 Apr 5 doi: 10.1080/13816810.2023.2197492. PMID: 37017268
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
Stelten BML, van de Warrenburg BPC, Wevers RA, Verrips A
Parkinsonism Relat Disord 2019 Jan;58:12-16. Epub 2018 Jul 19 doi: 10.1016/j.parkreldis.2018.07.006. PMID: 30054180
Kleinschmidt-DeMasters BK, Lillehei KO, Hankinson TC
Brain Pathol 2017 May;27(3):377-395. doi: 10.1111/bpa.12498. PMID: 28236350Free 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

Diagnosis

Caranci F, Leone G, Ponsiglione A, Muto M, Tortora F, Muto M, Cirillo S, Brunese L, Cerase A
Radiol Med 2020 Mar;125(3):319-328. Epub 2019 Dec 20 doi: 10.1007/s11547-019-01120-x. PMID: 31863360
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
Salen G, Steiner RD
J Inherit Metab Dis 2017 Nov;40(6):771-781. Epub 2017 Oct 4 doi: 10.1007/s10545-017-0093-8. PMID: 28980151
Hanna B, Li YM, Beutler T, Goyal P, Hall WA
J Clin Neurosci 2015 Jul;22(7):1091-7. Epub 2015 May 6 doi: 10.1016/j.jocn.2015.01.019. PMID: 25957783
van Hellenberg Hubar JL, Joosten EM, Wevers RA
Clin Neurol Neurosurg 1992;94 Suppl:S165-7. doi: 10.1016/0303-8467(92)90059-c. PMID: 1320501

Therapy

Herrera PM, Vélez Van Meerbeke A, Bonnot O
Rev Colomb Psiquiatr (Engl Ed) 2018 Oct-Dec;47(4):244-251. Epub 2017 Jun 17 doi: 10.1016/j.rcp.2017.05.004. PMID: 30286847
Joshi MN, Whitelaw BC, Carroll PV
Eur J Endocrinol 2018 Sep;179(3):R151-R163. Epub 2018 Jun 7 doi: 10.1530/EJE-17-0009. PMID: 29880706
Salen G, Steiner RD
J Inherit Metab Dis 2017 Nov;40(6):771-781. Epub 2017 Oct 4 doi: 10.1007/s10545-017-0093-8. PMID: 28980151
Hanna B, Li YM, Beutler T, Goyal P, Hall WA
J Clin Neurosci 2015 Jul;22(7):1091-7. Epub 2015 May 6 doi: 10.1016/j.jocn.2015.01.019. PMID: 25957783
Stawiski MA, Voorhees JJ
Cutis 1976 Sep;18(3):415-21. PMID: 797552

Prognosis

Koyama S, Sekijima Y, Ogura M, Hori M, Matsuki K, Miida T, Harada-Shiba M
J Atheroscler Thromb 2021 Sep 1;28(9):905-925. Epub 2021 May 8 doi: 10.5551/jat.RV17055. PMID: 33967188Free PMC Article
Caranci F, Leone G, Ponsiglione A, Muto M, Tortora F, Muto M, Cirillo S, Brunese L, Cerase A
Radiol Med 2020 Mar;125(3):319-328. Epub 2019 Dec 20 doi: 10.1007/s11547-019-01120-x. PMID: 31863360
Salen G, Steiner RD
J Inherit Metab Dis 2017 Nov;40(6):771-781. Epub 2017 Oct 4 doi: 10.1007/s10545-017-0093-8. PMID: 28980151
Palau F, Espinós C
Orphanet J Rare Dis 2006 Nov 17;1:47. doi: 10.1186/1750-1172-1-47. PMID: 17112370Free PMC Article
Moghadasian MH
Clin Invest Med 2004 Feb;27(1):42-50. PMID: 15061585

Clinical prediction guides

Zubarioglu T, Kıykım E, Köse E, Eminoğlu FT, Teke Kısa P, Balcı MC, Özer I, İnci A, Çilesiz K, Canda E, Yazıcı H, Öztürk-Hişmi B, Bulut FD, Dorum S, Akgun A, Yalçın-Çakmaklı G, Kılıç-Yıldırım G, Soyuçen E, Akçalı A, Güneş D, Durmuş A, Gündüz A, Kasapkara ÇS, Göksoy E, Akar HT, Ersoy M, Erdöl Ş, Yıldız Y, Hanağası HA, Arslan N, Aktuğlu-Zeybek Ç
Mol Genet Metab 2024 Jun;142(2):108493. Epub 2024 May 13 doi: 10.1016/j.ymgme.2024.108493. PMID: 38772327
Caranci F, Leone G, Ponsiglione A, Muto M, Tortora F, Muto M, Cirillo S, Brunese L, Cerase A
Radiol Med 2020 Mar;125(3):319-328. Epub 2019 Dec 20 doi: 10.1007/s11547-019-01120-x. PMID: 31863360
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
Amador MDM, Masingue M, Debs R, Lamari F, Perlbarg V, Roze E, Degos B, Mochel F
J Inherit Metab Dis 2018 Sep;41(5):799-807. Epub 2018 Mar 20 doi: 10.1007/s10545-018-0162-7. PMID: 29560583
Abate M, Salini V, Andia I
Adv Exp Med Biol 2016;920:117-22. doi: 10.1007/978-3-319-33943-6_10. PMID: 27535253

Recent systematic reviews

de Vries F, van Furth WR, Biermasz NR, Pereira AM
Presse Med 2021 Dec;50(4):104076. Epub 2021 Oct 21 doi: 10.1016/j.lpm.2021.104076. PMID: 34687912
Zhu J, Wang Z, Wang W, Fan J, Zhang Y, Li X, Liu J, Jiang S, Deng K, Duan L, Yao Y, Zhu H
Front Endocrinol (Lausanne) 2021;12:735655. Epub 2021 Oct 1 doi: 10.3389/fendo.2021.735655. PMID: 34659121Free PMC Article
Mathkour M, Michael A, Scullen T, Carsky K, Hage M, Werner C, Carr C, Keen JR, Ware ML
Clin Neurol Neurosurg 2020 Nov;198:106143. Epub 2020 Aug 11 doi: 10.1016/j.clineuro.2020.106143. PMID: 32810760

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