Seizure semiology in infants defies the typical characteristics and classification schemata that have been developed for older children and adults. A clear classification system is a necessary first step to facilitate proper diagnosis, choice of treatment, and determination of prognosis. This is an especially challenging task with seizures in infants. A semiologic system based upon simple descriptive terms has been proposed, which the neurologist and pediatrician will recognize as closer to clinical experience.
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http://dx.doi.org/10.1007/s11910-008-0022-1 | DOI Listing |
Infection
November 2024
Division of Neonatology, Department of Women's and Children's Health, University of Leipzig Medical Center, Liebigstraße 20a, 04103, Leipzig, Germany.
Purpose: Ureaplasma species (spp.) are relevant contributors to preterm birth but may also cause invasive infections particularly in very immature preterm infants. This study aimed to assess the incidence of neonatal Ureaplasma infections of the central nervous system (CNS).
View Article and Find Full Text PDFNeuropediatrics
January 2025
Neonatology, Leiden University, Leiden, Netherlands.
Background Hemimegalencephaly (HME) is a rare congenital disorder that is initiated during embryonic development with abnormal growth of one hemisphere. Tuberous sclerosis complex (TSC), a genetic disorder, is rarely associated with HME. Methods We present a case of a newborn with HME with a confirmed mutation in the TSC-1 gene and describe the clinical course, findings on (amplitude integrated) electroencephalography (aEEG), cranial ultrasound (CUS), MRI, and the postmortem evaluation.
View Article and Find Full Text PDFMol Genet Metab
January 2025
Clinical Department of Laboratory Medicine, University Hospitals Leuven, Leuven, Belgium; Department of Cardiovascular Sciences, KU Leuven, Leuven, Belgium. Electronic address:
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase 2 (HMGCS2) deficiency is a rare, potentially life-threatening autosomal recessive disorder resulting from mutations in the HMGCS2 gene, leading to impaired ketogenesis. We systematically reviewed the clinical presentations, biochemical and genetic abnormalities in 93 reported cases and 2 new patients diagnosed based on biochemical findings. Reported onset ages ranged from 3 months to 6 years, mostly before the age of 3.
View Article and Find Full Text PDFInt J Mol Sci
December 2024
Institute of Neurology, Department of Medical and Surgical Sciences, University Magna Graecia, 88100 Catanzaro, Italy.
Pathogenic variants are associated with neonatal epilepsies, ranging from self-limited neonatal epilepsy to -developmental and epileptic encephalopathy (DEE). In this study, next-generation sequencing was performed, applying a panel of 142 epilepsy genes on three unrelated individuals and affected family members, showing a wide variability in the epileptic spectrum. The genetic analysis revealed two likely pathogenic missense variants (c.
View Article and Find Full Text PDFBrain Dev
January 2025
Department of Clinical Neuroelectrophysiology, Wuhan Children's Hospital of Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China. Electronic address:
Objective: There are fewer reports on the ictal electroencephalogram(EEG) of convulsions in infants and children with mild gastroenteritis (BCWG). Our study retrospectively analyzed the ictal EEG characteristics of convulsive episodes of BCWG.
Methods: The seizure-phase EEGs of children diagnosed with BCWG from September 2016 to January 2022 were searched and analyzed, and a total of thirteen seizure-phase EEGs of eight cases were analyzed retrospectively.
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