Seizures in children are common and represent a final pathway for a variety of brain insults. Although most children with seizures do not require imaging, when indicated, imaging plays an important role in the clinical workup. Imaging in the pediatric seizure population is reserved for a particular subset of patients depending on factors, such as age of onset, symptomatology, physical examination findings, and specific electroencephalography changes to name a few. The etiologies of seizures are extensive and include disorders of cortical migration and organization. Cortical migration and organization disorders are multifactorial and complex and a major cause of seizure disorders. Although magnetic resonance imaging is the most common imaging modality used to identify the seizure focus, positron emission tomographic and/or diffusion tensor imaging are beginning to provide complementary information about the involved areas. Early and accurate detection is key to better treatment and overall improved patient prognosis.
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http://dx.doi.org/10.1067/j.cpradiol.2011.06.003 | DOI Listing |
Pediatr Neurol
December 2024
Department of Pediatrics, St. Francis Hospital Nsambya, Kampala, Uganda; Consultant Pediatric Neurologist, Department of Pediatrics, St. Francis Hospital Nsambya, Kampala, Uganda.
Congenital bilateral perisylvian syndrome (CBPS) is a rare neuronal migration disorder of cortical development characterized by polymicrogyria on magnetic resonance imaging. Features include pseudobulbar palsy, language and speech difficulties, epilepsy, and cognitive deficits. We discuss the management of the case of a five-year-old male with classical features of CBPS.
View Article and Find Full Text PDFCureus
November 2024
Department of Surgery - Center for Anatomical Science and Education, Saint Louis University School of Medicine, St. Louis, USA.
Polymicrogyria (PMG) is the most common malformation of cortical development (MCD) and presents as an irregularly patterned cortical surface with numerous small gyri and shallow sulci leading to various neurological deficits including developmental delays, intellectual disability, epilepsy, and language and motor issues. The presentation of PMG varies and is often found in conjunction with other congenital anomalies. Histologically, PMG features an abnormal cortical structure and dyslamination, resulting in its classification as a defect of neuronal migration and organization.
View Article and Find Full Text PDFGlia
December 2024
Department of Neurology and Alzheimer Centre Erasmus MC, Erasmus MC University Medical Center, Rotterdam, the Netherlands.
A subpopulation of astrocytes expressing WD Repeat Domain 49 (WDR49) was recently identified in frontotemporal lobar degeneration (FTLD) with GRN pathogenic variants. This is the first study to investigate their expression and relation to pathology in other FTLD subtypes and Alzheimer's disease (AD). In a postmortem cohort of TDP-43 proteinopathies (12 GRN, 11 C9orf72, 9 sporadic TDP-43), tauopathies (13 MAPT, 8 sporadic tau), 10 AD, and four controls, immunohistochemistry and immunofluorescence were performed for WDR49 and pathological inclusions on frontal, temporal, and occipital cortical sections.
View Article and Find Full Text PDFFront Mol Neurosci
December 2024
State Key Laboratory of Optometry, Ophthalmology and Vision Science, School of Ophthalmology and Optometry and Eye Hospital, Wenzhou Medical University, Wenzhou, China.
Neuronal radial migration is a fundamental process for cortical development, the disruption of which causes neurological and psychiatric dysfunctions. SLIT2 plays diverse functions in brain development and is a well-known axon guidance molecule. In this study, we investigated the radial migration of projection neurons in the developing cerebral cortex by knockdown (KD) of in mice.
View Article and Find Full Text PDFCells
December 2024
Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Developmental Disability Center, 713-8 Kamiya, Kasugai 480-0392, Japan.
encodes a small GTPase of the Rho family that plays a critical role in actin cytoskeleton remodeling and intracellular signaling regulation. Pathogenic variants in , all of which reported thus far affect conserved residues within its functional domains, have been linked to neurodevelopmental disorders characterized by diverse phenotypic features, including structural brain anomalies and facial dysmorphism (NEDBAF). Recently, a novel de novo variant (NM_005052.
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