Background: Most patients with idiopathic generalized epilepsy have good seizure control on antiseizure medications. Although idiopathic generalized epilepsy subtypes such as juvenile absence epilepsy and juvenile myoclonic epilepsy have a high risk of relapse, childhood absence epilepsy may have seizure remission. After 2 years of seizure freedom in childhood absence epilepsy, typically antiseizure medications are discontinued, but follow-up protocols are unclear.
View Article and Find Full Text PDFEpstein-Barr virus (EBV) is a highly successful pathogen that infects ~95% of the adult population and is associated with diverse cancers and autoimmune diseases. The most abundant viral factor in latently infected cells is not a protein but a noncoding RNA called EBV-encoded RNA 1 (EBER1). Even though EBER1 is highly abundant and was discovered over forty years ago, the function of EBER1 has remained elusive.
View Article and Find Full Text PDFEpstein-Barr virus (EBV) is a highly successful pathogen that infects ~95% of the adult population and is associated with diverse cancers and autoimmune diseases. The most abundant viral factor in latently infected cells is not a protein but a noncoding RNA called EBV-encoded RNA 1 (EBER1). Even though EBER1 is highly abundant and was discovered over forty years ago, the function of EBER1 has remained elusive.
View Article and Find Full Text PDFIntroduction: Epilepsy is a neurological disorder characterized by the predisposition for recurrent unprovoked seizures. It can broadly be classified as focal, generalized, unclassified, and unknown in its onset. Focal epilepsy originates in and involves networks localized to one region of the brain.
View Article and Find Full Text PDFThe exact prevalence of complementary and alternative medicine (CAM) use is not known in pediatric patients with neuromuscular diseases followed by any of the 150 Muscular Dystrophy Association (MDA) Care Center Clinics nationwide. This study describes the prevalence and variety of CAM usage in this population, while also assessing the prevalence of caregiver disclosure of CAM use and caregiver perception of provider support for CAM. Fifty-two caregivers of pediatric patients seen at Penn State Health's Pediatric MDA Care Center Clinic completed our online survey.
View Article and Find Full Text PDFElsberg syndrome is a typically infectious syndrome that may cause acute or subacute bilateral lumbosacral radiculitis and sometimes lower spinal cord myelitis. Patients often present with various neurological symptoms involving the lower extremities, including numbness, weakness, and urinary disturbances such as retention. A 9-year-old girl with no significant past medical history presented with altered mental status, fever, urinary retention, and anuria and was found to have encephalomyelitis.
View Article and Find Full Text PDF(1) Background: Epilepsy is one of the most common chronic neurological disorders in childhood. Complementary and alternative medicine (CAM) use is highly prevalent in patients with epilepsy. Despite CAM's widespread and increasing popularity, its prevalence, forms, perceived benefits, and potential risks in pediatric epilepsy are rarely explored.
View Article and Find Full Text PDFPawpaw (Asimina triloba (L.) Dunal, Annonaceae) is a fruit tree native to eastern North America, increasingly grown for commercial production in the United States (Callaway, 1992; Layne, 1996), Europe, and Western Asia (Brannan and Coyle, 2021; Lolletti et al., 2021).
View Article and Find Full Text PDFAutosomal recessive intellectual developmental disorder type 5 (MRT5, OMIM # 611091) is caused by biallelic pathogenic variants, leading to loss of function of the NSUN2 gene which encodes a methyltransferase involved in several biological processes, ranging from stress response to neurodevelopment (Hussain 2021). The current literature shows that MRT5 typically manifests with intellectual disability, facial dysmorphism, juvenile cataracts, chronic nephritis, hearing impairment, seizures, cerebellar atrophy, and microcephaly (Pingree et al. 2021).
View Article and Find Full Text PDFBackground: Pathogenic variants in SCN1B, the gene encoding voltage-gated sodium channel b1/b1B subunits are associated with a spectrum of epileptic disorders. This study describes a child with early myoclonic encephalopathy and a compound heterozygous variant in the SCN1B gene (p.Arg85Cys and c.
View Article and Find Full Text PDFKetogenic diets (KDs) are highly effective in the treatment of epilepsy. However, numerous complications have been reported. During the initiation phase of the diet, common side effects include vomiting, hypoglycemia, metabolic acidosis and refusal of the diet.
View Article and Find Full Text PDFBACKGROUND The relatively new autoimmune disorder, anti-myelin oligodendrocyte glycoprotein (MOG) disease is particularly interesting because of its broad range of presentations. This entity's appearance on magnetic resonance imaging (MRI) of the brain often makes identifying this disease a challenging process. Younger patients tend to present with an acute disseminated encephalomyelitis picture, with encephalopathy and multifocal neurological signs, while older patients are more likely to present with optic neuritis.
View Article and Find Full Text PDFCefepime, a fourth-generation cephalosporin, is known to risk the induction of neurotoxic impairment from confusion to nonconvulsive status epilepticus (NCSE). Neurotoxic effects of cefepime are most commonly evident in the setting of impaired renal function in adults; however, are rarely present in those with normal renal excretion function or in the pediatric population. We present a case of a 16-year-old female with a complicated past medical history but no accounts of impaired renal function yet, after starting cefepime, presented with encephalopathy, intermittent stimulus-induced posturing, and was found to have NCSE.
View Article and Find Full Text PDFComplementary and alternative medicine (CAM) use by the pediatric population with epilepsy in rural Pennsylvania was studied to characterize the prevalence, perceived effectiveness, and reasons for CAM use. This study additionally assessed the adequacy of parent-physician communication regarding CAM usage. A telephone survey was administered to 200 parents/caregivers of children with epilepsy followed at Hershey Medical Center.
View Article and Find Full Text PDFInfection-induced acute encephalopathy 3 (IIAE3) is an autosomal dominant disease resulting from a pathogenic variant in the gene. IIAE3 results in the susceptibility to the recurrence of acute necrotizing encephalopathy (ANE1) which presents as bilateral symmetric thalamic, midbrain and/or hindbrain lesions that typically develops within 1-4 days post-acute viral infection, commonly occurring before age 6. These case reports highlight a retrospective analysis of clinical data and radiographic studies on 2 ANE1 cases from our institution.
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