U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Familial porencephaly

MedGen UID:
401353
•Concept ID:
C1867983
•
Disease or Syndrome
Synonym: Familial porencephalic white matter disease
SNOMED CT: Familial porencephalic cyst (1162864000); Familial porencephaly (1162864000)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0020496
OMIM® Phenotypic series: PS175780
Orphanet: ORPHA99810

Definition

Familial porencephaly is part of a group of conditions called the COL4A1-related disorders. The conditions in this group have a range of signs and symptoms that involve fragile blood vessels. In familial porencephaly, fluid-filled cysts develop in the brain (porencephaly) during fetal development or soon after birth. These cysts typically occur in only one side of the brain and vary in size. The cysts are thought to be the result of bleeding within the brain (hemorrhagic stroke). People with this condition also have leukoencephalopathy, which is a change in a type of brain tissue called white matter that can be seen with magnetic resonance imaging (MRI).

During infancy, people with familial porencephaly typically have paralysis affecting one side of the body (infantile hemiplegia). Affected individuals may also have recurrent seizures (epilepsy), migraine headaches, speech problems, intellectual disability, and uncontrolled muscle tensing (dystonia). Some people are severely affected, and others may have no symptoms related to the brain cysts. [from MedlinePlus Genetics]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial porencephaly
Follow this link to review classifications for Familial porencephaly in 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

Recent clinical studies

Etiology

Infantile hemiparesis and porencephaly due to a COL4A1 mutation: Gould syndrome.
Burns A, Hug J
BMJ Case Rep 2024 Feb 14;17(2) doi: 10.1136/bcr-2023-259103. PMID: 38355202Free PMC Article
COL4A2 mutation associated with familial porencephaly and small-vessel disease.
Verbeek E, Meuwissen ME, Verheijen FW, Govaert PP, Licht DJ, Kuo DS, Poulton CJ, Schot R, Lequin MH, Dudink J, Halley DJ, de Coo RI, den Hollander JC, Oegema R, Gould DB, Mancini GM
Eur J Hum Genet 2012 Aug;20(8):844-51. Epub 2012 Feb 15 doi: 10.1038/ejhg.2012.20. PMID: 22333902Free PMC Article
Hereditary porencephaly: clinical and MRI findings in two Dutch families.
Mancini GM, de Coo IF, Lequin MH, Arts WF
Eur J Paediatr Neurol 2004;8(1):45-54. doi: 10.1016/j.ejpn.2003.10.002. PMID: 15023374
Familial porencephaly.
Berg RA, Aleck KA, Kaplan AM
Arch Neurol 1983 Sep;40(9):567-9. doi: 10.1001/archneur.1983.04050080067013. PMID: 6615288

Diagnosis

Infantile hemiparesis and porencephaly due to a COL4A1 mutation: Gould syndrome.
Burns A, Hug J
BMJ Case Rep 2024 Feb 14;17(2) doi: 10.1136/bcr-2023-259103. PMID: 38355202Free PMC Article
COL4A2 mutation associated with familial porencephaly and small-vessel disease.
Verbeek E, Meuwissen ME, Verheijen FW, Govaert PP, Licht DJ, Kuo DS, Poulton CJ, Schot R, Lequin MH, Dudink J, Halley DJ, de Coo RI, den Hollander JC, Oegema R, Gould DB, Mancini GM
Eur J Hum Genet 2012 Aug;20(8):844-51. Epub 2012 Feb 15 doi: 10.1038/ejhg.2012.20. PMID: 22333902Free PMC Article
Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly.
Breedveld G, de Coo IF, Lequin MH, Arts WF, Heutink P, Gould DB, John SW, Oostra B, Mancini GM
J Med Genet 2006 Jun;43(6):490-5. Epub 2005 Aug 17 doi: 10.1136/jmg.2005.035584. PMID: 16107487Free PMC Article
Hereditary porencephaly: clinical and MRI findings in two Dutch families.
Mancini GM, de Coo IF, Lequin MH, Arts WF
Eur J Paediatr Neurol 2004;8(1):45-54. doi: 10.1016/j.ejpn.2003.10.002. PMID: 15023374

Prognosis

Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly.
Breedveld G, de Coo IF, Lequin MH, Arts WF, Heutink P, Gould DB, John SW, Oostra B, Mancini GM
J Med Genet 2006 Jun;43(6):490-5. Epub 2005 Aug 17 doi: 10.1136/jmg.2005.035584. PMID: 16107487Free PMC Article
Hereditary porencephaly: clinical and MRI findings in two Dutch families.
Mancini GM, de Coo IF, Lequin MH, Arts WF
Eur J Paediatr Neurol 2004;8(1):45-54. doi: 10.1016/j.ejpn.2003.10.002. PMID: 15023374

Clinical prediction guides

COL4A2 mutation associated with familial porencephaly and small-vessel disease.
Verbeek E, Meuwissen ME, Verheijen FW, Govaert PP, Licht DJ, Kuo DS, Poulton CJ, Schot R, Lequin MH, Dudink J, Halley DJ, de Coo RI, den Hollander JC, Oegema R, Gould DB, Mancini GM
Eur J Hum Genet 2012 Aug;20(8):844-51. Epub 2012 Feb 15 doi: 10.1038/ejhg.2012.20. PMID: 22333902Free PMC Article
Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome.
Alamowitch S, Plaisier E, Favrole P, Prost C, Chen Z, Van Agtmael T, Marro B, Ronco P
Neurology 2009 Dec 1;73(22):1873-82. doi: 10.1212/WNL.0b013e3181c3fd12. PMID: 19949034Free PMC Article
Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly.
Breedveld G, de Coo IF, Lequin MH, Arts WF, Heutink P, Gould DB, John SW, Oostra B, Mancini GM
J Med Genet 2006 Jun;43(6):490-5. Epub 2005 Aug 17 doi: 10.1136/jmg.2005.035584. PMID: 16107487Free PMC Article
Hereditary porencephaly: clinical and MRI findings in two Dutch families.
Mancini GM, de Coo IF, Lequin MH, Arts WF
Eur J Paediatr Neurol 2004;8(1):45-54. doi: 10.1016/j.ejpn.2003.10.002. PMID: 15023374

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...