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Cerebral subcortical cyst

MedGen UID:
1054415
Concept ID:
CN377293
Finding
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
Riva M, Bello L
Curr Opin Oncol 2014 Nov;26(6):615-21. doi: 10.1097/CCO.0000000000000120. PMID: 25279963

Recent clinical studies

Etiology

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
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
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
Tate MC
Cancer Treat Res 2015;163:31-47. doi: 10.1007/978-3-319-12048-5_3. PMID: 25468224
Perlman SJ, Mar S
Adv Exp Med Biol 2012;724:154-71. doi: 10.1007/978-1-4614-0653-2_13. PMID: 22411242

Diagnosis

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
Tate MC
Cancer Treat Res 2015;163:31-47. doi: 10.1007/978-3-319-12048-5_3. PMID: 25468224
Perlman SJ, Mar S
Adv Exp Med Biol 2012;724:154-71. doi: 10.1007/978-1-4614-0653-2_13. PMID: 22411242
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
Amani O, Mazaheri MA, Moghani MM, Zarani F, Choolabi RH
Cancer Rep (Hoboken) 2024 Feb;7(2):e1989. doi: 10.1002/cnr2.1989. PMID: 38351543Free PMC Article
Baltodano-Calle MJ, Onton-Díaz M, Gonzales GF
Andrologia 2022 Nov;54(10):e14561. Epub 2022 Aug 22 doi: 10.1111/and.14561. PMID: 35995581
Palmisciano P, Haider AS, Balasubramanian K, Dadario NB, Robertson FC, Silverstein JW, D'Amico RS
World Neurosurg 2022 Sep;165:160-171.e2. Epub 2022 Jun 22 doi: 10.1016/j.wneu.2022.06.080. PMID: 35752423
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

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
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
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

Clinical prediction guides

Coletta L, Avesani P, Zigiotto L, Venturini M, Annicchiarico L, Vavassori L, Ng S, Duffau H, Sarubbo S
Brain 2024 Mar 1;147(3):1100-1111. doi: 10.1093/brain/awad402. PMID: 38048613Free PMC Article
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
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

Mofatteh M, Mashayekhi MS, Arfaie S, Wei H, Kazerouni A, Skandalakis GP, Pour-Rashidi A, Baiad A, Elkaim L, Lam J, Palmisciano P, Su X, Liao X, Das S, Ashkan K, Cohen-Gadol AA
Neurosurg Rev 2023 Nov 1;46(1):290. doi: 10.1007/s10143-023-02187-x. PMID: 37910275Free PMC Article
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, Mirza AB, Fares J, Bandyopadhyay S, Henich E, Liao X, Bernstein M
Neurosurg Rev 2022 Dec 19;46(1):19. doi: 10.1007/s10143-022-01929-7. PMID: 36529827Free PMC Article
Palmisciano P, Haider AS, Balasubramanian K, Dadario NB, Robertson FC, Silverstein JW, D'Amico RS
World Neurosurg 2022 Sep;165:160-171.e2. Epub 2022 Jun 22 doi: 10.1016/j.wneu.2022.06.080. PMID: 35752423
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

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