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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 -
Medicina (Kaunas, Lithuania) Apr 2022Porencephaly, a rare disease affecting the central nervous system, is represented by a cerebrospinal fluid-filled cavity in the brain. There are two types of... (Review)
Review
Porencephaly, a rare disease affecting the central nervous system, is represented by a cerebrospinal fluid-filled cavity in the brain. There are two types of porencephalic cavities: congenital and acquired. Porencephaly is mainly associated with neurological and developmental consequences. Associated psychotic symptoms were reported in a few cases, and due to this fact, there is a knowledge gap regarding the diagnostic and therapeutic approach to such cases. We present the case of a 32-year-old male diagnosed with a psychotic disorder associated with acquired porencephaly. The porencephalic cystic lesions were most probably due to a traumatic brain injury at the age of 6 years old. The psychotic symptomatology consisted of interoceptive/visceral hallucinations, delusions with persecutory and religious/magic content and disorganised behaviour. The porencephalic cavity was confirmed by a computed tomography scan. The patient was treated over the course of time with risperidone, olanzapine and zuclopenthixol. The existing literature regarding other cases of psychosis associated with porencephaly is discussed. In conclusion, even though porencephaly was asymptomatic for a long period of time, we argue that there is a causal relationship between the chronic psychotic symptoms and the porencephalic cyst in our case.
Topics: Adult; Brain; Brain Diseases; Child; Humans; Incidental Findings; Male; Porencephaly; Psychotic Disorders
PubMed: 35630003
DOI: 10.3390/medicina58050586 -
Journal of Critical Care Medicine... Apr 2019Patient-controlled analgesia with morphine is routinely used for postoperative pain management. Due to the safety profiles of the technique, which are patient/disease...
INTRODUCTION
Patient-controlled analgesia with morphine is routinely used for postoperative pain management. Due to the safety profiles of the technique, which are patient/disease related or technique/equipment related, severe respiratory depression requiring opioid antagonists or airway management are uncommon.
CASE PRESENTATION
The case of a patient with right colon carcinoma who was operated on for hemicolectomy under general anaesthesia and who presented with apnoea, after postoperatively receiving an initial bolus of 1mg of morphine. A large post-traumatic porencephalic cyst of the left brain hemisphere, previously undiagnosed, was found on the computed tomography scan. We excluded human errors, technique and equipment factors, and the patient did not have any other predisposing conditions like sleep apnoea, obesity, recent head injury or concurrent use of other sedatives. Previously the patient had been entirely asymptomatic, and her increased susceptibility to respiratory depression was the only clinical manifestation of porencephaly.
CONCLUSION
Adult acquired porencephaly is seldom reported in the literature, clinical manifestations depending on the location and size of the cyst. In the present reported case, increased susceptibility to low-dose opioids might be associated with the structural and functional reorganisation of the brain after head trauma with the occurrence of the porencephalic cyst of the brain.
PubMed: 31161144
DOI: 10.2478/jccm-2019-0011 -
European Journal of Medical Genetics Dec 2018Mutations in COL4A1 have been reported in schizencephaly and porencephaly combined with microbleeds or calcifications, often associated with ocular and renal...
UNLABELLED
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. In this study, we aimed to clarify the phenotypic spectrum of COL4A1/A2 mutations in the context of cortical malformations that include schizencephaly, polymicrogyria and/or heterotopia.
METHODS
We screened for COL4A1/A2 mutations in 9 patients with schizencephaly and/or polymicrogyria suspected to be caused by vascular disruption and leading to a cerebral haemorrhagic ischaemic event. These included 6 cases with asymmetrical or unilateral schizencephaly and/or polymicrogyria and 3 cases with bilateral schizencephaly.
RESULTS
One de novo missense COL4A1 mutation (c.3715 G > A, p.(Gly1239Arg)) and two COL4A2 mutations were found, respectively in one familial case (c.4129G > A, p.(Gly1377Arg)) and one sporadic patient (c.1776+1G > A). In three other cases, COL4A1 variants of unknown significance were identified. None of our patients demonstrated neuromuscular or hematological anomalies. Brain malformations included a combination of schizencephaly, mainly asymmetrical, with porencephaly or ventriculomegaly (3/3 mutated patients). We did not observe microbleeds or microcalcifications in any of our cases, hence we do not believe that they represent a distinctive feature of COL4A1/A2 mutations.
CONCLUSIONS
Our study further emphasizes the need to search for both COL4A1 and COL4A2 mutations in children presenting with uni- or bilateral polymicrogyria with schizencephaly, even in the absence of intracranial microbleeds, calcification or associated systemic features.
Topics: Child; Child, Preschool; Collagen Type IV; Female; Humans; Infant; Magnetic Resonance Imaging; Male; Mutation; Polymicrogyria; Porencephaly; Schizencephaly
PubMed: 30315939
DOI: 10.1016/j.ejmg.2018.10.004 -
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 -
Neurosurgical Focus Apr 2020The goal of this study was to perform an analysis of a single-center experience with hemispherotomy reoperations for refractory hemispheric pediatric epilepsy due to...
OBJECTIVE
The goal of this study was to perform an analysis of a single-center experience with hemispherotomy reoperations for refractory hemispheric pediatric epilepsy due to persistence of seizures after initial surgery. The authors also identify possible anatomical and neurophysiological reasons for hemispherotomy failure, as well as risk factors and surgical options for this subgroup of patients.
METHODS
A review was performed of the medical records in 18 consecutive cases in which candidates for redo hemispherotomy were treated between 2003 and 2018 at the authors' epilepsy surgery center. Fourteen patients underwent reoperation due to seizure recurrence and were studied herein, whereas in 3 the initial surgical procedure was stopped because of uncontrollable bleeding, and the remaining patient refused to undergo a reoperation in spite of seizure recurrence and went on to have a vagus nerve stimulation device placed.
RESULTS
Among the 14 patients whose seizures recurred and in whom reoperations were done, the etiology of epilepsy consisted of 7 cases with malformations of cortical development (50%), 5 cases of Rasmussen encephalitis (35.8%), 1 case of porencephaly (7.1%), and 1 case of Sturge-Weber syndrome (7.1%). Eleven patients had radiological evidence of incomplete disconnection. After reoperation, 6 patients were Engel class IA, 1 was Engel II, 5 were Engel III, and 2 were Engel IV, within a mean follow-up of 48.4 months.
CONCLUSIONS
Patients with malformations of cortical development have a higher risk of seizure recurrence, and these malformations comprised the main etiology in the reoperation series. Failure of an initial hemispherotomy usually occurs due to incomplete disconnection and needs to be extensively assessed. Outcomes of reoperation are most often favorable, with acceptable complication rates.
Topics: Child; Child, Preschool; Drug Resistant Epilepsy; Encephalitis; Epilepsy; Female; Follow-Up Studies; Hemispherectomy; Humans; Infant; Magnetic Resonance Imaging; Male; Reoperation; Risk Factors; Seizures
PubMed: 32234979
DOI: 10.3171/2020.1.FOCUS19944 -
Current Opinion in Virology Dec 2017Congenital infections of domestic animals with viruses in several families, including Bunyaviridae, Flaviridae, Parvoviridae, and Reoviridae, are the cause of naturally... (Review)
Review
Congenital infections of domestic animals with viruses in several families, including Bunyaviridae, Flaviridae, Parvoviridae, and Reoviridae, are the cause of naturally occurring teratogenic central nervous system and/or musculoskeletal defects (arthrogryposis) in domestic animals. Congenital infections of ruminant livestock with bluetongue virus (BTV) and some related members of the genus Orbivirus (family Reoviridae) have clearly shown the critical role of gestational age at infection in determining outcome. Specifically, fetuses infected prior to mid-gestation that survive congenital BTV infection are born with cavitating central nervous system defects that range from severe hydranencephaly to cerebral cysts (porencephaly). Generally, the younger the fetus (in terms of gestational age) at infection, the more severe the teratogenic lesion at birth. Age-dependent virus infection and destruction of neuronal and/or glial cell precursors that populate the developing central nervous system are responsible for these naturally occurring virus-induced congenital defects of animals, thus lesions are most severe when progenitor cells are infected prior to their normal migration during embryogenesis. Whereas congenital infection is characteristic of certain BTV strains, notably live-attenuated (modified-live) vaccine viruses that have been passaged in embryonating eggs, transplacental transmission is not characteristic of many field strains of the virus and much remains to be determined regarding the genetic determinants of transplacental transmission of individual virus strains.
Topics: Age Factors; Animals; Bluetongue; Bluetongue virus; Congenital Abnormalities; Female; Gestational Age; Infectious Disease Transmission, Vertical; Livestock; Orbivirus; Pregnancy; Reoviridae Infections; Ruminants; Sheep; Teratogens; Virus Diseases
PubMed: 29107849
DOI: 10.1016/j.coviro.2017.10.002 -
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 -
Epileptic Disorders : International... Feb 2020ESES is a developmental epileptic disorder directly responsible for progressive encephalopathy and neurocognitive regression. The natural history, indications for...
ESES is a developmental epileptic disorder directly responsible for progressive encephalopathy and neurocognitive regression. The natural history, indications for surgical intervention, and predictors for favorable seizure and neuropsychological outcome remain unclear. We performed a retrospective review of children who underwent resective or disconnective surgery for ESES between January 2009 and July 2016 at a large tertiary pediatric center. Information on the patients' demographics, seizure semiology, radiographic and electrographic findings, and surgical management was collected. The primary outcome was seizure freedom at last follow-up visit, and secondary outcomes were neuropsychological improvement and electrographic ESES resolution. We identified 11 children who underwent surgery for ESES. The mean ages were 3.2 years for seizure onset, 7.1 years for formal ESES diagnosis, and 9.4 years for surgery. Seizure etiologies included cortical malformations (four patients), encephalomalacia and gliosis from prior hemorrhage or tumor resections (three patients), developmental porencephaly (one patient), and Rasmussen's encephalitis (one patient); the etiology was unknown in two children. Preoperatively, nine children had motor deficits, seven had speech and language delay, and three had visual field defects. All children had seizures and neuropsychological regression prior to surgical consideration. Focal cortical resections were performed in seven children, and hemispherectomies in four. Post-operatively, nine children experienced decreased seizure frequency, eight had neuropsychological improvement, and nine had resolution of electrographic ESES. Patients with poor surgical outcomes had more significant pre-operative comorbidities, in addition to bilateral ESES activity. In this case series, surgery for a carefully selected group of children with ESES is safe and feasible, yielding rates of seizure freedom and neuropsychological improvement that compare favorably with previous reports for antiepileptic drugs, benzodiazepines, and steroids. As we gain greater understanding into the management of ESES, surgery is an increasingly useful tool for patients with mild or moderate neurodevelopmental delay, focal epileptogenic foci, and hemi-ESES electrographic findings.
Topics: Adolescent; Brain Diseases; Child; Child, Preschool; Cognitive Dysfunction; Epilepsy; Feasibility Studies; Female; Follow-Up Studies; Humans; Male; Neurosurgical Procedures; Outcome and Process Assessment, Health Care; Retrospective Studies; Sleep Wake Disorders; Status Epilepticus
PubMed: 32043470
DOI: 10.1684/epd.2020.1129 -
Clinical Neurology and Neurosurgery Feb 2023Dominant COL4A1 and COL4A2 mutations cause a broad spectrum of cerebrovascular diseases, whose onset varies from fetal to adult life, mostly represented by...
Dominant COL4A1 and COL4A2 mutations cause a broad spectrum of cerebrovascular diseases, whose onset varies from fetal to adult life, mostly represented by prenatal-neonatal intracerebral hemorrhage with porencephaly and by periventricular leukomalacia with calcifications, corresponding clinical diagnoses of cerebral palsy mimics. Axenfeld-Rieger syndrome with leukoencephalopathy, HANAC syndrome, young- and late-onset stroke and malformation of cortical development are rarer presentations. Very recently, the existence of recessive COL4A1- and COL4A2-related forms has been documented. We broaden the phenotypic and genotypic spectra of COL4A2-related disease by describing this second family with recessive pathogenic variants and neuroimaging phenotype of leukoencephalopathy with spot-like calcifications.
Topics: Pregnancy; Female; Humans; Collagen Type IV; Leukoencephalopathies; Cerebral Hemorrhage; Stroke; Porencephaly; Cerebrovascular Disorders; Mutation
PubMed: 36603335
DOI: 10.1016/j.clineuro.2022.107584