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Cerebral subcortical cyst

MedGen UID:
1863670
Concept ID:
C5937230
Anatomical Abnormality
HPO: HP:6000461

Definition

A fluid-filled sac (cyst) in the region below the cortex of the cerebrum. In magnetic resonance imaging, the fluid within the cyst has the same appearance as cerebrospinal fluid (CSF). [from HPO]

Term Hierarchy

Conditions with this feature

Megalencephalic leukoencephalopathy with subcortical cysts 3
MedGen UID:
1841261
Concept ID:
C5830625
Disease or Syndrome
Megalencephalic leukoencephalopathy with subcortical cysts-3 (MLC3) is a neurodegenerative disorder characterized by increased head circumference in infancy followed by progressive motor and cognitive decline in early childhood. Affected individuals either do not achieve walking or lose independent ambulation in the first or second decades. Cognitive impairment is variable and accompanied by poor speech and dysarthria. Most patients have early-onset seizures, which may be mild or refractory. Brain imaging shows unremitting megalencephalic leukoencephalopathy with subcortical cysts and swelling of the cerebral white matter (Passchier et al., 2023). For a discussion of genetic heterogeneity of megalencephalic leukoencephalopathy with subcortical cysts, see MLC1 (604004).
Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting
MedGen UID:
1841264
Concept ID:
C5830628
Disease or Syndrome
Remitting megalencephalic leukoencephalopathy with subcortical cysts-4 (MLC4) is an autosomal recessive neurologic disorder characterized by macrocephaly in infancy associated with developmental delay, delayed walking, variable cognitive decline, behavioral abnormalities, and early-onset seizures. The severity of neurologic dysfunction is variable, even within a family, but tends to show improvement with time. Brain imaging shows swelling of the cerebral white matter and subcortical cysts in the anterior temporal region, consistent with MLC. Brain imaging abnormalities also tend to improve with time, indicating a remitting disease course (Passchier et al., 2023). For a discussion of genetic heterogeneity of megalencephalic leukoencephalopathy with subcortical cysts, see MLC1 (604004).

Professional guidelines

PubMed

Ribas GA, de Mori LH, Freddi TAL, Oliveira LDS, de Souza SR, Corrêa DG
Neuroradiol J 2024 Dec;37(6):705-722. Epub 2024 May 4 doi: 10.1177/19714009241252625. PMID: 38703015Free PMC Article
Nielsen SH, Skjøth-Rasmussen J, Moldrup SD, Engelmann CM, Jespersen B, Rasmussen R
Neurosurg Clin N Am 2023 Apr;34(2):239-245. Epub 2023 Jan 31 doi: 10.1016/j.nec.2022.11.003. PMID: 36906330
Boissonneau S, Duffau H
Expert Rev Anticancer Ther 2017 Aug;17(8):703-716. Epub 2017 Jun 28 doi: 10.1080/14737140.2017.1342537. PMID: 28608763

Recent clinical studies

Etiology

Ille S, Zhang H, Sogerer L, Schwendner M, Schöder A, Meyer B, Wiestler B, Krieg SM
Hum Brain Mapp 2022 Dec 15;43(18):5408-5420. Epub 2022 Jul 19 doi: 10.1002/hbm.26014. PMID: 35851513Free PMC Article
Tate MC
Cancer Treat Res 2015;163:31-47. doi: 10.1007/978-3-319-12048-5_3. PMID: 25468224
Riva M, Bello L
Curr Opin Oncol 2014 Nov;26(6):615-21. doi: 10.1097/CCO.0000000000000120. PMID: 25279963
D'Amico RS, Kennedy BC, Bruce JN
J Neurooncol 2014 Sep;119(3):451-63. Epub 2014 Jun 27 doi: 10.1007/s11060-014-1493-3. PMID: 24969924
Perlman SJ, Mar S
Adv Exp Med Biol 2012;724:154-71. doi: 10.1007/978-1-4614-0653-2_13. PMID: 22411242

Diagnosis

Tate MC
Cancer Treat Res 2015;163:31-47. doi: 10.1007/978-3-319-12048-5_3. PMID: 25468224
Renaud DL
Semin Neurol 2012 Feb;32(1):34-41. Epub 2012 Mar 15 doi: 10.1055/s-0032-1306384. PMID: 22422204
Perlman SJ, Mar S
Adv Exp Med Biol 2012;724:154-71. doi: 10.1007/978-1-4614-0653-2_13. PMID: 22411242
Rosenbloom MH, Smith S, Akdal G, Geschwind MD
Curr Neurol Neurosci Rep 2009 Sep;9(5):359-67. doi: 10.1007/s11910-009-0053-2. PMID: 19664365Free PMC Article
Smirniotopoulos JG, Murphy FM, Rushing EJ, Rees JH, Schroeder JW
Radiographics 2007 Mar-Apr;27(2):525-51. doi: 10.1148/rg.272065155. PMID: 17374867

Therapy

Hotchkiss KM, Karschnia P, Schreck KC, Geurts M, Cloughesy TF, Huse J, Duke ES, Lathia J, Ashley DM, Nduom EK, Long G, Singh K, Chalmers A, Ahluwalia MS, Heimberger A, Bagley S, Todo T, Verhaak R, Kelly PD, Hervey-Jumper S, de Groot J, Patel A, Fecci P, Parney I, Wykes V, Watts C, Burns TC, Sanai N, Preusser M, Tonn JC, Drummond KJ, Platten M, Das S, Tanner K, Vogelbaum MA, Weller M, Whittle JR, Berger MS, Khasraw M
Lancet Oncol 2024 Oct;25(10):e512-e519. doi: 10.1016/S1470-2045(24)00190-6. PMID: 39362262
Lambert N, Steinmetz M, Sibille A, Sadzot B
Ann Neurol 2021 Jun;89(6):1255-1256. Epub 2021 Mar 12 doi: 10.1002/ana.26054. PMID: 33641185
Riva M, Bello L
Curr Opin Oncol 2014 Nov;26(6):615-21. doi: 10.1097/CCO.0000000000000120. PMID: 25279963
Siva K, Covello G, Denti MA
Nucleic Acid Ther 2014 Feb;24(1):69-86. doi: 10.1089/nat.2013.0461. PMID: 24506781Free PMC Article
Monje M, Dietrich J
Behav Brain Res 2012 Feb 14;227(2):376-9. Epub 2011 May 23 doi: 10.1016/j.bbr.2011.05.012. PMID: 21621557Free PMC Article

Prognosis

Saffari A, Lau T, Tajsharghi H, Karimiani EG, Kariminejad A, Efthymiou S, Zifarelli G, Sultan T, Toosi MB, Sedighzadeh S, Siu VM, Ortigoza-Escobar JD, AlShamsi AM, Ibrahim S, Al-Sannaa NA, Al-Hertani W, Sandra W, Tarnopolsky M, Alavi S, Li C, Day-Salvatore DL, Martínez-González MJ, Levandoski KM, Bedoukian E, Madan-Khetarpal S, Idleburg MJ, Menezes MJ, Siddharth A, Platzer K, Oppermann H, Smitka M, Collins F, Lek M, Shahrooei M, Ghavideldarestani M, Herman I, Rendu J, Faure J, Baker J, Bhambhani V, Calderwood L, Akhondian J, Imannezhad S, Mirzadeh HS, Hashemi N, Doosti M, Safi M, Ahangari N, Torbati PN, Abedini S, Salpietro V, Gulec EY, Eshaghian S, Ghazavi M, Pascher MT, Vogel M, Abicht A, Moutton S, Bruel AL, Rieubland C, Gallati S, Strom TM, Lochmüller H, Mohammadi MH, Alvi JR, Zackai EH, Keena BA, Skraban CM, Berger SI, Andrew EH, Rahimian E, Morrow MM, Wentzensen IM, Millan F, Henderson LB, Dafsari HS, Jungbluth H, Gomez-Ospina N, McRae A, Peter M, Veltra D, Marinakis NM, Sofocleous C, Ashrafzadeh F, Pehlivan D, Lemke JR, Melki J, Benezit A, Bauer P, Weis D, Lupski JR, Senderek J, Christodoulou J, Chung WK, Goodchild R, Offiah AC, Moreno-De-Luca A, Suri M, Ebrahimi-Fakhari D, Houlden H, Maroofian R
Brain 2023 Aug 1;146(8):3273-3288. doi: 10.1093/brain/awad039. PMID: 36757831Free PMC Article
Ille S, Zhang H, Sogerer L, Schwendner M, Schöder A, Meyer B, Wiestler B, Krieg SM
Hum Brain Mapp 2022 Dec 15;43(18):5408-5420. Epub 2022 Jul 19 doi: 10.1002/hbm.26014. PMID: 35851513Free PMC Article
Shan F, Long Y, Qiu W
Front Immunol 2018;9:2802. Epub 2018 Dec 5 doi: 10.3389/fimmu.2018.02802. PMID: 30568655Free PMC Article
Perlman SJ, Mar S
Adv Exp Med Biol 2012;724:154-71. doi: 10.1007/978-1-4614-0653-2_13. PMID: 22411242
Mizuguchi M, Takashima S
Brain Dev 2001 Nov;23(7):508-15. doi: 10.1016/s0387-7604(01)00304-7. PMID: 11701246

Clinical prediction guides

Saffari A, Lau T, Tajsharghi H, Karimiani EG, Kariminejad A, Efthymiou S, Zifarelli G, Sultan T, Toosi MB, Sedighzadeh S, Siu VM, Ortigoza-Escobar JD, AlShamsi AM, Ibrahim S, Al-Sannaa NA, Al-Hertani W, Sandra W, Tarnopolsky M, Alavi S, Li C, Day-Salvatore DL, Martínez-González MJ, Levandoski KM, Bedoukian E, Madan-Khetarpal S, Idleburg MJ, Menezes MJ, Siddharth A, Platzer K, Oppermann H, Smitka M, Collins F, Lek M, Shahrooei M, Ghavideldarestani M, Herman I, Rendu J, Faure J, Baker J, Bhambhani V, Calderwood L, Akhondian J, Imannezhad S, Mirzadeh HS, Hashemi N, Doosti M, Safi M, Ahangari N, Torbati PN, Abedini S, Salpietro V, Gulec EY, Eshaghian S, Ghazavi M, Pascher MT, Vogel M, Abicht A, Moutton S, Bruel AL, Rieubland C, Gallati S, Strom TM, Lochmüller H, Mohammadi MH, Alvi JR, Zackai EH, Keena BA, Skraban CM, Berger SI, Andrew EH, Rahimian E, Morrow MM, Wentzensen IM, Millan F, Henderson LB, Dafsari HS, Jungbluth H, Gomez-Ospina N, McRae A, Peter M, Veltra D, Marinakis NM, Sofocleous C, Ashrafzadeh F, Pehlivan D, Lemke JR, Melki J, Benezit A, Bauer P, Weis D, Lupski JR, Senderek J, Christodoulou J, Chung WK, Goodchild R, Offiah AC, Moreno-De-Luca A, Suri M, Ebrahimi-Fakhari D, Houlden H, Maroofian R
Brain 2023 Aug 1;146(8):3273-3288. doi: 10.1093/brain/awad039. PMID: 36757831Free PMC Article
Shan F, Long Y, Qiu W
Front Immunol 2018;9:2802. Epub 2018 Dec 5 doi: 10.3389/fimmu.2018.02802. PMID: 30568655Free PMC Article
Smits M
Br J Radiol 2016;89(1060):20150857. Epub 2016 Feb 5 doi: 10.1259/bjr.20150857. PMID: 26849038Free PMC Article
Finch E, Copland DA
NeuroRehabilitation 2014;34(3):499-514. doi: 10.3233/NRE-141053. PMID: 24448877
Bien CG, Vincent A
Handb Clin Neurol 2013;111:521-31. doi: 10.1016/B978-0-444-52891-9.00055-5. PMID: 23622200

Recent systematic reviews

Akkus S, Elkhooly M, Amatya S, Shrestha K, Sharma K, Kagzi Y, Khan E, Gupta R, Piquet AL, Jaiswal S, Wen S, Tapia M, Samant R, Sista SR, Sriwastava S
J Neurol Sci 2023 Nov 15;454:120830. Epub 2023 Oct 9 doi: 10.1016/j.jns.2023.120830. PMID: 37856996
Mofatteh M, Mashayekhi MS, Arfaie S, Chen Y, Hendi K, Kwan ATH, Honarvar F, Solgi A, Liao X, Ashkan K
Neurosurgery 2023 Feb 1;92(2):225-240. Epub 2022 Nov 18 doi: 10.1227/neu.0000000000002224. PMID: 36580643Free PMC Article
Gaebe K, Li AY, Park A, Parmar A, Lok BH, Sahgal A, Chan KKW, Erickson AW, Das S
Lancet Oncol 2022 Jul;23(7):931-939. Epub 2022 May 26 doi: 10.1016/S1470-2045(22)00271-6. PMID: 35644163
Cocquyt EM, Lanckmans E, van Mierlo P, Duyck W, Szmalec A, Santens P, De Letter M
Neuropsychologia 2020 Jan;136:107182. Epub 2019 Sep 27 doi: 10.1016/j.neuropsychologia.2019.107182. PMID: 31568774
Finch E, Copland DA
NeuroRehabilitation 2014;34(3):499-514. doi: 10.3233/NRE-141053. PMID: 24448877

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