Porencephaly

Cortical malformations characterized by white matter-lined cleft or cyst associated with ISCHEMIA and hemorrhagic insults. Symptoms include delayed growth and development, HYPOTONIA; SEIZURES; SPASTIC HEMIPLEGIA and MACROCEPHALY; MICROCEPHALY; or HYDROCEPHALUS. Mutations in the genes encoding COLLAGEN TYPE IV are associated with familial types.

Also Known As:

Autosomal Dominant Porencephaly Type 1; Brain Small Vessel Disease With Axenfeld-Rieger Anomaly; Brain Small Vessel Disease with Hemorrhage; Brain Small-Vessel Disease with Hemorrhage; Col4a1-Related Brain Small-Vessel Disease; Congenital Porencephaly; Developmental Porencephaly; Encephaloclastic Porencephaly; Familial Porencephalic White Matter Disease; Familial Porencephaly; Infantile Hemiplegia with Porencephaly; Porencephaly Type 1; Porencephaly, Familial; Porencephaly, Type 1; Porencephaly, Type 1, Autosomal Dominant; Post-traumatic Porencephaly; Retinal Arteriolar Tortuosity, Infantile Hemiparesis, and Leukoencephalopathy, Autosomal Dominant; Brain Small Vessel Disease With Axenfeld Rieger Anomaly; Col4a1 Related Brain Small Vessel Disease; Leukoencephalopathy with Axenfeld Rieger Anomaly; Porencephalies; Porencephalies, Post-traumatic; Porencephalies, Posttraumatic; Porencephaly, Congenital; Porencephaly, Developmental; Porencephaly, Encephaloclastic; Porencephaly, Post-traumatic; Porencephaly, Posttraumatic; Post traumatic Porencephaly; Post-traumatic Porencephalies; Posttraumatic Porencephalies; Type 1 Porencephaly; Leukoencephalopathy with Axenfeld-Rieger Anomaly; Posttraumatic Porencephaly

Networked: 64 relevant articles (0 outcomes, 2 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Schizencephaly
2.	Cerebral Hemorrhage
3.	Leukoencephalopathies
4.	Hydrocephalus (Hydrocephaly)
5.	Stroke (Strokes)

Experts

1.	Arai, Hiroshi: 3 articles (12/2016 - 01/2012)
2.	Haginoya, Kazuhiro: 3 articles (12/2016 - 01/2012)
3.	Hudson, Billy G: 2 articles (01/2018 - 05/2008)
4.	Kumakura, Akira: 2 articles (12/2016 - 01/2013)
5.	Van Agtmael, Tom: 2 articles (01/2014 - 03/2010)
6.	Doi, Hiroshi: 2 articles (01/2013 - 01/2012)
7.	Kato, Mitsuhiro: 2 articles (01/2013 - 01/2012)
8.	Matsumoto, Naomichi: 2 articles (01/2013 - 01/2012)
9.	Miyake, Noriko: 2 articles (01/2013 - 01/2012)
10.	Osaka, Hitoshi: 2 articles (01/2013 - 01/2012)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Porencephaly:

1.	Collagen Type IV (Type IV Collagen)IBA 01/13/2012 - "Our study confirmed that abnormalities of the α1α1α2 heterotrimers of type IV collagen cause porencephaly and stresses the importance of screening for COL4A2 as well as for COL4A1." 01/01/2019 - "Mutations in the COLGALT1 gene cause cerebral small vessel abnormality and porencephaly, which are common in collagen type IV deficiency. " 01/13/2012 - "De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly." 08/01/2012 - "Familial porencephaly, leukoencephalopathy and small-vessel disease belong to the spectrum of disorders ascribed to dominant mutations in the gene encoding for type IV collagen alpha-1 (COL4A1). " 08/01/2010 - "Mutations in the COL4A1 gene encoding the type IV collagen alpha 1 chain, which are already associated with porencephaly and infantile hemiparesis, have been recently recognized as a further monogenic cause of small vessel disease that can present in adulthood. "
2.	CollagenIBA 01/15/2014 - "Here, we report the identification of a novel dominant G702D mutation in the collagen domain of COL4A2 (collagen IV alpha chain 2) in a family displaying porencephaly with reduced penetrance. " 01/13/2012 - "Here we report on two individuals with porencephaly caused by a heterozygous missense mutation in COL4A2, which encodes the type IV α2 collagen chain. " 01/13/2012 - "De novo or inherited heterozygous mutations in COL4A1, which encodes the type IV α1 collagen chain that is essential for structural integrity for vascular basement membranes, have been reported in individuals with porencephaly. " 02/01/2011 - "Mutations in the gene COL4A1, encoding collagen IV A1, are associated with familial porencephaly. " 03/01/2006 - "We examined a family with autosomal dominant porencephaly, in whom a defect in collagen IV A1 was detected recently. "
3.	Retinaldehyde (Retinal)IBA 01/01/2022 - "This is an extremely rare case of porencephaly and congenital optic nerve hypoplasia, along with independent retinal thinning." 01/01/2017 - "Neonates and children may present with porencephaly, intracerebral hemorrhage, or hemiparesis, whereas adults tend to develop intracranial aneurysms or retinal arteriolar tortuosities. " 01/01/2015 - "COL4A1-associated disorders encompass a wide range of hereditary vasculopathy, including porencephaly and HANAC (adult-onset hemorrhagic stroke with cerebral aneurysm and retinal arterial tortuosity, renal cysts, and thenar muscle cramp). " 05/01/2008 - "Since 2005, several neurological diseases, including porencephaly, leukoencephalopathy and intracerebral hemorrhage without hypertension, and retinal arteriolar tortuosity have been linked to mutations in the COL4A1 gene, which encodes the alpha1 chain of type IV collagen, the main constituent of basement membranes. "
4.	Proteins (Proteins, Gene)FDA Link 08/01/2005 - "A subset of five samples had extremely low mRNA, protein, and catalytic activity, possibly due to pathology affecting fetal viability (anencephaly, porencephaly). " 01/01/1984 - "Complications were defined as ventriculitis (positive CSF cultures with elevated protein, depressed glucose and inflammatory cells), anoxia, poorly controlled hydrocephalus or other CNS anomalies such as porencephaly. " 05/15/2015 - "Mutations in COL4A1, encoding one of the six collagen type IV proteins, cover a wide spectrum of autosomal dominant overlapping phenotypes including porencephaly, small-vessel disease and hemorrhagic stroke, leukoencephalopathy, hereditary angiopathy with nephropathy, aneurysms and muscle cramp (HANAC) syndrome, and Walker-Warburg syndrome. "
5.	IsotopesIBA 07/01/1978 - "Both patients were shown to have porencephaly by isotope cisternography and computed tomography (CT) scans. " 10/01/1972 - "The diagnosis of porencephaly by isotope cisternography is described. " 10/01/1972 - "Porencephaly diagnosed by isotope cisternography." 07/01/1975 - "In porencephaly and cerebral agenesis, the isotope demonstrates ventricular reflux and remains in the cystic dilatation indicating abnormal CSF absorption; isotope ventriculography also reveals a delayed CSF absorption and the possible sites of CSF obstruction in Arnold-Chiari malformations and Dandy-Walker syndrome. "
6.	Creatine Kinase (Creatine Phosphokinase)IBA 12/01/2016 - "The patient had several other complications, including porencephaly, epilepsy, elevated serum levels of creatine kinase, and persistent microscopic hematuria. " 12/01/2018 - "Mutations in COL4A1 have been reported in schizencephaly and porencephaly combined with microbleeds or calcifications, often associated with ocular and renal abnormalities, myopathy, elevated creatine kinase levels and haemolytic anaemia. " 01/01/2013 - "COL4A1 mutations were identified in 15 patients (21%, 10 mutations in porencephaly and 5 mutations in schizencephaly), who showed a variety of associated findings, including intracranial calcification, focal cortical dysplasia, pontocerebellar atrophy, ocular abnormalities, myopathy, elevated serum creatine kinase levels, and hemolytic anemia. "
7.	Valproic Acid (Depakote)FDA LinkGeneric 08/01/2012 - "In the porencephaly patients, four of five patients achieved good seizure control with appropriate monotherapy or two-drug therapy including valproate. " 11/01/2000 - "Porencephaly and other specified anomalies of brain, anomalies of face, coarctation of aorta, and limb reduction defects were found to be associated with valproic acid. "
8.	AntigensIBA 05/01/2019 - "The porencephaly was not associated with inflammatory lesions or CPV antigen and was considered to have preceded the neurological signs. " 11/01/2017 - "Among the viable fetuses, two displayed lesions in the central nervous system (porencephaly) in the presence of viral genome and antigen. "
9.	factor V LeidenIBA 08/01/2004 - "The factor V G1691A mutation is a risk for porencephaly: A case-control study." 03/01/1998 - "Factor V Leiden and genetic defects of thrombophilia in childhood porencephaly."
10.	Protein SIBA 03/01/1998 - "The Arg506 to Gln mutation, factor V, protein C, protein S, antithrombin, antiphospholipid antibodies and lipoprotein (a) (Lp(a)) were retrospectively measured in neonates and children with porencephaly (n = 24). "

Therapies and Procedures

1.	Drug Therapy (Chemotherapy) 08/01/2012 - "A trial of rational monotherapy or two-drug therapy may be effective, rather than larger-number polytherapy in many cases, more in porencephaly than schizencephaly." 05/01/2010 - "After surgery, multi-agent chemotherapy and radiation therapy, a brain MRI showed CSF edema and porencephaly in the right frontal white matter. " 08/01/2012 - "In the porencephaly patients, four of five patients achieved good seizure control with appropriate monotherapy or two-drug therapy including valproate. "
2.	Catheters 03/16/2014 - "Cerebrospinal fluid porencephaly is a rare postoperative complication of a ventricular shunt that results from dysfunction of the distal catheter, especially in children with taut ventricles. " 09/01/2001 - "In order that such migration could occur, conditioning factors would be necessary: such as detachment of the shunt at the distal end (technical fault), underlying disease (porencephaly), dynamic factors causing expulsion (abdominal peristaltic movements) dynamic translocation factor (neck movements), dynamic attraction factor (increased CSF reabsorption) and unishunt catheter (offering no resistance to passage through the trepanation orifice)." 05/01/2010 - "Cerebrospinal fluid (CSF) edema and porencephaly are rare postoperative complications of a ventricular shunt that result from obstruction of the distal catheter, especially in children with taut ventricles. "
3.	Therapeutics 05/18/1984 - "II. Amelioration of fetal porencephaly by in utero therapy in nonhuman primates." 01/01/1978 - "In the late post-traumatic period, it has been valuable in defining hydrocephalus, porencephaly and other post-traumatic lesions that have a significant bearing on both therapy and prognosis." 08/01/1993 - "The more significant risk factors for neurodevelopmental impairment were: a) the presence of porencephaly and/or ventricular dilatation on brain ultrasonography; b) head circumference < -2 SD at the end of hospital stay; c) oxygen therapy and hospitalization > 5-6 months. "
4.	Punctures 04/01/1968 - "Puncture porencephaly." 01/01/1968 - "A contribution to puncture porencephaly]." 07/01/1967 - "Puncture porencephaly. "
5.	Ventriculoperitoneal Shunt 11/01/2003 - "In addition, neurologic risk was assessed in the present sample and included the following: intraventricular hemorrhage, echodense lesions, porencephaly, hydrocephalus, ventriculoperitoneal shunt, meningitis, and periventricular leukomalacia. " 03/01/1978 - "After several months ventriculoperitoneal shunt was placed, because of progressing hydrocephalus and multiple porencephaly, this time, under the cover of the factor IX complex. "