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Internal Medicine (Tokyo, Japan) Dec 2021
Topics: Cerebral Hemorrhage; Humans; Porencephaly
PubMed: 34148964
DOI: 10.2169/internalmedicine.7446-21 -
Journal of Neurosurgery. Case Lessons May 2021Surgical treatment of intractable epilepsy caused by porencephaly can be difficult because of poorly localizing or lateralizing electroclinical findings. The authors...
BACKGROUND
Surgical treatment of intractable epilepsy caused by porencephaly can be difficult because of poorly localizing or lateralizing electroclinical findings. The authors aimed to determine whether noninvasive evaluations are sufficient in these patients.
OBSERVATIONS
Eleven patients were included in this study. The porencephalic cyst was in the left middle cerebral artery (MCA) area in 9 patients, the left posterior cerebral artery area in 1 patient, and the bilateral MCA area in 1 patient. Interictal electroencephalography (EEG) revealed multiregional, bilateral, interictal epileptiform discharges in 5 of 11 patients. In 6 of 10 patients whose seizures were recorded, the ictal EEG was nonlateralizing. Nine patients underwent ictal single-photon emission computed tomography (SPECT), which revealed lateralized hyperperfusion in 8 of 9 cases. Fluorodeoxyglucose positron emission tomography (FDG-PET) was useful for identifying the functional deficit zone. No patient had intracranial EEG. The procedure performed was hemispherotomy in 7 patients, posterior quadrant disconnection in 3 patients, and occipital disconnection in 1 patient. A favorable seizure outcome was achieved in 10 of 11 patients without the onset of new neurological deficits.
LESSONS
Ictal SPECT was useful for confirming the side of seizure origin when electroclinical findings were inconclusive. Thorough noninvasive evaluations, including FDG-PET and ictal SPECT, enabled curative surgery without intracranial EEG. Seizure and functional outcomes were favorable.
PubMed: 35854864
DOI: 10.3171/CASE21121 -
Journal of Neuropathology and... Sep 2021
Topics: Adult; Collagen Type IV; Female; Humans; Intracranial Hemorrhages; Mutation; Porencephaly; Pregnancy; Ultrasonography, Prenatal
PubMed: 33846711
DOI: 10.1093/jnen/nlab026 -
Acta Neurologica Belgica Jun 2022
Topics: Brain; Brain Diseases; Humans; Magnetic Resonance Imaging; Malformations of Cortical Development; Porencephaly
PubMed: 33728580
DOI: 10.1007/s13760-021-01652-y -
Neurology. Genetics Apr 2021We describe a third patient with brain small vessel disease 3 (BSVD3), being the first with a homozygous essential splice site variant in the gene, with a more severe...
OBJECTIVE
We describe a third patient with brain small vessel disease 3 (BSVD3), being the first with a homozygous essential splice site variant in the gene, with a more severe phenotype than the 2 children reported earlier.
METHODS
Analysis of whole exome sequencing (WES) data of the child and parents was performed. We validated the missplicing of the homozygous variant using reverse transcription PCR and Sanger sequencing of the mRNA in a lymphocyte culture.
RESULTS
The patient presented antenatally with porencephaly on ultrasound and MRI. Postnatally, he showed a severe developmental delay, refractory epilepsy, spastic quadriplegia, and a progressive hydrocephalus. WES revealed a homozygous canonical splice site variant NM_024656.3:c.625-2A>C. PCR and Sanger sequencing of the mRNA demonstrated that 2 cryptic splice sites are activated, causing a frameshift in the major transcript and in-frame deletion in a minor transcript.
CONCLUSIONS
We report a third patient with biallelic pathogenic variants in , confirming the role of this gene in autosomal recessive BSVD3.
PubMed: 33709034
DOI: 10.1212/NXG.0000000000000564 -
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 -
Human Genome Variation Nov 2020Genetic causes of undiagnosed hemolytic anemia in nineteen patients were analyzed by whole-exome sequencing, and novel COL4A1 variants were identified in four patients...
Genetic causes of undiagnosed hemolytic anemia in nineteen patients were analyzed by whole-exome sequencing, and novel COL4A1 variants were identified in four patients (21%). All patients were complicated with congenital malformations of the brain, such as porencephaly or schizencephaly. In these patients, hemolysis became less severe within 2 months after birth, and red cell transfusion was no longer required after 50 days, whereas chronic hemolysis continued.
PubMed: 33298904
DOI: 10.1038/s41439-020-00130-w -
The Journal of Maternal-fetal &... Dec 2022To review the prenatal characteristics and postnatal outcomes of Early-onset and Late-onset cerebral ventriculomegaly (VM).
OBJECTIVES
To review the prenatal characteristics and postnatal outcomes of Early-onset and Late-onset cerebral ventriculomegaly (VM).
METHODS
Single-center retrospective study 2013-2017; VM cases grouped into Early-onset VM (EVM; Diagnosis at/before 24 weeks) and Late-onset VM (LVM; Beyond 24 weeks). LVM cases had normal ventricle width measurement at mid-trimester scan. Infection serology, cytogenetics, MRI, sonographic follow-up, perinatal and neurodevelopmental outcomes were analyzed.
RESULTS
During the 5-year period, 64,662 women underwent an anomaly screening scan and 302 fetuses were identified with ventriculomegaly; 183 (60.6%) classified as early-onset and 119 (39.4%) LVM. The mean ventricular width was significantly higher in LVM cohort (14.1 mm vs 11.6 mm; < .01). EVM cases were more often associated with structural anomalies ( < .05). Possible etiologies for EVM were aneuploidy and cerebral malformations like Absent Corpus Callosum, spina bifida, Dandy-Walker malformation, etc., whereas LVM followed aqueductal stenosis, hemorrhage, porencephaly, cerebral tumors, etc. Pregnancy outcomes were available for 251 cases. The pregnancy resulted in more live births in LVM group (87.4% vs 65.6%, = < .01). Multivariate regression analysis demonstrated additional malformations ( < .0001, OR11.5 [95%CI: 4-35.2]), progression of VM ( = .004, OR 10.2 [95% CI: 2.1-52.3]) and severity of VM (OR 5.3 [95%CI: 0.8-37.7]) were significant predictors of Neurodevelopmental Impairment (NDI). Late gestation at diagnosis was more often associated with NDI ( = .063, OR2.4 [95%CI: 0.9-6.2]), although statistically insignificant.
CONCLUSIONS
EVM has a significantly different sonographic spectrum and outcomes compared to LVM. EVM is milder and associated with an increased risk of aneuploidy and structural malformations. LVM often occurs secondary to acquired brain lesions.
Topics: Aneuploidy; Cerebral Ventricles; Female; Humans; Hydrocephalus; Nervous System Malformations; Pregnancy; Retrospective Studies; Ultrasonography, Prenatal
PubMed: 33292033
DOI: 10.1080/14767058.2020.1857358 -
American Journal of Medical Genetics.... Sep 2021Twins have an increased risk for congenital malformations and disruptions, including defects in brain morphogenesis. We analyzed data on brain imaging, zygosity, sex,...
Twins have an increased risk for congenital malformations and disruptions, including defects in brain morphogenesis. We analyzed data on brain imaging, zygosity, sex, and fetal demise in 56 proband twins and 7 less affected co-twins with abnormal brain imaging and compared them to population-based data and to a literature series. We separated our series into malformations of cortical development (MCD, N = 39), cerebellar malformations without MCD (N = 13), and brain disruptions (N = 11). The MCD group included 37/39 (95%) with polymicrogyria (PMG), 8/39 (21%) with pia-ependymal clefts (schizencephaly), and 15/39 (38%) with periventricular nodular heterotopia (PNH) including 2 with PNH but not PMG. Cerebellar malformations were found in 19 individuals including 13 with a cerebellar malformation only and another 6 with cerebellar malformation and MCD. The pattern varied from diffuse cerebellar hypoplasia to classic Dandy-Walker malformation. Brain disruptions were seen in 11 individuals with hydranencephaly, porencephaly, or white matter loss without cysts. Our series included an expected statistically significant excess of monozygotic (MZ) twin pairs (22/41 MZ, 54%) compared to population data (482/1448 MZ, 33.3%; p = .0110), and an unexpected statistically significant excess of dizygotic (DZ) twins (19/41, 46%) compared to the literature cohort (1/46 DZ, 2%; p < .0001. Recurrent association with twin-twin transfusion syndrome, intrauterine growth retardation, and other prenatal factors support disruption of vascular perfusion as the most likely unifying cause.
Topics: Adult; Brain; Diseases in Twins; Female; Humans; Infant, Newborn; Male; Pregnancy; Review Literature as Topic; Twins, Dizygotic; Twins, Monozygotic
PubMed: 33205886
DOI: 10.1002/ajmg.a.61972 -
American Journal of Obstetrics and... Dec 2020
Review
Topics: Cardiology; Cardiomegaly; Echocardiography; Female; Heart Failure; Humans; Hydrocephalus; Hydrops Fetalis; Neurosurgery; Porencephaly; Pregnancy; Prognosis; Referral and Consultation; Ultrasonography, Prenatal; Vein of Galen Malformations
PubMed: 33168212
DOI: 10.1016/j.ajog.2020.08.181