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At least 19 recordsLinked to original sources
PubMed1998

Congenital porencephaly: MR features and relationship to hippocampal sclerosis.

PURPOSE: We determined the frequency of amygdalar-hippocampal atrophy in patients with congenital porencephaly-related seizure disorders to ascertain whether specific MR features of the porencephaly correlate with amygdalar-hippocampal atrophy and epilepsy. METHODS: We studied brain MR images of 22 patients with congenital porencephaly and measured the volume of the amygdala, the hippocampal formation, and the porencephalic cyst. We then compared imaging features with seizure symptoms. RESULTS: Porencephaly was unilateral in 20 patients and bilateral in two. Eighteen patients had cortical or subcortical cavitation and four had encephaloclastic changes (noncircumscribed parenchymal destruction associated with cystic components). The porencephaly was located in the middle cerebral artery territory in 12 patients, in the posterior cerebral artery in four, in the internal carotid artery in two, and in multiple vessels in four. The volume of the porencephalic cyst ranged from 1% to 32% of total intracranial volume (mean, 11%). Volumetry detected atrophy of the hippocampal formation in 21 cases (11 unilateral, 10 bilateral) and atrophy of the amygdala in 12 (nine unilateral, three bilateral). No correlation was found between size or location of the porencephaly and degree of hippocampal atrophy. Seizure symptoms correlated with mesial temporal origin but not with cyst location. CONCLUSION: Amygdalar-hippocampal atrophy often coexists with congenital porencephaly (95%), and the atrophy may be bilateral despite unilateral cysts. Hippocampal structures should be carefully assessed in patients with porencephaly-related seizures.

Adolescent↗
PubMed2005

Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.

Porencephaly is a rare neurological disease, typically manifest in infants, which is characterized by the existence of degenerative cavities in the brain. To investigate the molecular pathogenesis of porencephaly, we studied a mouse mutant that develops porencephaly secondary to focal disruptions of vascular basement membranes. Half of the mutant mice died with cerebral hemorrhage within a day of birth, and approximately 18% of survivors had porencephaly. We show that vascular defects are caused by a semidominant mutation in the procollagen type IV alpha 1 gene (Col4a1) in mice, which inhibits the secretion of mutant and normal type IV collagen. We also show that COL4A1 mutations segregate with porencephaly in human families. Because not all mutant mice develop porencephaly, we propose that Col4a1 mutations conspire with environmental trauma in causing the disease.

Alleles↗
PubMed1997

[Porencephaly in infants and children imaged with tomography].

On the basis of current bibliography verum and spurum porencephaly have been distinguished. Verum porencephaly originates in prenatal life and is defined as disorder of brain tissue development. Its main characteristic is that cave borders are covered with grey matter often connected with lateral ventricle. Spurum porencephaly is term for lack of brain tissue caused by its disintegration. Five cases of cysts in infants and children diagnosed in CT examination were presented with the description of the patients' clinical condition. 3 cases were diagnosed as verum porencephaly, the remaining 2 cases turned out to be spurum porencephaly.

Adolescent↗
PubMed2003

Temporal lobectomy in congenital porencephaly associated with hippocampal sclerosis.

BACKGROUND: Clinical and neuroimaging features of patients with epilepsy and coexisting extratemporal porencephaly and hippocampal sclerosis have been previously described. OBJECTIVE: To present the clinical characteristics and surgical outcome of 6 patients with intractable epilepsy and coexisting extratemporal porencephaly and hippocampal sclerosis. PATIENTS AND METHODS: Twenty-four patients with porencephaly and epilepsy were studied. Of these, 6 had an epileptogenic focus in the temporal region. All patients underwent video electroencephalogram monitoring, magnetic resonance imaging studies, and neuropsychological evaluation. Of the subset of patients with temporal lobe epilepsy, 1 patient underwent intracranial electroencephalogram monitoring. Temporal lobe resection was performed in 5 patients. Outcomes were evaluated using the Engel classification. RESULTS: Freedom from seizures was achieved in all patients. Pathologic analysis of the resected tissue confirmed the presurgical diagnosis of mesial temporal sclerosis. CONCLUSION: Patients with extratemporal porencephaly and intractable seizures should be evaluated early and be considered for temporal lobectomy if clinical, magnetic resonance imaging, and electroencephalogram findings support the diagnosis of temporal lobe onset seizures.

Adolescent↗
PubMed2001

Familial orofaciodigital syndrome type I revealed by ultrasound prenatal diagnosis of porencephaly.

Porencephaly is a rare central nervous system (CNS) abnormality that can be caused by an intraparenchymal destructive process or a developmental defect. Here we report on a prenatal ultrasound diagnosis of complex CNS abnormalities including agenesis of the corpus callosum, agenesis of the cerebellar vermis, bilateral hydrocephaly, and bilateral porencephaly in fetus at 33 weeks' gestation. The diagnosis of familial orofaciodigital syndrome type I (OFD I) was raised after fetal autopsy, clinical examination of the family, and the X-linked dominant inheritance pattern. This is the fourth report of porencephaly in association with OFD I. We discuss the difficulties in genetic counselling since OFD I shows variable expressivity of the phenotypic features. Furthermore, we emphasize the importance of a detailed ultrasound examination after a prenatal diagnosis of porencephaly.

Brain↗
PubMed1995

Fetal porencephaly: a review of etiology, diagnosis, and prognosis.

Porencephaly may result from either a developmental anomaly or an antepartum intraparenchymal insult. Pre- and postnatal ultrasonography can demonstrate characteristic images of porencephaly. There is minimal literature on diagnosis and outcome of antenatally diagnosed porencephaly. There are two types of porencephaly: type I is generally due to an antepartum intraparenchymal hemorrhage. Type II lesions are usually developmental anomalies. Prognosis generally depends on the extent of the lesion.

Brain Diseases↗
PubMed2005

Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly.

BACKGROUND: Porencephaly (cystic cavities of the brain) is caused by perinatal vascular accidents from various causes. Several familial cases have been described and autosomal dominant inheritance linked to chromosome 13q has been suggested. COL4A1 is an essential component in basal membrane stability. Mouse mutants bearing an in-frame deletion of exon 40 of Col4a1 either die from haemorrhage in the perinatal period or have porencephaly in survivors. A report of inherited mutations in COL4A1 in two families has shown that familial porencephaly may have the same cause in humans. OBJECTIVE: To describe three novel COL4A1 mutations. RESULTS: The three mutations occurred in three unrelated Dutch families. There were two missense mutations of glycine residues predicted to result in abnormal collagen IV assembly, and one mutation predicted to abolish the traditional COL4A1 start codon. The last mutation was also present in an asymptomatic obligate carrier with white matter abnormalities on brain magnetic resonance imaging. CONCLUSIONS: This observation confirms COL4A1 as a major locus for genetic predisposition to perinatal cerebral haemorrhage and porencephaly and suggests variable expression of COL4A1 mutations.

Adult↗
PubMed1997

Congenital porencephaly and hippocampal sclerosis. Clinical features and epileptic spectrum.

We studied clinical features and seizure localization in 14 patients with porencephaly and intractable seizures. Perinatal complications were present in nine patients, childhood febrile convulsions in two, congenital hemiparesis in 12, and intellectual impairment in seven. Ten patients had psychoparetic complex partial seizures (CPS), three had sensorimotor simple partial seizures, and one had generalized tonic-clonic seizures. Surface EEG showed temporal onset in nine patients (one bitemporal) and extratemporal onset in four. MRI showed porencephaly in the distribution of the middle cerebral artery in eight patients, posterior cerebral in three, internal carotid in one, and multiple vessels in two. MR-based volumetry revealed hippocampal formation atrophy in 13 patients (eight unilateral and five bilateral) and amygdalar atrophy in 10 patients (nine unilateral and one bilateral). Hippocampal formation atrophy was concordant with CPS semiology in 10 patients (71%) and with EEG temporal localization in nine patients. Two patients had pathologic confirmation of mesial temporal sclerosis and were seizure free after temporal lobectomy. We conclude that mesial temporal sclerosis often coexists with porencephaly and is the likely seizure focus in the presence of concordant electroclinical data. This recognition implies that effective surgical intervention can be offered to certain patients with porencephaly-related seizure disorders. The dual pathology and association with perinatal cerebral vascular occlusion suggest a common ischemic pathogenesis.

Adolescent↗
PubMed1991

[Porencephaly. A report of 45 cases].

In 45 cases of porencephaly 35 were male and 10 female. Their age ranged from 80 days to 58 years (mean 14 years). In this series, symptoms were observed 80 days to 22 years before diagnosis. twenty-four cases were premature delivery, difficult labour or birth trauma. 14 cases had a history of head injury. 36 cases had congenital porencephalic cyst and 9 had post-traumatic porencephaly. The main symptoms and signs of porencephaly were dementia, speech defect, intracranial hypertension, hydrocephalus, epilepsy, ataxia or paralysis. etc. It is suggested that CT scan is very useful in the diagnosis of porencephaly, and section of cerebral cortex, opening of cyst, continuous drainage or shunting operation should be done as soon as the diagnosis was made.

Adolescent↗
PubMed1983

[Intracranial arachnoid cyst and porencephaly of the middle fossa--its clinical and neuroradiological study].

We reported four cases with well demarkated low density area in the middle cranial fossa, which was not enhanced with contrast medium and had the same absorption coefficient as the CSF. The operations and histological examinations revealed that two cases were arachnoid cysts and the others were porencephalic cysts. The clinicoradiological differential clues are listed below. 1) The porencephaly has intimate relation with focal neurological signs. 2) The thinning and bulging of the temporal bone are not a specific finding of an arachnoid cyst. Hemicranial atrophy, elevation of minor sphenoid wing and dilatation of paranasal sinuses in addition to focal bulging and thinning are indicative of porencephalic cyst. 3) Hemiatrophy of the brain and dilatation of the lateral ventricle on CT as well as the absorption coefficient of the brain surface facing the cyst are important finding of the porencephaly in differentiation. 4) The investigation of CSF dynamic is by no means helpful in differentiation between arachnoid cyst and porencephaly except intraarachnoid cyst. 5) The horizontal portion of the middle cerebral artery is not elevated in both two porencephalic cases. One of them showed a slight shift of anterior cerebral artery toward the affected side. An obstruction of the vessel is an important finding in porencephaly. 6) The electroencephalography can clearly demonstrate a porencephalic cyst as a localized slow focus, whereas it is not so remarkable in an arachnoid cyst.

Adult↗
PubMed2002

Neuroimaging fails to identify asymptomatic carriers of familial porencephaly.

Familial porencephaly is a rare condition usually transmitted as an autosomal dominant trait with incomplete penetrance. We describe a new family in which six members across four generations had congenital hemiplegia. Cerebral imaging was performed in three patients and showed porencephaly in all cases. In order to provide effective genetic counseling, three asymptomatic carriers were investigated by cerebral computerized tomography (three patients) and cerebral magnetic resonance imaging (one patient). These investigations failed to show any congenital abnormalities. We conclude that cerebral imaging is unreliable to detect obligate carriers of familial porencephaly.

Adolescent↗
PubMed2004

The factor V G1691A mutation is a risk for porencephaly: A case-control study.

This study was initiated to investigate prothrombotic risk factors in children with porencephaly. 76 porencephalic and 76 healthy infants were investigated for factor V (FV) G1691A mutation, factor II G20210A variant, methylenetetrahydrofolate reductase (MTHFR) C677T genotype, lipoprotein (a), protein C, protein S, and antithrombin. Only the FV mutation (p = 0.005) and combinations of two or three different risk factors (p = 0.003) were significantly associated with porencephaly. These data give evidence that the FV G1691A mutation and a combination of prothromboic factors play a major role in the development of childhood porencephaly.

Alanine↗
PubMed2006

Neonatal porencephaly and adult stroke related to mutations in collagen IV A1.

OBJECTIVE: The objective of this study was to describe leukoencephalopathy, lacunar infarcts, microbleeds and macrobleeds in the context of a collagen IV A1 mutation. METHODS: We examined a family with autosomal dominant porencephaly, in whom a defect in collagen IV A1 was detected recently. The patients underwent neurological, ophthalmological, and cardiological examinations and magnetic resonance imaging of the brain. Electron microscopy of a skin biopsy was performed. Extensive laboratory screening was performed for thrombophilia and increased bleeding tendency. RESULTS: The porencephaly was symptomatic in the infantile period in two patients, whereas it led to only minor neurological dysfunction in their affected mother. However, she experienced development of recurrent strokes in her 40s. In addition to the porencephaly, all patients had a leukoencephalopathy, which was most severe in the mother. Her magnetic resonance imaging results also showed lacunar infarcts, macrobleeds and a multitude of microbleeds. No other risk factors for recurrent stroke were found. Electron microscopy showed interruptions of the basement membrane of skin capillaries and inhomogeneous thickening of the basement membrane with pools of basement membrane fragments. INTERPRETATION: Leukoencephalopathy, ischemic infarcts, microbleeds, and macrobleeds are indicative of an underlying microangiopathy, of which the best-known causes are hypertension, cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, and cerebral amyloid angiopathy. Mutations in collagen IV A1, a major component of the vascular basement membrane, appear to be another risk factor.

Adult↗
PubMed1995

Porencephaly secondary to fetal trauma during amniocentesis.

BACKGROUND: There has been one reported case of porencephaly diagnosed postnatally as a result of amniocentesis. We report the first antenatal diagnosis of porencephaly, which apparently resulted from penetration of the fetal skull during amniocentesis. CASE: A 37-year-old woman had genetic amniocentesis at 16 weeks' gestation. The fetal skull was penetrated during the unguided procedure. Porencephaly discovered at 28 weeks' gestation was confirmed by imaging studies in the neonatal period. CONCLUSION: Inadvertent fetal skull penetration appeared to result from amniocentesis unguided by continuous ultrasound.

Adult↗
PubMed2004

Hereditary porencephaly: clinical and MRI findings in two Dutch families.

Familial porencephaly is a rare disorder causing motor impairment, hemiplegia, mental retardation and epilepsy in variable degrees. Two families with porencephaly and apparently dominant inheritance are reported. Brain MRI findings are reviewed and described in seven affected individuals. Most patients also show white matter abnormalities in the cerebral hemisphere, also contralateral to the cystic lesion. In the first family an obligate carrier was identified who did not have a cystic lesion but clear abnormalities of the white matter. Although a predisposition for thrombophilia has previously been reported, we did not observe any genetic, environmental or epigenetic predisposition for the porencephaly. The lesions are most compatible with a deep venous thrombosis/ischemic event occurring in a late stage of pregnancy, not necessarily aggravated by perinatal asphyxia.

Adolescent↗
PubMed1986

The syndrome of the absence of a septum pellucidum with porencephaly.

Two cases of a complex brain malformation including the absence of a septum pellucidum and bilateral porencephaly were reported and compared with Aicardi's cases. The two cases have congenital hemiplegia or double hemiplegia and mental retardation, and one of them has optic atrophy. CT scans revealed the absence of a septum pellucidum and a specific position and shape of the clefts. The syndrome of the absence of a septum pellucidum and porencephaly may represent a specific type of true porencephaly, and the cause must occur before 16 weeks of gestation.

Adolescent↗
PubMed1991

[Nosology and ultrasound findings in porencephaly].

Congenital cerebral defects can be classified into two groups of porencephaly. Agenetic porencephaly results from development disturbances during early neuronal migration and can often be observed in the region of the fissura Sylvii. Encephaloclastic porencephaly, which is relatively rare, is a late prenatal or perinatal vascular lesion due to arterial ischemic stroke or venous thrombosis, and is located in the supply areas of the vessels involved. Cerebral defects can always be detected by ultrasonography. High resolution ultrasonic instruments or magnetic resonance imaging are appropriate means to find out disturbed patterns of gyration pointing to early fetal developmental disturbances.

Brain↗
PubMed1998

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

AIMS: To determine to what extent the Arg506 to Gln point mutation in the factor V gene and further genetic factors of thrombophilia affect the risk of porencephaly in neonates and infants. METHODS: 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). RESULTS: Genetic risk factors for thrombophilia were diagnosed in 16 of these 24 patients: heterozygous factor V Leiden (n = 3); protein C deficiency type I (n = 6); increased Lp (a) (n = 3); and protein S type I deficiency (n = 1). Three of the 16 infants had two genetic risk factors of thrombophilia: factor V Leiden mutation combined with increased familial Lp (a) was found in two, and factor V Leiden mutation with protein S deficiency type I in one. CONCLUSIONS: The findings indicate that deficiencies in the protein C anticoagulant pathway have an important role in the aetiology of congenital porencephaly.

Adolescent↗