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Abnormal choroid plexus morphology

MedGen UID:
1783909
•Concept ID:
C5539405
•
Anatomical Abnormality
Synonym: Abnormality of the choroid plexus
 
HPO: HP:0007376

Definition

An abnormality of the choroid plexus, which is the area in the cerebral ventricles in which cerebrospinal fluid is produced by modified ependymal cells. [from HPO]

Professional guidelines

PubMed

Society for Maternal-Fetal Medicine Consult Series #57: Evaluation and management of isolated soft ultrasound markers for aneuploidy in the second trimester: (Replaces Consults #10, Single umbilical artery, October 2010; #16, Isolated echogenic bowel diagnosed on second-trimester ultrasound, August 2011; #17, Evaluation and management of isolated renal pelviectasis on second-trimester ultrasound, December 2011; #25, Isolated fetal choroid plexus cysts, April 2013; #27, Isolated echogenic intracardiac focus, August 2013).
Society for Maternal-Fetal Medicine (SMFM). Electronic address: pubs@smfm.org, Prabhu M, Kuller JA, Biggio JR
Am J Obstet Gynecol 2021 Oct;225(4):B2-B15. Epub 2021 Jun 23 doi: 10.1016/j.ajog.2021.06.079. PMID: 34171388
Hindbrain morphometry and choroid plexus position in differential diagnosis of posterior fossa cystic malformations.
Paladini D, Donarini G, Parodi S, Volpe G, Sglavo G, Fulcheri E
Ultrasound Obstet Gynecol 2019 Aug;54(2):207-214. doi: 10.1002/uog.20120. PMID: 30207001
Our clinical experience about prenatal diagnosis and neonatal outcomes of fetal central nervous system anomalies.
Ozkan ZS, Gilgin H, Aygün HB, Deveci D, Simşek M, Kumru S, Yüce H
J Matern Fetal Neonatal Med 2011 Mar;24(3):502-5. Epub 2010 Sep 1 doi: 10.3109/14767058.2010.501125. PMID: 20807159

Recent clinical studies

Etiology

Refining the Neuroimaging Definition of the Dandy-Walker Phenotype.
Whitehead MT, Barkovich MJ, Sidpra J, Alves CA, Mirsky DM, Öztekin Ö, Bhattacharya D, Lucato LT, Sudhakar S, Taranath A, Andronikou S, Prabhu SP, Aldinger KA, Haldipur P, Millen KJ, Barkovich AJ, Boltshauser E, Dobyns WB, Mankad K
AJNR Am J Neuroradiol 2022 Oct;43(10):1488-1493. Epub 2022 Sep 22 doi: 10.3174/ajnr.A7659. PMID: 36137655Free PMC Article
Society for Maternal-Fetal Medicine Consult Series #57: Evaluation and management of isolated soft ultrasound markers for aneuploidy in the second trimester: (Replaces Consults #10, Single umbilical artery, October 2010; #16, Isolated echogenic bowel diagnosed on second-trimester ultrasound, August 2011; #17, Evaluation and management of isolated renal pelviectasis on second-trimester ultrasound, December 2011; #25, Isolated fetal choroid plexus cysts, April 2013; #27, Isolated echogenic intracardiac focus, August 2013).
Society for Maternal-Fetal Medicine (SMFM). Electronic address: pubs@smfm.org, Prabhu M, Kuller JA, Biggio JR
Am J Obstet Gynecol 2021 Oct;225(4):B2-B15. Epub 2021 Jun 23 doi: 10.1016/j.ajog.2021.06.079. PMID: 34171388
Vascular abnormalities in uveitis.
Ebrahimiadib N, Maleki A, Fadakar K, Manhapra A, Ghassemi F, Foster CS
Surv Ophthalmol 2021 Jul-Aug;66(4):653-667. Epub 2021 Jan 5 doi: 10.1016/j.survophthal.2020.12.006. PMID: 33412171
Choroid Plexus Enlargement and Allostatic Load in Schizophrenia.
Zhou YF, Huang JC, Zhang P, Fan FM, Chen S, Fan HZ, Cui YM, Luo XG, Tan SP, Wang ZR, Feng W, Yuan Y, Yang FD, Savransky A, Ryan M, Goldwaser E, Chiappelli J, Rowland LM, Kochunov P, Tan YL, Hong LE
Schizophr Bull 2020 Apr 10;46(3):722-731. doi: 10.1093/schbul/sbz100. PMID: 31603232Free PMC Article
Choroid plexus cysts and aneuploidy.
Peleg D, Yankowitz J
J Med Genet 1998 Jul;35(7):554-7. doi: 10.1136/jmg.35.7.554. PMID: 9678699Free PMC Article

Diagnosis

Refining the Neuroimaging Definition of the Dandy-Walker Phenotype.
Whitehead MT, Barkovich MJ, Sidpra J, Alves CA, Mirsky DM, Öztekin Ö, Bhattacharya D, Lucato LT, Sudhakar S, Taranath A, Andronikou S, Prabhu SP, Aldinger KA, Haldipur P, Millen KJ, Barkovich AJ, Boltshauser E, Dobyns WB, Mankad K
AJNR Am J Neuroradiol 2022 Oct;43(10):1488-1493. Epub 2022 Sep 22 doi: 10.3174/ajnr.A7659. PMID: 36137655Free PMC Article
Distribution of α-Synuclein Aggregation in the Peripheral Tissues.
Li YY, Zhou TT, Zhang Y, Chen NH, Yuan YH
Neurochem Res 2022 Dec;47(12):3627-3634. Epub 2022 Mar 28 doi: 10.1007/s11064-022-03586-0. PMID: 35348944
Society for Maternal-Fetal Medicine Consult Series #57: Evaluation and management of isolated soft ultrasound markers for aneuploidy in the second trimester: (Replaces Consults #10, Single umbilical artery, October 2010; #16, Isolated echogenic bowel diagnosed on second-trimester ultrasound, August 2011; #17, Evaluation and management of isolated renal pelviectasis on second-trimester ultrasound, December 2011; #25, Isolated fetal choroid plexus cysts, April 2013; #27, Isolated echogenic intracardiac focus, August 2013).
Society for Maternal-Fetal Medicine (SMFM). Electronic address: pubs@smfm.org, Prabhu M, Kuller JA, Biggio JR
Am J Obstet Gynecol 2021 Oct;225(4):B2-B15. Epub 2021 Jun 23 doi: 10.1016/j.ajog.2021.06.079. PMID: 34171388
Vascular abnormalities in uveitis.
Ebrahimiadib N, Maleki A, Fadakar K, Manhapra A, Ghassemi F, Foster CS
Surv Ophthalmol 2021 Jul-Aug;66(4):653-667. Epub 2021 Jan 5 doi: 10.1016/j.survophthal.2020.12.006. PMID: 33412171
Choroid Plexus Enlargement and Allostatic Load in Schizophrenia.
Zhou YF, Huang JC, Zhang P, Fan FM, Chen S, Fan HZ, Cui YM, Luo XG, Tan SP, Wang ZR, Feng W, Yuan Y, Yang FD, Savransky A, Ryan M, Goldwaser E, Chiappelli J, Rowland LM, Kochunov P, Tan YL, Hong LE
Schizophr Bull 2020 Apr 10;46(3):722-731. doi: 10.1093/schbul/sbz100. PMID: 31603232Free PMC Article

Therapy

Structural indices of brain aging in methamphetamine use disorder.
Petzold J, Pochon JF, Ghahremani DG, London ED
Drug Alcohol Depend 2024 Mar 1;256:111107. Epub 2024 Jan 23 doi: 10.1016/j.drugalcdep.2024.111107. PMID: 38330525
Choroid plexus and perivascular space enlargement in neuropsychiatric systemic lupus erythematosus.
Gueye M, Preziosa P, Ramirez GA, Bozzolo EP, Canti V, Margoni M, Meani A, Moiola L, Rovere-Querini P, Manfredi AA, Filippi M, Rocca MA
Mol Psychiatry 2024 Feb;29(2):359-368. Epub 2023 Nov 30 doi: 10.1038/s41380-023-02332-4. PMID: 38036603
Choroid plexus NKCC1 mediates cerebrospinal fluid clearance during mouse early postnatal development.
Xu H, Fame RM, Sadegh C, Sutin J, Naranjo C, Della Syau, Cui J, Shipley FB, Vernon A, Gao F, Zhang Y, Holtzman MJ, Heiman M, Warf BC, Lin PY, Lehtinen MK
Nat Commun 2021 Jan 19;12(1):447. doi: 10.1038/s41467-020-20666-3. PMID: 33469018Free PMC Article
Non-visualization of choroid plexus of fourth ventricle as first-trimester predictor of posterior fossa anomalies and chromosomal defects.
Martinez-Ten P, Illescas T, Adiego B, Estevez M, Bermejo C, Wong AE, Sepulveda W
Ultrasound Obstet Gynecol 2018 Feb;51(2):199-207. Epub 2018 Jan 2 doi: 10.1002/uog.17445. PMID: 28236314
Hydranencephaly: Considering Prolonged Survival and Treatment by Endoscopic Choroid Plexus Coagulation.
Ray C, Mobley J, Thompson M, Nagy L
Turk Neurosurg 2015;25(5):788-92. doi: 10.5137/1019-5149.JTN.10453-14.1. PMID: 26442548

Prognosis

Choroid plexus and perivascular space enlargement in neuropsychiatric systemic lupus erythematosus.
Gueye M, Preziosa P, Ramirez GA, Bozzolo EP, Canti V, Margoni M, Meani A, Moiola L, Rovere-Querini P, Manfredi AA, Filippi M, Rocca MA
Mol Psychiatry 2024 Feb;29(2):359-368. Epub 2023 Nov 30 doi: 10.1038/s41380-023-02332-4. PMID: 38036603
Infantile Choroid Plexus Papilloma with Multiple Peritumoral Cysts.
Horinouchi S, Watanabe T, Takeshima H
World Neurosurg 2022 Jun;162:74-76. Epub 2022 Mar 18 doi: 10.1016/j.wneu.2022.03.068. PMID: 35314414
Choroid plexus separation in fetuses without ventriculomegaly: Natural course and postnatal outcome.
Ipek A, Sayit AT, Idilman IS, Kurt A, Cay N, Unal O, Karabulut E, Keskin HL, Karaoglanoglu M
J Clin Ultrasound 2015 Oct;43(8):478-84. Epub 2015 May 6 doi: 10.1002/jcu.22270. PMID: 25944024
Histochemistry and immunocytochemistry of the developing ependyma and choroid plexus.
Sarnat HB
Microsc Res Tech 1998 Apr 1;41(1):14-28. doi: 10.1002/(SICI)1097-0029(19980401)41:1<14::AID-JEMT3>3.0.CO;2-U. PMID: 9550134
Choroid plexus cysts in the fetus: a benign anatomic variant or pathologic entity? Report of 41 cases and review of the literature.
Chitkara U, Cogswell C, Norton K, Wilkins IA, Mehalek K, Berkowitz RL
Obstet Gynecol 1988 Aug;72(2):185-9. PMID: 3292976

Clinical prediction guides

Choroid plexus and perivascular space enlargement in neuropsychiatric systemic lupus erythematosus.
Gueye M, Preziosa P, Ramirez GA, Bozzolo EP, Canti V, Margoni M, Meani A, Moiola L, Rovere-Querini P, Manfredi AA, Filippi M, Rocca MA
Mol Psychiatry 2024 Feb;29(2):359-368. Epub 2023 Nov 30 doi: 10.1038/s41380-023-02332-4. PMID: 38036603
Morphology and morphometry of the human early foetal brain: A three-dimensional analysis.
Takakuwa T, Shiraishi N, Terashima M, Yamanaka M, Okamoto I, Imai H, Ishizu K, Yamada S, Ishikawa A, Kanahashi T
J Anat 2021 Aug;239(2):498-516. Epub 2021 Mar 23 doi: 10.1111/joa.13433. PMID: 33754346Free PMC Article
Fibromyalgia syndrome and the eye-A review.
Zdebik N, Zdebik A, Bogusławska J, Przeździecka-Dołyk J, Turno-Kręcicka A
Surv Ophthalmol 2021 Jan-Feb;66(1):132-137. Epub 2020 Jun 5 doi: 10.1016/j.survophthal.2020.05.006. PMID: 32512032
Development of brain ventricular system.
Korzh V
Cell Mol Life Sci 2018 Feb;75(3):375-383. Epub 2017 Aug 5 doi: 10.1007/s00018-017-2605-y. PMID: 28780589Free PMC Article
Histochemistry and immunocytochemistry of the developing ependyma and choroid plexus.
Sarnat HB
Microsc Res Tech 1998 Apr 1;41(1):14-28. doi: 10.1002/(SICI)1097-0029(19980401)41:1<14::AID-JEMT3>3.0.CO;2-U. PMID: 9550134

Recent systematic reviews

Symptomatic intraventricular choroid plexus cysts. Illustrative case and systematic review.
Stanishevskiy A, Gavrilov G, Svistov D, Cherebillo V, Kurnukhina M
Neurosurg Rev 2023 Oct 6;46(1):264. doi: 10.1007/s10143-023-02176-0. PMID: 37801091
Psammomatous Cavernous Malformation Presenting as Drug-Resistant Epilepsy: Case Illustration and Review of Literature.
Sharma K, Kalakoti P, Shaughnessy JE, De La Cruz N, Dossani RH, Zhu P, Gonzalez-Toledo E, Ledbetter C, Pinskton JB, Nanda A, Riel-Romero RM, Minagar A, Notarianni C, Sun H
World Neurosurg 2016 Sep;93:120-6. Epub 2016 Jun 7 doi: 10.1016/j.wneu.2016.05.093. PMID: 27283183
Diagnostic value of subependymal pseudocysts and choroid plexus cysts on neonatal cerebral ultrasound: a meta-analysis.
Fernandez Alvarez JR, Amess PN, Gandhi RS, Rabe H
Arch Dis Child Fetal Neonatal Ed 2009 Nov;94(6):F443-6. Epub 2009 Mar 25 doi: 10.1136/adc.2008.155028. PMID: 19321510

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