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Porencephaly

MedGen UID:
901502
•Concept ID:
C4082173
•
Disease or Syndrome
Synonym: Porencephalies
Modes of inheritance:
Non-Mendelian inheritance
MedGen UID:
109109
•Concept ID:
C0600599
•
Genetic Function
Source: Orphanet
A mode of inheritance that depends on genetic determinants in more than one gene.
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Non-Mendelian inheritance (Orphanet)
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0017410
Orphanet: ORPHA2940

Definition

A rare, genetic or acquired, cerebral malformation characterized by an intracerebral fluid-filled cyst or cavity with or without communication between the ventricle and subarachnoid space. Clinical manifestations depend on location and severity and may include hemiparesis, seizures, intellectual disability, and dystonia. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Porencephaly

Professional guidelines

PubMed

Prenatal Diagnosis of COL4A1 Mutations in Eight Cases: Further Delineation of the Neurohistopathological Phenotype.
Gubana F, Christov C, Coste T, Tournier-Lasserve E, Benachi A, Fallet-Bianco C, Encha-Razavi F, Martinovic J
Pediatr Dev Pathol 2022 Jul-Aug;25(4):435-446. Epub 2022 Apr 5 doi: 10.1177/10935266221080134. PMID: 35382634
Abnormalities of the Fetal Central Nervous System: Prenatal US Diagnosis with Postnatal Correlation.
Cater SW, Boyd BK, Ghate SV
Radiographics 2020 Sep-Oct;40(5):1458-1472. Epub 2020 Jul 24 doi: 10.1148/rg.2020200034. PMID: 32706613
Management of fetal and neonatal alloimmune thrombocytopenia.
Forestier F, Hohlfeld P
Biol Neonate 1998 Dec;74(6):395-401. doi: 10.1159/000014060. PMID: 9784630

Recent clinical studies

Etiology

Spectrum of Fetal Intraparenchymal Hemorrhage in COL4A1/A2-Related Disorders.
George E, Vassar R, Mogga A, Li Y, Norton ME, Gano D, Glenn OA
Pediatr Neurol 2023 Oct;147:63-67. Epub 2023 Jul 18 doi: 10.1016/j.pediatrneurol.2023.07.008. PMID: 37562171
Schizencephaly in Hereditary Hemorrhagic Telangiectasia.
Gaines JJ, Gilbert BC, Gossage JR, Parker W, Reddy A, Forseen SE
AJNR Am J Neuroradiol 2022 Nov;43(11):1603-1607. Epub 2022 Oct 20 doi: 10.3174/ajnr.A7677. PMID: 36265891Free PMC Article
Neuroimaging Perspectives of Perinatal Arterial Ischemic Stroke.
Biswas A, Mankad K, Shroff M, Hanagandi P, Krishnan P
Pediatr Neurol 2020 Dec;113:56-65. Epub 2020 Aug 22 doi: 10.1016/j.pediatrneurol.2020.08.011. PMID: 33038575
The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.
Meuwissen ME, Halley DJ, Smit LS, Lequin MH, Cobben JM, de Coo R, van Harssel J, Sallevelt S, Woldringh G, van der Knaap MS, de Vries LS, Mancini GM
Genet Med 2015 Nov;17(11):843-53. Epub 2015 Feb 26 doi: 10.1038/gim.2014.210. PMID: 25719457
Prenatal stroke.
Govaert P
Semin Fetal Neonatal Med 2009 Oct;14(5):250-66. Epub 2009 Aug 6 doi: 10.1016/j.siny.2009.07.008. PMID: 19664975

Diagnosis

Neuroimaging Perspectives of Perinatal Arterial Ischemic Stroke.
Biswas A, Mankad K, Shroff M, Hanagandi P, Krishnan P
Pediatr Neurol 2020 Dec;113:56-65. Epub 2020 Aug 22 doi: 10.1016/j.pediatrneurol.2020.08.011. PMID: 33038575
Phenotypic characterization of COL4A1-related West syndrome.
Wang QH, Zou LP, Zhang MN, Wang YY, Lu Q, Shen YW, He W, Chen HM, Luo XM, Wang J, Zhang TT
Epilepsy Res 2020 Aug;164:106349. Epub 2020 May 5 doi: 10.1016/j.eplepsyres.2020.106349. PMID: 32446163
Fetal cytomegalovirus infection.
Leruez-Ville M, Ville Y
Best Pract Res Clin Obstet Gynaecol 2017 Jan;38:97-107. Epub 2016 Oct 20 doi: 10.1016/j.bpobgyn.2016.10.005. PMID: 27923540
The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.
Meuwissen ME, Halley DJ, Smit LS, Lequin MH, Cobben JM, de Coo R, van Harssel J, Sallevelt S, Woldringh G, van der Knaap MS, de Vries LS, Mancini GM
Genet Med 2015 Nov;17(11):843-53. Epub 2015 Feb 26 doi: 10.1038/gim.2014.210. PMID: 25719457
Prenatal stroke.
Govaert P
Semin Fetal Neonatal Med 2009 Oct;14(5):250-66. Epub 2009 Aug 6 doi: 10.1016/j.siny.2009.07.008. PMID: 19664975

Therapy

Phenytoin-induced dyskinesia: a case report.
Shah KC, Patel NS, Vasani P, Khadela A, Chavda VP, Vora L
J Med Case Rep 2023 Jul 21;17(1):313. doi: 10.1186/s13256-023-04033-6. PMID: 37475012Free PMC Article
An Iatrogenic Model of Brain Small-Vessel Disease: Post-Radiation Encephalopathy.
Moretti R, Caruso P
Int J Mol Sci 2020 Sep 5;21(18) doi: 10.3390/ijms21186506. PMID: 32899565Free PMC Article
Risk factors and results of hemispherotomy reoperations in children.
Volpon Santos M, Teixeira TL, Ioriatti ES, Thome U, Paula de Andrade Hamad A, Machado HR
Neurosurg Focus 2020 Apr 1;48(4):E5. doi: 10.3171/2020.1.FOCUS19944. PMID: 32234979
Fetal cytomegalovirus infection.
Leruez-Ville M, Ville Y
Best Pract Res Clin Obstet Gynaecol 2017 Jan;38:97-107. Epub 2016 Oct 20 doi: 10.1016/j.bpobgyn.2016.10.005. PMID: 27923540
Puncture porencephaly.
Lorber J
Dev Med Child Neurol 1968 Apr;10(2):233-4. doi: 10.1111/j.1469-8749.1968.tb02873.x. PMID: 5301286

Prognosis

Vein of Galen Aneurysmal Malformation.
Society for Maternal-Fetal Medicine, Monteagudo A
Am J Obstet Gynecol 2020 Dec;223(6):B27-B29. Epub 2020 Nov 7 doi: 10.1016/j.ajog.2020.08.181. PMID: 33168212
Neuroimaging Perspectives of Perinatal Arterial Ischemic Stroke.
Biswas A, Mankad K, Shroff M, Hanagandi P, Krishnan P
Pediatr Neurol 2020 Dec;113:56-65. Epub 2020 Aug 22 doi: 10.1016/j.pediatrneurol.2020.08.011. PMID: 33038575
Fetal cytomegalovirus infection.
Leruez-Ville M, Ville Y
Best Pract Res Clin Obstet Gynaecol 2017 Jan;38:97-107. Epub 2016 Oct 20 doi: 10.1016/j.bpobgyn.2016.10.005. PMID: 27923540
The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.
Meuwissen ME, Halley DJ, Smit LS, Lequin MH, Cobben JM, de Coo R, van Harssel J, Sallevelt S, Woldringh G, van der Knaap MS, de Vries LS, Mancini GM
Genet Med 2015 Nov;17(11):843-53. Epub 2015 Feb 26 doi: 10.1038/gim.2014.210. PMID: 25719457
Fetal porencephaly: a review of etiology, diagnosis, and prognosis.
Eller KM, Kuller JA
Obstet Gynecol Surv 1995 Sep;50(9):684-7. doi: 10.1097/00006254-199509000-00023. PMID: 7478420

Clinical prediction guides

Prenatal clinical manifestations in individuals with COL4A1/2 variants.
Itai T, Miyatake S, Taguri M, Nozaki F, Ohta M, Osaka H, Morimoto M, Tandou T, Nohara F, Takami Y, Yoshioka F, Shimokawa S, Okuno-Yuguchi J, Motobayashi M, Takei Y, Fukuyama T, Kumada S, Miyata Y, Ogawa C, Maki Y, Togashi N, Ishikura T, Kinoshita M, Mitani Y, Kanemura Y, Omi T, Ando N, Hattori A, Saitoh S, Kitai Y, Hirai S, Arai H, Ishida F, Taniguchi H, Kitabatake Y, Ozono K, Nabatame S, Smigiel R, Kato M, Tanda K, Saito Y, Ishiyama A, Noguchi Y, Miura M, Nakano T, Hirano K, Honda R, Kuki I, Takanashi JI, Takeuchi A, Fukasawa T, Seiwa C, Harada A, Yachi Y, Higashiyama H, Terashima H, Kumagai T, Hada S, Abe Y, Miyagi E, Uchiyama Y, Fujita A, Imagawa E, Azuma Y, Hamanaka K, Koshimizu E, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Tsurusaki Y, Doi H, Nakashima M, Saitsu H, Matsumoto N
J Med Genet 2021 Aug;58(8):505-513. Epub 2020 Jul 30 doi: 10.1136/jmedgenet-2020-106896. PMID: 32732225
An Iatrogenic Model of Brain Small-Vessel Disease: Post-Radiation Encephalopathy.
Moretti R, Caruso P
Int J Mol Sci 2020 Sep 5;21(18) doi: 10.3390/ijms21186506. PMID: 32899565Free PMC Article
Fetal cytomegalovirus infection.
Leruez-Ville M, Ville Y
Best Pract Res Clin Obstet Gynaecol 2017 Jan;38:97-107. Epub 2016 Oct 20 doi: 10.1016/j.bpobgyn.2016.10.005. PMID: 27923540
The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.
Meuwissen ME, Halley DJ, Smit LS, Lequin MH, Cobben JM, de Coo R, van Harssel J, Sallevelt S, Woldringh G, van der Knaap MS, de Vries LS, Mancini GM
Genet Med 2015 Nov;17(11):843-53. Epub 2015 Feb 26 doi: 10.1038/gim.2014.210. PMID: 25719457
Unilateral diplophthalmos.
Stefani FH, Hausmann N, Lund OE
Am J Ophthalmol 1991 Nov 15;112(5):581-6. doi: 10.1016/s0002-9394(14)76862-x. PMID: 1951597

Recent systematic reviews

COL4A1 mutations as a monogenic cause of cerebral small vessel disease: a systematic review.
Lanfranconi S, Markus HS
Stroke 2010 Aug;41(8):e513-8. Epub 2010 Jun 17 doi: 10.1161/STROKEAHA.110.581918. PMID: 20558831

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