The recognition of epileptic seizures in newborns is challenging as neonates exhibit a variety of paroxysmal motor phenomena, some epileptic but others not. The distinction, frequently requiring video-EEG monitoring, is crucial for management. Causes are often multi-factorial, specific to country/region, and change over time. Hypoxia-ischemia and infection are still common in both developed and developing countries. Venous and arterial strokes are being increasingly recognized. Treatable conditions, including inborn errors of metabolism, must be anticipated and considered early in the course. Etiology is the principal determinant of outcome. Management is based on uncontrolled studies and expert opinions. Information on neonatal seizures is reviewed, and suggestions for management provided. Phenobarbital remains the first anti-epileptic drug of choice, worldwide. Pharmacogenetic information and hepatic or renal dysfunction will influence doses of all drugs. The toxicity of excipients present in intravenous medicines should be kept in mind, especially when infusions are given to critically ill neonates. Therapeutic trials with pyridoxine or ideally pyridoxal phosphate, folinic acid and biotin should be considered early, if seizures are intractable. The management of electrographic seizures without clinical seizures needs critical study. When anti-epileptic drug treatment is required, maintenance should be for a short duration if seizures are of an acute symptomatic nature.
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Cureus
December 2024
Pediatric Neurology, Bahrain Defence Force Hospital, Riffa, BHR.
Super-refractory status epilepticus (SRSE) is defined as status epilepticus that persists or recurs after treatment with anesthetic agents for more than 24 hours, including cases with recurrent seizures on reduction or withdrawal of anesthetic drugs. Super-refractory status epilepticus presents a significant challenge for neurologists, particularly when standard treatments fail to achieve seizure control. Lacosamide, which has a unique mechanism involving modulating voltage-gated sodium channels by enhancing their slow inactivation, has emerged as a potential option for managing SRSE.
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 PDFMedicine (Baltimore)
January 2025
Department of Neonatal, Children's Hospital Affiliated to Shandong University/Jinan Children's Hospital, Jinan, Shandong, China.
Rationale: PCDH19-related epilepsy manifested various clinical features, including febrile epilepsy, with or without intellectual disability, and psych-behavioral disorders. However, there are few studies demonstrating abdominal pain as the first symptom.
Patient Concerns: A 3-year-old Chinese girl presented with clustered seizures of fever sensitivity accompanied by abdominal pain.
JTCVS Open
December 2024
Division of Cardiothoracic Surgery, Department of Surgery, School of Medicine, The University of Alabama at Birmingham, Birmingham, Ala.
Objective: The optimal method for cerebral protection during aortic arch reconstruction in neonates and infants is unknown. We compare the outcomes of deep hypothermic circulatory arrest and selective antegrade cerebral perfusion strategies in neonatal and infant cardiac surgery.
Methods: We retrospectively identified all patients aged less than 1 year who underwent aortic arch reconstruction from 2012 to 2023.
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