Congenital porencephaly

MedGen UID:: 488842
•Concept ID:: C0302892
•: Congenital Abnormality

Synonyms:	Congenital Porencephaly; Porencephaly, Congenital
SNOMED CT:	Congenital porencephaly (38353004); Congenital porencephalia (38353004); Congenital cerebral porosis (38353004)

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 ORPHANET]

Professional guidelines

PubMed

Prenatal diagnosis of familial porencephaly associated with fetal stroke.

Shields AD, Knutzen D, Khan M, Sobh O, Jacobs K
Ultrasound Obstet Gynecol 2023 Jul;62(1):153-154. doi: 10.1002/uog.26168. PMID: 36722041

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

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Recent clinical studies

Etiology

Factor V Leiden and genetic defects of thrombophilia in childhood porencephaly.

Debus O, Koch HG, Kurlemann G, Sträter R, Vielhaber H, Weber P, Nowak-Göttl U
Arch Dis Child Fetal Neonatal Ed 1998 Mar;78(2):F121-4. doi: 10.1136/fn.78.2.f121. PMID: 9577282 Free PMC Article

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Diagnosis

Temporal lobectomy in congenital porencephaly associated with hippocampal sclerosis.

Burneo JG, Faught E, Knowlton RC, Martin RC, Bebin M, Morawetz R, Kuzniecky R
Arch Neurol 2003 Jun;60(6):830-4. doi: 10.1001/archneur.60.6.830. PMID: 12810487

Factor V Leiden and genetic defects of thrombophilia in childhood porencephaly.

Debus O, Koch HG, Kurlemann G, Sträter R, Vielhaber H, Weber P, Nowak-Göttl U
Arch Dis Child Fetal Neonatal Ed 1998 Mar;78(2):F121-4. doi: 10.1136/fn.78.2.f121. PMID: 9577282 Free PMC Article

Congenital porencephaly: MR features and relationship to hippocampal sclerosis.

Ho SS, Kuzniecky RI, Gilliam F, Faught E, Bebin M, Morawetz R
AJNR Am J Neuroradiol 1998 Jan;19(1):135-41. PMID: 9432171 Free PMC Article

Congenital porencephaly.

Nixon GW, Johns RE Jr, Myers GG
Pediatrics 1974 Jul;54(1):43-50. PMID: 4834300

Congenital porencephaly.

Rahaju NN, Suharjono, Tjan Toan Giap
Paediatr Indones 1968 Mar-Apr;8(2):70-5. PMID: 5300893

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