"Porencephaly"

Porencephaly in an Italian neonate with foetal alcohol spectrum disorder: A case report. Foetal alcohol spectrum disorder (FASD) is a complex malformative disease caused by the teratogenic effect of alcohol consumed during pregnancy. Mothers are frequently reluctant to admit alcohol consumption during pregnancy. During infancy and particularly during neonatal period, differential diagnosis -penis and recurvation without evidence of glans. Echocardiogram showed an inter-ventricular defect of medium-muscular type and brain magnetic resonance imaging showed asymmetry of the cerebral hemispheres with hypoplasia of the left cerebral hemisphere, dilatation of the left ventricle, cerebrospinal fluid cavity, and porencephaly. We investigated the ethylglucuronide (EtG) concentration

COL4A1 mutations in two infants with congenital cataracts and porencephaly: an ophthalmologic perspective. COL4A1 mutations present with a spectrum of clinical phenotypes often involving the cerebrovascular and ophthalmic systems. We report 2 cases of COL4A1 mutations that presented with congenital cataracts and porencephaly. Both patients had posterior cortical cataracts and radiographically defined bilateral posterior lenticonus. Considering the long-term clinical implications of these mutations, posterior cortical cataracts, bilateral posterior lenticonus, and porencephaly should raise clinical suspicion for COL4A1 mutations.

Schizencephaly and Porencephaly Due to Fetal Intracranial Hemorrhage: A Report of Two Cases Schizencephaly and porencephaly are extremely rare types of cortical dysplasia. Case 1: Prenatal magnetic resonance imaging (MRI) showed wide clefts in the frontal and parietal lobes bilaterally. On postnatal day 3, MRI T2-weighted images showed multiple hypointensities in the clefts and ventricular walls MRI was useful for diagnosing schizencephaly and porencephaly. Schizencephaly and porencephaly were thought to be due to fetal intracranial hemorrhage, which, in the porencephaly case, may have been related to a mutation of .

A case of a surviving co-twin diagnosed with porencephaly and renal hypoplasia after a single intrauterine fetal death at 21 weeks of gestation in a monochorionic monoamniotic twin pregnancy Monochorionic monoamniotic (MM) twin pregnancy carries a high risk of intrauterine fetal death (IUFD). Single IUFD in an MM twin pregnancy prior to 22 weeks of gestation has been reported to be strongly neurological damage leading to porencephaly, and live birth at 36 weeks of gestation.

Porencephaly in a fennec fox (Vulpes zerda) A postmortem examination revealed a large brain cavity in the right cerebral hemisphere of a 9-year-old male fennec (Vulpes zerda). The cavity was filled with cerebrospinal fluid and extended to the right lateral ventricle. Swelling and displacement of the right hippocampal area were also observed. Histologic examination revealed no evidence of previous infarct lesions, hemorrhage, inflammation or invasive tumor cells. Observation of the defective part suggested a local circulatory disorder during the fetal stage, although the cause was not detected. No neurological symptoms that could enable a provisional diagnosis were observed during the course of his life. This is the first report of asymptomatic porencephaly in a fennec fox.

Decrement of mirror movements by repetitive transcranial magnetic stimulation in a patient with porencephaly

Porencephaly in dogs and cats: relationships between magnetic resonance imaging (MRI) features and hippocampal atrophy Porencephaly is the congenital cerebral defect and a rare malformation and described few MRI reports in veterinary medicine. MRI features of porencephaly are recognized the coexistence with the unilateral/bilateral hippocampal atrophy, caused by the seizure symptoms in human medicine. We studied 2 dogs and 1 cat with congenital porencephaly to characterize the clinical signs and MRI, and to discuss the associated MRI with hippocampal atrophy. The main clinical sign was the seizure symptoms, and all had hippocampal atrophy at the lesion side or the larger defect side. There is association between hippocampal atrophy or the cyst volume and the severe of clinical signs

IPH and the presence of hemorrhagic porencephaly, and intrauterine transfusion was associated with infratentorial hemorrhage. Twenty-two fetuses were liveborn, and 18 pregnancies were terminated. Among those with follow-up ≥ 12 months (median = 7 years), 12 of 13 had cerebral palsy, 6 of 13 had developmental delay, and 5 of 13 had epilepsy. An etiology for fetal IPH with or without GMH-IVH

be madewith certainty until after birth.Structural abnormalitiesVentriculomegaly can be associated with a number of un-derlying central nervous system (CNS) abnormalities. Somestructural CNS anomalies, such as holoprosencephaly,hydranencephaly, porencephaly, or schizencephaly, andcystic lesions, such as arachnoid cysts, result in abnormalfluid collections in the fetal brain that may be misdiagnosedas

of coagulation factors in the mother and low levels of factors in the infant just before and after the time of delivery may contribute to the increased stroke risk in neonates.21 Neonates with AIS sometimes have an inherited thrombophilia.27 Other risk factors that are associated with neonatal AIS include cardiac lesions, coagulation disorders, infection, trauma, and asphyxia.21,28 Porencephaly coagulopathy, thrombocytopenia, trauma, and, rarely, structural vascular lesions. Although no specific cause can be identified in the majority of neonates with hemorrhagic stroke, risk factors include postmaturity, emergency cesarean delivery, fetal distress, and male sex.10,57 Mutations in COL4A1 should be considered in neonates with cerebral hemorrhage, porencephaly, glaucoma, or cataracts.58,59 Some

are pathogenic4.78100A mutation ofCOL4A1orCO4A2should be sought in a patient with deep intracerebral haemorrhage ofundetermined origin or WMHs of undetermined origin or porencephaly haemorrhage of undeterminedorigin when there is a family history of cerebral haemorrhage, porencephaly, retinal vessel tortuosities,haematuria, glomerular dysfunction, renal insufficiency, renal cysts, infantile hemiparesis, early and anticoagulant therapy. Therefore,it is recommended that a carrier should avoid hardphysical activity and anticoagulants. Due to risk ofhaemorrhage, a fetus carrying a pathogenicCOL4A1/2variant should be delivered by Caesarean section.Haemorrhagic strokes are reported twice as often asischaemic strokes. COL4A1/2 present in the paediatricand neonatal period with porencephaly or schizen-cephaly. Other

De Novo and Inherited Mutations in COL4A2, Encoding the Type IV Collagen α2 Chain Cause Porencephaly. Porencephaly is a neurological disorder characterized by fluid-filled cysts or cavities in the brain that often cause hemiplegia. It has been suggested that porencephalic cavities result from focal cerebral degeneration involving hemorrhages. 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. Most mutations occurred at conserved Gly residues in the Gly-Xaa-Yaa repeats of the triple-helical domain, leading to alterations of the α1α1α2 heterotrimers. Here we report on two individuals with porencephaly caused

COL4A2 mutation associated with familial porencephaly and small-vessel disease. 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). Mice harbouring mutations in either Col4a1 or Col4a2 suffer from porencephaly, hydrocephalus, cerebral and ocular bleeding and developmental defects. We observed porencephaly and white matter lesions in members from two families that lack COL4A1 mutations. We hypothesized that COL4A2 mutations confer genetic predisposition to porencephaly, therefore we sequenced COL4A2 in the family members and characterized clinical, neuroradiological and biochemical phenotypes. Genomic sequencing of COL4A2 identified the heterozygous missense

Phenotypic Spectrum of COL4A1 Mutations: Porencephaly to Schizencephaly. Recently, COL4A1 mutations have been reported in porencephaly and other cerebral vascular diseases, often associated with ocular, renal, and muscular features. In this study, we aimed to clarify the phenotypic spectrum and incidence of COL4A1 mutations. We screened for COL4A1 mutations in 61 patients with porencephaly and 10 patients with schizencephaly, which may be similarly caused by disturbed vascular supply leading to cerebral degeneration, but can be distinguished depending on time of insult. 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

Schmallenberg virus in calf born at term with porencephaly, belgium.

Porencephaly and cortical dysplasia as cause of seizures in a dog Seizures are a common problem in small animal neurology and it may be related to underlying diseases. Porencephaly is an extremely rare disorder, and in Veterinary Medicine it affects more often ruminants, with only few reports in dogs. A one-year-old intact male Shih-Tzu dog was referred to Veterinary University Hospital with history of abnormal gait and generalized tonic-clonic seizures. Signs included hypermetria, abnormal nystagmus and increased myotatic reflexes. At necropsy, during the brain analysis, a cleft was observed in the left parietal and occipital lobes, creating a communication between the subarachnoid space and the left lateral ventricle, consistent with porencephaly; and also a focal atrophy of the caudal

to the fetus is extremelyrare17. Sporadic injuries have been reported in older casereports, particularly those using unguided procedures, andincluded ocular trauma28, cutaneous injuries (dimplingand scarring)29,30, tendon trauma29, trauma in the fetalvessels31and brain injury (including porencephaly)32,33(EVIDENCE LEVEL: 3).Maternal complicationsSevere maternal complications related to amniocentesis

focused on individuals showing prenatal abnormal ultrasound findings and validated their prenatal and postnatal clinical features in detail. Pathogenic variants were detected in 56 individuals (n=56/218, 25.7%) showing porencephaly (n=29), schizencephaly (n=12) and others (n=15). Thirty-four variants occurred de novo (n=34/56, 60.7%). Foetal information was available in 47 of 56 individuals, 32 of whom

with porencephaly), Sturge-Weber syndrome, cortical dysplasia, hemiconvulsion-hemiplegia-epilepsy (HHE) syndrome, hemimegalencephaly, malignancy, and tuberous sclerosis.Preferentially, the pathology is limited to a single hemisphere of the brain; recovery after surgical treatment depends on the remaining hemisphere’s ability to take over cognitive and language functions that may have previously been within