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A novel frameshift variant in the gene causing a mild phenotype of GLUT1 deficiency syndrome: case report.
Mol Genet Metab Rep
December 2024
Postgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil.
Article Synopsis
- - GLUT1 deficiency syndrome is a genetic disorder that leads to low glucose levels in the brain, causing symptoms like seizures, developmental delays, and movement disorders, which can vary in severity.
- - Treatment typically involves a ketogenic diet that provides an alternative energy source for the brain.
- - The study identifies a new genetic mutation in a preschool child with atypical symptoms and highlights the need for genetic testing in patients with developmental delays.
Symptomatic central nervous system tuberculosis and human herpesvirus-6 coinfection with associated hydrocephalus managed with endoscopic third ventriculostomy: A case report and review of human herpesvirus-6 neuropathology.
Surg Neurol Int
August 2024
Division of Pediatric Neurosurgery, Children's Hospital Orange County, Orange, California, United States.
Article Synopsis
- Human herpesvirus 6 (HHV-6) is a common childhood virus that usually causes mild febrile illness but has been linked to more severe conditions like meningoencephalitis in some cases, particularly in those with weakened immune systems.
- A case study details the treatment of an 18-month-old girl who presented with symptoms suggesting meningitis, leading to a diagnosis of HHV-6 after extensive testing and amid concerns for CNS tuberculosis.
- Initially considered incidental, the initiation of antiviral therapy coincided with the child’s clinical improvement, suggesting HHV-6 may have played a more significant role in her condition than previously thought.
An Overlapping Case of Miller Fisher Syndrome and the Pharyngeal-Cervical-Brachial Variant of Guillain-Barré Syndrome.
Eur J Case Rep Intern Med
January 2020
Hospital da Senhora da Oliveira, Guimarães, Portugal.
Unlabelled: A 55-year-old Caucasian male presented initially to the emergency room (ER) reporting myalgia, chills and fever. Physical examination and laboratory tests were unremarkable and he was discharged with symptomatic care. He returned to our ER 2 weeks later reporting dizziness, loss of balance, blurred vision, mild dysarthria and bilateral hand paraesthesia.
View Article and Find Full Text PDFThe hitchhiker's guide to the role of (transient) hypoglycemia in refractory seizures and epilepsy.
Pediatr Neurol
August 2012
Division of Child Neurology, College of Medicine, University of Oklahoma, Oklahoma City, Oklahoma 73104, USA.
Hypoglycemia and hypoglycorrhachia, although they are uncommon causes of refractory seizures and epilepsy, should always be considered because they are potentially treatable conditions. A high index of suspicion and low threshold for testing recurrent blood and at least one cerebrospinal fluid glucose level are required. Jeavons syndrome and other refractory cryptogenic/idiopathic epilepsies may involve symptomatic etiologies, including hyperinsulinism, GLUT1 deficiency, and other metabolic disorders.
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