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Journal of Ultrasound in Medicine :... Dec 2009The purpose of this study was to evaluate the importance of echogenic material in the fetal frontal horns.
OBJECTIVE
The purpose of this study was to evaluate the importance of echogenic material in the fetal frontal horns.
METHODS
This was a Health Insurance Portability and Accountability Act-compliant, Institutional Review Board-approved retrospective study. In part 1 of the study, prenatal sonography, prenatal magnetic resonance imaging (MRI), and birth outcomes of 17 fetuses (mean gestational age, 19 weeks; range, 15-34 weeks) with prospective echogenic material in the frontal horns were assessed. In part 2, 400 consecutive sonographic fetal surveys (mean gestational age, 19 weeks; range, 15-38 weeks) were reviewed to determine the incidence. In part 3, 2 independent reviewers assessed the appearance of the frontal horns in 40 fetuses (20 with suspected intraventricular hemorrhage from parts 1 and 2 and 20 who were interpreted to have normal findings in part 2).
RESULTS
Part 1 of the study showed that suspected hemorrhage was unilateral in 13 fetuses and bilateral in 4. Additional findings by sonography were grade 4 intraventricular hemorrhage (n = 2), ventriculomegaly (n = 2), and porencephaly (n = 1). An additional finding by MRI was porencephaly in 1 fetus. In part 2, echogenic material in the frontal horns was identified in 3 of 400 fetuses (0.8%). In part 3, hemorrhage was probably or definitely present in 11 of the 20 fetuses with abnormalities; material looked like a cyst in 6; and normal choroid was in an abnormal position in 2 and a normal position 1. Of 19 fetuses with abnormalities, 14 had a posteriorly symmetric choroid; 9 had material of different echogenicity compared with the choroid; and 17 had an expanded frontal horn. Birth outcomes were abnormal in 7, including platelet abnormalities (n = 2), hemorrhage on imaging or pathologic examination (n = 2), extraventricular hemorrhage (n = 3), and ventriculomegaly (n = 3).
CONCLUSIONS
The incidence of echogenic material in the frontal horns is less than 1%. This does not represent the normal location of the choroid plexus and may represent hemorrhage, which may resolve without sequelae or result in ventriculomegaly and porencephaly.
Topics: Cerebral Ventricles; Echoencephalography; Female; Humans; Intracranial Hemorrhages; Pregnancy; Reproducibility of Results; Sensitivity and Specificity; Ultrasonography, Prenatal
PubMed: 19933475
DOI: 10.7863/jum.2009.28.12.1629 -
Archives of Disease in Childhood Mar 1992A previously unrecognised and distinctive pattern of severe brain injury in extreme preterm neonates was observed recently. Fifteen neonates of birth weight 600-1270 g...
A previously unrecognised and distinctive pattern of severe brain injury in extreme preterm neonates was observed recently. Fifteen neonates of birth weight 600-1270 g and gestation of 24-32 weeks showed relatively late development on cerebral ultrasound scan of extensive dense and cystic lesions involving the periphery of the brain. The extent of the changes was confirmed at postmortem examination in 11 babies. These changes have been called encephaloclastic porencephaly. The population of babies in whom this has occurred and their clinical outcome has been reviewed, with comparison between the evolution of the ultrasound changes and pathological findings at postmortem examination.
Topics: Brain; Brain Injuries; Cysts; Echoencephalography; Humans; Infant, Newborn; Infant, Premature, Diseases; Necrosis
PubMed: 1575554
DOI: 10.1136/adc.67.3.307 -
Proceedings of the Royal Society of... Feb 1929
PubMed: 19986820
DOI: No ID Found -
Cureus Nov 2021Pediatric convulsive seizure is common and represents a source of major concern and anxiety for the parents. Seizures can have a broad spectrum of etiologies in...
Pediatric convulsive seizure is common and represents a source of major concern and anxiety for the parents. Seizures can have a broad spectrum of etiologies in children, including metabolic, traumatic, developmental, and infectious causes. Depending on the clinical presentation, laboratory testing and neuroimaging may be indicated in the workup of the first unprovoked afebrile seizure. We present a case of a six-year-old boy who was brought to the emergency department by his mother after an episode of convulsion. She reported that he had jerky repetitive movements of all extremities that lasted around two minutes with spontaneous termination. The child did not have a febrile illness. The mother reported no history of similar episodes. Upon examination, the child appeared alert and conscious. No dysmorphic features were evident. Initial laboratory investigations were within the normal limits. The child underwent magnetic resonance imaging for the brain, which demonstrated a large well-defined extra-axial cystic lesion occupying most of the left hemisphere that is connected to the ventricular system. The lesion had no grey-matter lining and it strictly followed the cerebrospinal fluid in all sequences. Such finding represented the diagnosis of a giant left porencephalic cyst. Porencephaly is an extremely rare neurological anomaly that may present with pediatric seizures. Magnetic resonance imaging is the gold standard modality for the diagnosis of porencephaly. The case demonstrated that porencephaly can have a massive size in a patient with normal psychoneurological development.
PubMed: 34926080
DOI: 10.7759/cureus.19623 -
Neurologia (Barcelona, Spain) Oct 2012To present 16 patients with schizencephaly and neurological involvement, and analyse their characteristics and neuroimages.
OBJECTIVE
To present 16 patients with schizencephaly and neurological involvement, and analyse their characteristics and neuroimages.
MATERIAL AND METHODS
The study included 16 patients, 8 males and 8 females, all of whom were diagnosed with schizencephaly at less than 3 years of age; 2 patients were diagnosed prenatally. Schizencephaly was identified by computerized tomography (CT) in 1 patient and by MR or three-dimensional MR (3DMR) with a 1.5tesla apparatus in the others. Most patients were referred for evaluation because of psychomotor delay, motor disabilities and/or seizures.
RESULTS
Five patients had bilateral schizencephaly with open lips (2 of them had suffered intrauterine cytomegalovirus infections); 2 showed unilateral schizencephaly with separated lips, 8 presented unilateral schizencephaly with fused lips, and 1 had schizencephaly with open lips on one side and fused lips on the other. Prenatal cytomegalovirus infection was diagnosed in 2 patients. A cerebral malformation that affected the midline was diagnosed by routine ultrasound studies in 2 patients. Eight patients (50%) presented with seizures that were focal, except for one patient who showed secondary generalisation. The latter was the only patient whose disease was refractory to complete seizure control with antiepileptic medication. All patients had some degree of motor deficit, which was either unilateral (hemiparesis) or bilateral (tetraparesis).
CONCLUSION
3D MR imaging was very important in diagnosing of schizencephaly in our patients because it showed the polymicrogyria that covered the area of the cleft and permitted us to rule out porencephaly. Neuronal migration disorders such as heterotopias and, more frequently, cortical dysplasias, were observed in several patients. Half of the patients had epilepsy which was controlled with antiepileptic medication, except in 1 patient.
Topics: Child, Preschool; Developmental Disabilities; Electroencephalography; Female; Head; Humans; Image Processing, Computer-Assisted; Imaging, Three-Dimensional; Infant; Infant, Newborn; Magnetic Resonance Imaging; Male; Malformations of Cortical Development; Tomography, X-Ray Computed
PubMed: 21890242
DOI: 10.1016/j.nrl.2011.06.005 -
Archives of Disease in Childhood. Fetal... Mar 1998To 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...
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.
Topics: Adolescent; Brain Diseases; Child; Child, Preschool; Cysts; Factor V; Female; Humans; Infant; Infant, Newborn; Lipoprotein(a); Magnetic Resonance Imaging; Male; Point Mutation; Protein C Deficiency; Protein S Deficiency; Retrospective Studies; Risk Factors; Thrombophilia
PubMed: 9577282
DOI: 10.1136/fn.78.2.f121 -
European Review For Medical and... Jan 2021This article aimed to describe a novel COL4A2 mutation and the phenotypic features of two family members presenting with epilepsy and cortical development malformations.
OBJECTIVE
This article aimed to describe a novel COL4A2 mutation and the phenotypic features of two family members presenting with epilepsy and cortical development malformations.
PATIENTS AND METHODS
The first patient is a 65-year-old woman with hematuria and adult-onset seizures. Brain MRI showed closed lip schizencephaly of right lateral sulcus associated with polymicrogyria of the surrounding cortex and areas of subcortical heterotopia. The second patient is a 40-year-old man, her son. He was born post-term with neonatal distress and psychomotor developmental delay with congenital left leg paresis and strabismus, as well as childhood-onset focal motor seizures. Brain MRI showed a right nucleus-capsular porencephalic cavitation with enlargement of the homolateral ventricle and a focal right occipital cortico-subcortical encephalomalacia. A small heterotopic band was also present in the frontal left subcortical region.
RESULTS
We tested both patients with a NGS panel for genetic epilepsies, which evidenced a missense mutation in COL4A2 gene (c.2972G>A, causing the aminoacidic substitution Gly991Glu).
CONCLUSIONS
The phenotypic spectrum associated with COL4A2 mutations has not been extensively described in the literature. Testing for COL4A mutations is indicated in patients with malformations of cortical development, particularly in the presence of familial conditions, even in the absence of porencephaly or early hemorrhagic strokes.
Topics: Adult; Aged; Collagen Type IV; Female; Hemangioma, Cavernous, Central Nervous System; Humans; Magnetic Resonance Imaging; Male; Malformations of Cortical Development; Mutation
PubMed: 33577044
DOI: 10.26355/eurrev_202101_24658 -
Ultrasound in Obstetrics & Gynecology :... May 2021To establish the prevalence of COL4A1 and COL4A2 gene mutations in fetuses presenting with a phenotype suggestive of cerebral injury.
OBJECTIVE
To establish the prevalence of COL4A1 and COL4A2 gene mutations in fetuses presenting with a phenotype suggestive of cerebral injury.
METHODS
This was a single-center retrospective analysis of all cases of fetal cerebral anomalies suggestive of COL4A1 or COL4A2 gene mutation over the period 2009-2018. Inclusion criteria were: (1) severe and/or multifocal hemorrhagic cerebral lesions; (2) multifocal ischemic-hemorrhagic cerebral lesions. These anomalies could be of different ages and associated with schizencephaly or porencephaly. Between fetuses with and those without a mutation, we compared gestational age at the time of diagnosis, parity and fetal gender.
RESULTS
Among the 956 cases of cerebral anomaly diagnosed in our center during the 10-year study period, 18 fetuses were identified for inclusion. A pathogenic COL4A1 gene mutation was found in five of these cases, among which four were de-novo mutations. A variant of unknown significance was found in four fetuses: in the COL4A1 gene in one case and in the COL4A2 gene in three cases. No COL4A1 or COL4A2 mutation was found in the remaining nine fetuses. The median (interquartile range) gestational age at diagnosis was significantly lower in cases with a mutation (24 (22-26) weeks) than in cases without a mutation (32 (29.5-34.5) weeks) (P = 0.03).
CONCLUSIONS
A phenotype suggestive of cerebral injury was found in 18 of the 956 (1.9%) cases in our population, in 28% of which there was an associated COL4A1 or COL4A2 mutation. COL4A1 and COL4A2 gene mutations should be sought systematically in cases of severe and/or multifocal hemorrhagic or ischemic-hemorrhagic cerebral lesions, with or without schizencephaly or porencephaly. © 2020 International Society of Ultrasound in Obstetrics and Gynecology.
Topics: Adult; Cerebral Hemorrhage; Collagen Type IV; Female; Gestational Age; Humans; Malformations of Cortical Development; Mutation; Phenotype; Porencephaly; Pregnancy; Pregnancy Outcome; Prenatal Diagnosis; Prevalence; Retrospective Studies; Schizencephaly
PubMed: 32515830
DOI: 10.1002/uog.22106 -
Epilepsia Dec 2014Cortical resections in epilepsy surgery tend to be larger in children, compared to adults, partly due to underlying pathology. Some children show unilateral multifocal...
OBJECTIVE
Cortical resections in epilepsy surgery tend to be larger in children, compared to adults, partly due to underlying pathology. Some children show unilateral multifocal seizure onsets involving much of the hemisphere. If there were a significant hemiparesis present, hemispherectomy would be the procedure of choice. Otherwise, it is preferable to spare the primary sensorimotor cortex. We report the results of "subtotal" hemispherectomy in 23 children.
METHODS
All children (ages 1 year and 4 months to 14 years and 2 months) were operated on between 2001 and 2013 at Children's Hospital of Michigan (Detroit). Patients were evaluated with scalp video-electroencephalography (EEG), magnetic resonance imaging (MRI), (18) F-fluorodeoxyglucose-positron emission tomography (FDG-PET) scans, and neuropsychological assessments when applicable. Subsequently, each case was discussed in a multidisciplinary epilepsy surgery conference, and a consensus was reached pertaining to candidacy for surgery and optimum surgical approach. The actual extent of resection was based on the results from subdural electrocorticography (ECoG) monitoring. The surgical outcome is based on International League Against Epilepsy (ILAE) classification (class 1-6).
RESULTS
Among the 23 patients, 11 had epileptic spasms as their major seizure type; these were associated with focal seizures in 3 children. MRI showed focal abnormalities in 12 children. FDG-PET was abnormal in all but one subject. All except two children underwent chronic subdural ECoG. Multiple subpial transections were performed over the sensorimotor cortex in three subjects. On histopathology, various malformations were seen in 9 subjects; the remainder showed gliosis alone (n = 12), porencephaly (n = 1), and gliosis with microglial activation (n = 1). Follow-up ranged from 13 to 157 months (mean = 65 months). Outcomes consisted of class 1 (n = 17, 74%), class 2 (n = 2), class 3 (n = 1), class 4 (n = 1), and class 5 (n = 2).
SIGNIFICANCE
Extensive unilateral resections sparing only sensorimotor cortex can be performed with excellent results in seizure control. Even with the presence of widespread unilateral epileptogenicity or anatomic/functional imaging abnormalities, complete hemispherectomy can often be avoided, particularly when there is little hemiparesis.
Topics: Adolescent; Child; Child, Preschool; Electroencephalography; Epilepsies, Partial; Female; Fluorodeoxyglucose F18; Hemispherectomy; Humans; Infant; Longitudinal Studies; Magnetic Resonance Imaging; Male; Positron-Emission Tomography; Retrospective Studies; Treatment Outcome
PubMed: 25366422
DOI: 10.1111/epi.12845 -
JFMS Open Reports 2022A 6-week-old entire female domestic shorthair cat was presented for evaluation of a soft bulge and a palpable skull defect on the forehead, present since adoption a few...
CASE SUMMARY
A 6-week-old entire female domestic shorthair cat was presented for evaluation of a soft bulge and a palpable skull defect on the forehead, present since adoption a few days earlier. The neurological examination revealed an absent menace response bilaterally and apparent blindness, localising the lesion to the occipital cortex. The main differential diagnoses were meningocoele (MC) and meningoencephalocoele (MEC). Surgical repair was proposed once the cat reached adult size. Meanwhile, the cat developed seizures and was treated with anticonvulsant therapy. At 6 months of age, CT confirmed a frontoparietal MEC with associated porencephaly. Based on a three-dimensional printed skull mould, a polysulfone implant was created. The meninges were dissected from the skin, a durectomy was performed and samples of the protruding brain were obtained. Part of the cerebrospinal fluid was drained until the size of the protruding brain decreased enough to be included below the implant that was anchored on top of the skull with cerclages. Histopathology confirmed the diagnosis of MEC. Three years and 7 months later, the cat had partially recovered vision but continued to seize monthly despite antiepileptic drugs.
RELEVANCE AND NOVEL INFORMATION
MC/MEC is a relatively uncommon disease reported in companion animals, and only four cases of surgical management have been described, and did not use a polysulfone tailor-made implant. In human medicine, surgical intervention is the treatment of choice. This case highlights a new implant option for surgical correction of MEC with good long-term result and no complications after 3 years and 7 months.
PubMed: 35693478
DOI: 10.1177/20551169221098940