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Seizure Apr 2020Designed from the 60s to the 80s for adults, and despite the development of many new techniques, invasive explorations still have indications in children with focal... (Review)
Review
Designed from the 60s to the 80s for adults, and despite the development of many new techniques, invasive explorations still have indications in children with focal drug-resistant epilepsy. The main types are stereoelectroencephalography (SEEG) and subdural explorations (SDE). They provide precise information on the localization of the epileptogenic zone (EZ), its relationships with eloquent cortex, and the feasibility of performing a tailored surgical resection. Thermocoagulations, which are a diagnostic and therapeutic tool, can be performed using SEEG electrodes. Both techniques are feasible in children, with an age limitation for SEEG (which requires a bone thickness above 2 mm). The complication rate is higher with SDE. Opposed for a long time and never compared in a systematic study, they should presently be considered complementary. The indications cannot be directly inferred from those for adults, as there are pediatric particularities in the seizures' semiology, functional areas, imaging and urgent situations. We successively discuss the choice in individual cases of SEEG or SDE respectively, the specific problematic in infancy and early childhood, the schema in SEEG for cryptogenic epilepsies (in particular insular), the particularities of polymicrogyria and deeply located lesions, and finally, SEEG designed for thermocoagulations. Future improvements should include more accurate implantation schemas thanks to advanced non-invasive explorations and possibilities to perform SEEG in infants.
Topics: Adolescent; Child; Child, Preschool; Drug Resistant Epilepsy; Electrocoagulation; Electrocorticography; Epilepsies, Partial; Humans; Stereotaxic Techniques
PubMed: 30503504
DOI: 10.1016/j.seizure.2018.11.008 -
Child's Nervous System : ChNS :... Nov 2014Hemispheric dysplasia (HD) and hemimegalencephaly (HME) are both brain malformations with early clinical manifestation including developmental delay and intractable... (Review)
Review
BACKGROUND AND PURPOSE
Hemispheric dysplasia (HD) and hemimegalencephaly (HME) are both brain malformations with early clinical manifestation including developmental delay and intractable epilepsy. Sometimes the differentiation of these conditions is not simple. HME is an anomaly of cortical development caused by a combination of neural proliferation and cell migration dysfunction, showing lobar or hemispheric enlargement. On the other hand, HD shows no brain hypertrophy, and even brain atrophy, eventually.
PATIENTS AND METHODS
To compare both conditions, we reviewed clinical, MRI, and histopathology of 23 patients with developmental delay and refractory epilepsy treated with hemispheric surgery.
RESULTS
Histologically, both groups presented polymicrogyria, focal cortical dysplasia, gray matter (GM) heterotopia, pachygyria, and agyria. The white matter (WM) showed different degrees of gliosis and myelin impairment. Even though with no specificity in histopathology, the degree of lesion was more impressive on HME. The combination of WM dysmyelination and hypertrophy leads to the so called hamartomatous appearing. Although not all HME showed brain enlargement and some HD might show no size changes or atrophy, the size of affected hemisphere and the hamartomatous appearance of the WM were the more relevant signs to differentiate both conditions.
CONCLUSION
Brain MRI was the best diagnostic tolls because it allowed together high contrast resolution, whole brain coverage and spatial distribution analysis. HD and HMD showed brain asymmetry tendency, but in opposite directions. The size of affected hemisphere and the hamartomatous appearance of the WM were the more relevant signs to differentiate both conditions.
Topics: Aphasia; Functional Laterality; Humans; Megalencephaly; Neuroimaging
PubMed: 25296542
DOI: 10.1007/s00381-014-2476-6 -
Journal of Psychiatric Practice Sep 2023Patients may present with manic symptoms in medical settings such as emergency rooms and on inpatient medical floors, leading to psychiatric consultation to try to...
Patients may present with manic symptoms in medical settings such as emergency rooms and on inpatient medical floors, leading to psychiatric consultation to try to determine the etiology of the symptoms. It is crucial to clarify whether the mania is secondary to a medical illness or whether the patient's symptoms are from a primary bipolar disorder. In this issue, we publish 2 case reports of patients presenting with manic symptoms in medical settings. The first case involves polymicrogyria in the frontal lobe of the brain as a cause of secondary mania. The second case involves a patient who was previously diagnosed with bipolar disorder and subsequently developed symptoms of Behçet's disease. In this case, it appears likely that the bipolar disorder was primary, and that the Behçet disease and the bipolar disorder may have exacerbated each other. Given the complexities involved in assessing and treating patients, especially in acute or emergency settings, it is important for primary medical and psychiatric providers to collaborate and communicate well in assuring that they obtain a thorough history of their patients' symptoms and that patients receive a comprehensive medical evaluation before psychiatric treatment is started.
Topics: Humans; Mania; Bipolar Disorder; Brain; Inpatients; Emergency Service, Hospital
PubMed: 37678372
DOI: 10.1097/PRA.0000000000000731 -
Epileptic Disorders : International... Apr 2021Recently, studies on whole-exome sequencing (WES) of large cohorts of people with periventricular heterotopia (PVH) have reported an association with loss-of-function...
Recently, studies on whole-exome sequencing (WES) of large cohorts of people with periventricular heterotopia (PVH) have reported an association with loss-of-function variants in the MAP1B gene. However, neurological phenotypes of these patients remain poorly characterized. Four family members with seizures beginning in early childhood were evaluated. Integrated genomic analysis with WES and microarray was performed. Affected family members had various combinations of: febrile, fever-triggered and afebrile seizures; photo-sensitivity; comorbid mild developmental delays; obsessive-compulsive behaviors; and poor attention span. Neuroimaging showed PVH, corpus callosum abnormalities, and perisylvian polymicrogyria. A novel heterozygous frameshift variant in MAP1B was found in all affected family members. This report extends the clinical and neuroimaging phenotypes associated with MAP1B pathogenic variants. MAP1B variants may be considered in patients with febrile and afebrile seizures if characteristic neuroimaging, particularly PVH, is observed.
Topics: Brain; Epilepsy; Humans; Microtubule-Associated Proteins; Periventricular Nodular Heterotopia; Phenotype; Seizures
PubMed: 33772511
DOI: 10.1684/epd.2021.1258 -
Orphanet Journal of Rare Diseases Mar 2024Pallister-Killian syndrome (PKS) is a rare genetic disorder caused by mosaic tetrasomy of 12p with wide neurological involvement. Intellectual disability, developmental... (Review)
Review
BACKGROUND
Pallister-Killian syndrome (PKS) is a rare genetic disorder caused by mosaic tetrasomy of 12p with wide neurological involvement. Intellectual disability, developmental delay, behavioral problems, epilepsy, sleep disturbances, and brain malformations have been described in most individuals, with a broad phenotypic spectrum. This observational study, conducted through brain MRI scan analysis on a cohort of patients with genetically confirmed PKS, aims to systematically investigate the neuroradiological features of this syndrome and identify the possible existence of a typical pattern. Moreover, a literature review differentiating the different types of neuroimaging data was conducted for comparison with our population.
RESULTS
Thirty-one individuals were enrolled (17 females/14 males; age range 0.1-17.5 years old at first MRI). An experienced pediatric neuroradiologist reviewed brain MRIs, blindly to clinical data. Brain abnormalities were observed in all but one individual (compared to the 34% frequency found in the literature review). Corpus callosum abnormalities were found in 20/30 (67%) patients: 6 had callosal hypoplasia; 8 had global hypoplasia with hypoplastic splenium; 4 had only hypoplastic splenium; and 2 had a thin corpus callosum. Cerebral hypoplasia/atrophy was found in 23/31 (74%) and ventriculomegaly in 20/31 (65%). Other frequent features were the enlargement of the cisterna magna in 15/30 (50%) and polymicrogyria in 14/29 (48%). Conversely, the frequency of the latter was found to be 4% from the literature review. Notably, in our population, polymicrogyria was in the perisylvian area in all 14 cases, and it was bilateral in 10/14.
CONCLUSIONS
Brain abnormalities are very common in PKS and occur much more frequently than previously reported. Bilateral perisylvian polymicrogyria was a main aspect of our population. Our findings provide an additional tool for early diagnosis.Further studies to investigate the possible correlations with both genotype and phenotype may help to define the etiopathogenesis of the neurologic phenotype of this syndrome.
Topics: Male; Female; Humans; Child; Infant; Child, Preschool; Adolescent; Polymicrogyria; Chromosome Disorders; Neuroimaging; Brain; Brain Diseases; Chromosomes, Human, Pair 12; Observational Studies as Topic
PubMed: 38459574
DOI: 10.1186/s13023-024-03065-5 -
Current Opinion in Pediatrics Aug 2017This review provides an update of the classification in the classification of vascular anomalies since April 2014 at the International Society for the Study of Vascular... (Review)
Review
PURPOSE OF REVIEW
This review provides an update of the classification in the classification of vascular anomalies since April 2014 at the International Society for the Study of Vascular Anomalies meeting in Melbourne, Australia.
RECENT FINDINGS
The reader will become familiar with how to diagnose the major vascular malformations, including capillary, venous, arteriovenous, and lymphatic and combinations thereof. In addition, vascular malformation syndromes, including those with overgrowth, will be clarified.
SUMMARY
Vascular malformations are common. Capillary malformations are now better understood through an updated classification. Verrucous hemangioma is truly a venulocapillary malformation that extends into the subcutis. PIK3Ca-Related Overgrowth Syndromes encompass Klippel-Trenaunay, Congenital Lipomatous Asymmetric Overgrowth of the Trunk with Lymphatic, Capillary, Venous, and Combined-Type Vascular Malformations, Epidermal Nevi, Scoliosis/Skeletal and Spinal Anomalies, Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome (M-CAP), fibroadipose hyperplasia, and macrodactyly. Yet another syndrome should be highlighted: Capillary Malformation of the Lower Lip, Lymphatic Malformation of the Face and Neck, Asymmetry and Partial/Generalized Overgrowth. Knowledge of the genetic basis of vascular malformations will lead to future treatments.
Topics: Diagnosis, Differential; Humans; Lymphatic Abnormalities; Syndrome; Vascular Malformations
PubMed: 28654575
DOI: 10.1097/MOP.0000000000000518 -
Journal of Inherited Metabolic Disease Jan 2020The development and organisation of the human brain start in the embryonic stage and is a highly complex orchestrated process. It depends on series of cellular... (Review)
Review
The development and organisation of the human brain start in the embryonic stage and is a highly complex orchestrated process. It depends on series of cellular mechanisms that are precisely regulated by multiple proteins, signalling pathways and non-protein-coding genes. A crucial process during cerebral cortex development is the migration of nascent neuronal cells to their appropriate positions and their associated differentiation into layer-specific neurons. Neuronal migration defects (NMD) comprise a heterogeneous group of neurodevelopmental disorders including monogenetic disorders and residual syndromes due to damaging factors during prenatal development like infections, maternal diabetes mellitus or phenylketonuria, trauma, and drug use. Multifactorial causes are also possible. Classification into lissencephaly, polymicrogyria, schizencephaly, and neuronal heterotopia is based on the visible morphologic cortex anomalies. Characteristic clinical features of NMDs are severe psychomotor developmental delay, severe intellectual disability, intractable epilepsy, and dysmorphisms. Neurometabolic disorders only form a small subgroup within the large group of NMDs. The prototypes are peroxisomal biogenesis disorders, peroxisomal ß-oxidation defects and congenital disorders of O-glycosylation. The rapid evolution of biotechnology has resulted in an ongoing identification of metabolic and non-metabolic disease genes for NMDs. Nevertheless, we are far away from understanding the specific role of cortical genes and metabolites on spatial and temporal regulation of human cortex development and associated malformations. This limited understanding of the pathogenesis hinders the attempt for therapeutic approaches. In this article, we provide an overview of the most important cortical malformations and potential underlying neurometabolic disorders.
Topics: Cerebral Cortex; Humans; Magnetic Resonance Imaging; Malformations of Cortical Development, Group II; Metabolism, Inborn Errors; Mutation; Neurons
PubMed: 31747049
DOI: 10.1002/jimd.12194 -
Acta Neuropathologica Communications Jul 2014Polymicrogyria (PMG) is a complex cortical malformation which has so far defied any mechanistic or genetic explanation. Adopting a broad definition of an abnormally... (Review)
Review
Polymicrogyria (PMG) is a complex cortical malformation which has so far defied any mechanistic or genetic explanation. Adopting a broad definition of an abnormally folded or festooned cerebral cortical neuronal ribbon, this review addresses the literature on PMG and the mechanisms of its development, as derived from the neuropathological study of many cases of human PMG, a large proportion in fetal life. This reveals the several processes which appear to be involved in the early stages of formation of polymicrogyric cortex. The most consistent feature of developing PMG is disruption of the brain surface with pial defects, over-migration of cells, thickening and reduplication of the pial collagen layers and increased leptomeningeal vascularity. Evidence from animal models is consistent with our observations and supports the notion that disturbance in the formation of the leptomeninges or loss of their normal signalling functions are potent contributors to cortical malformation. Other mechanisms which may lead to PMG include premature folding of the neuronal band, abnormal fusion of adjacent gyri and laminar necrosis of the developing cortex. The observation of PMG in association with other and better understood forms of brain malformation, such as cobblestone cortex, suggests mechanistic pathways for some forms of PMG. The role of altered physical properties of the thickened leptomeninges in exerting mechanical constraints on the developing cortex is also considered.
Topics: Cerebral Cortex; Female; Fetus; Humans; Male; Polymicrogyria
PubMed: 25047116
DOI: 10.1186/s40478-014-0080-3 -
World Neurosurgery Mar 2022Malformations of cortical development (MCDs) are structural anomalies that disrupt the normal process of cortical development. These include microcephaly with simplified... (Review)
Review
Malformations of cortical development (MCDs) are structural anomalies that disrupt the normal process of cortical development. These include microcephaly with simplified gyral pattern/microlissencephaly, hemimegalencephaly, focal cortical dysplasia, lissencephaly, heterotopia, polymicrogyria, and schizencephaly. They can present with intractable epilepsy, developmental delay, neurologic deficits, or cognitive impairment. Though the definitive diagnosis of MCD depends on histopathology, the pathologic tissue is rarely available; hence diagnosis begins with neuroimaging. This article shall briefly review the embryology, followed by specific magnetic resonance imaging features of MCD in an attempt to simplify the process of diagnosing these disorders with clinical and genetic correlation. A table has been included to highlight the embryologic, clinical, and genetic findings associated with various MCDs.
Topics: Cerebral Cortex; Epilepsy; Humans; Magnetic Resonance Imaging; Malformations of Cortical Development; Microcephaly; Polymicrogyria
PubMed: 34896352
DOI: 10.1016/j.wneu.2021.12.011 -
Frontiers in Genetics 2021Occipital cortical malformation (OCCM) is a disease caused by malformations of cortical development characterized by polymicrogyria and pachygyria of the occipital lobes...
Occipital cortical malformation (OCCM) is a disease caused by malformations of cortical development characterized by polymicrogyria and pachygyria of the occipital lobes and childhood-onset seizures. The recessive or complex heterozygous variants of the gene are identified as the cause of OCCM. In the present study, we identified novel complex heterozygous variants (c.470G > A and c.4030 + 1G > A) of the gene in a Chinese female with childhood-onset seizures. Cranial magnetic resonance imaging was normal. Functional experiments confirmed that both variant sites caused premature truncation of the laminin γ3 chain. Bioinformatics analysis predicted 10 genes interacted with with an interaction score of 0.4 ( value = 1.0e-16). The proteins encoded by these genes were mainly located in the basement membrane and extracellular matrix component. Furthermore, the biological processes and molecular functions from gene ontology analysis indicated that laminin γ3 chain and related proteins played an important role in structural support and cellular processes through protein-containing complex binding and signaling receptor binding. KEGG pathway enrichment predicted that the gene variant was most likely to participate in the occurrence and development of OCCM through extracellular matrix receptor interaction and PI3K-Akt signaling pathway.
PubMed: 34354730
DOI: 10.3389/fgene.2021.616761