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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

Kısa PT, Yildirim GK, Hismi BO, Dorum S, Kusbeci OY, Topak A, Baydan F, Celik FND, Gorukmez O, Gulten ZA, Ekici A, Ozkan S, Yaman A, Arslan N
Metab Brain Dis 2021 Aug;36(6):1201-1211. Epub 2021 Mar 11 doi: 10.1007/s11011-021-00714-7. PMID: 33704661
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
Pearson HJ, Mosser JL, Jacks SK
Pediatr Dermatol 2017 Nov;34(6):e305-e308. doi: 10.1111/pde.13306. PMID: 29144045
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
Dotti MT, Salen G, Federico A
Dev Neurosci 1991;13(4-5):371-6. doi: 10.1159/000112187. PMID: 1817044

Diagnosis

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
Gerrish AC, Gaba S
Radiology 2017 Mar;282(3):916-921. doi: 10.1148/radiol.2016150707. PMID: 28218883
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
Stawiski MA, Voorhees JJ
Cutis 1976 Sep;18(3):415-21. PMID: 797552
Guazzi GC, Martin JJ, Philippart M, Roels H, van der Eecken H, Vrints L, Delbeke MJ, Hooft C
Eur Neurol 1968;1(6):334-62. doi: 10.1159/000113673. PMID: 5711398

Therapy

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
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
Moghadasian MH, Salen G, Frohlich JJ, Scudamore CH
Arch Neurol 2002 Apr;59(4):527-9. doi: 10.1001/archneur.59.4.527. PMID: 11939886
Salen G, Shefer S, Berginer V
Dev Neurosci 1991;13(4-5):363-70. doi: 10.1159/000112186. PMID: 1817043
Stawiski MA, Voorhees JJ
Cutis 1976 Sep;18(3):415-21. PMID: 797552

Prognosis

Jain S, Ng ZX, Mantoo S, Yang EWR
World Neurosurg 2020 Aug;140:56-59. Epub 2020 May 11 doi: 10.1016/j.wneu.2020.05.015. PMID: 32437994
Takei H, Rouah E, Bhattacharjee MB
Int J Clin Exp Pathol 2015;8(6):7570-4. Epub 2015 Jun 1 PMID: 26261671Free PMC Article
Ohno T, Kobayashi S, Hayashi M, Sakurai M, Kanazawa I
J Neurol Sci 2001 Jan 1;182(2):95-7. doi: 10.1016/s0022-510x(00)00441-x. PMID: 11137513
Dotti MT, Salen G, Federico A
Dev Neurosci 1991;13(4-5):371-6. doi: 10.1159/000112187. PMID: 1817044
Philippart M, Van Bogaert L
Arch Neurol 1969 Dec;21(6):603-10. doi: 10.1001/archneur.1969.00480180059004. PMID: 5355255

Clinical prediction guides

Miljic D, Pekic S, Doknic M, Stojanovic M, Ilic S, Djurovic MN, Jemuovic Z, Milojevic T, Milicevic M, Jovanovic M, Medic Stojanoska M, Carić B, Radic N, Medenica S, Manojlovic Gacic E, Petakov M
Endocr J 2024 Mar 28;71(3):285-293. Epub 2024 Jan 27 doi: 10.1507/endocrj.EJ23-0398. PMID: 38281757
Roeben B, Just J, Hengel H, Bender F, Pöschl P, Synofzik M, Schöls L, Grimm A
Clin Neurophysiol 2020 Aug;131(8):1798-1803. Epub 2020 May 21 doi: 10.1016/j.clinph.2020.04.162. PMID: 32531740
Sedel F, Tourbah A, Fontaine B, Lubetzki C, Baumann N, Saudubray JM, Lyon-Caen O
J Inherit Metab Dis 2008 Jun;31(3):295-307. Epub 2008 Feb 25 doi: 10.1007/s10545-008-0778-0. PMID: 18344012
Siman-Tov T, Meiner V, Gadoth N
J Neurol Sci 2006 Apr 15;243(1-2):83-6. Epub 2006 Jan 30 doi: 10.1016/j.jns.2005.10.019. PMID: 16445943
Kinoshita M, Kawamura M, Fujita M, Hirota D, Suda T, Taki M, Kusano J, Takao K, Takenaka H, Kubota S, Teramoto T
J Atheroscler Thromb 2004;11(3):167-72. doi: 10.5551/jat.11.167. PMID: 15256768

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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