Neuroscience
Permanent URI for this collectionhttps://hdl.handle.net/20.500.12503/32086
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Browsing Neuroscience by Author "Hamby, Tyler"
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Item COVID-19 Parainfectious Demyelinating Lesion in a Pediatric Patient(2023) Armas, Ashley; Luke, Rebecca; Hamby, TylerBackground: Although COVID-19 primarily causes respiratory symptoms, the virus may affect other organ systems. SARS-CoV-2 neuropathology continues to be defined, but recent studies have indicated that a considerable percentage of COVID-19 patients experience neurological or psychiatric symptoms. Case Information: A previously healthy 15-year-old female presented to the emergency department with altered mental status and seizures. The patient was intubated for airway protection and transferred to intensive care. The patient was initially COVID negative but later found to be COVID positive. Extensive laboratory workup including inflammatory, infectious, oncologic, and rheumatologic studies were unrevealing. Lumbar puncture demonstrated benign cerebrospinal fluid with no malignant cells. Initial brain magnetic resonance imaging (MRI) demonstrated a diffusely heterogeneously enhancing white matter lesion in the left parietal and temporal lobes. Electroencephalogram demonstrated periodic lateralized epileptiform discharges in the left central and temporal region. Rheumatology, infectious disease, hematology, nephrology, and neuro-oncology were consulted. To control the seizures, intravenous Keppra and Ativan were administered. High-dose steroids and plasma exchange were initiated as treatment for possible demyelinating lesion as demonstrated on MRI. The first MRI after completion of plasma exchange showed expansion of the lesion although the patient clinically improved significantly. Follow-up MRIs indicate that the lesion has continued to demonstrate regression over time. Her clinical symptoms have also shown improvement. Conclusion: SARS-CoV-2 is a pathogen capable of causing severe illness affecting a variety of different organ systems. There is potential for a variety of neurological complications in patients who are COVID-19 positive, and patients can present with neurologic complications even in the absence of more typical symptoms. Successful treatment in this patient included high dose intravenous steroids and plasma exchange as well as seizure management. Long-term immunotherapy was not necessary for continued improvement.Item Probable genetic vulnerabilities that can account for the pathophysiology of cerebral palsy(2023) Ntekim, Nedeke; Butson, Carter; Hamby, Tyler; Acord, Stephanie; Marks, WarrenPURPOSE:Cerebral palsy (CP) is a nonprogressive brain and movement disorder that manifests as abnormal muscle tone. Despite the increase in cesarean sections, the rates of CP have remained constant. Research has shown that 14% of CP cases of cases have a likely causative single gene mutation and up to 31% have several genetic variations. However, no single gene has been found to explain all the symptoms of CP. The aim of the present study was to use patient’s genetic reports to determine what percentage of patients had a causative/putative gene to explain symptoms and to identify the role of those genes. The pathogenic alleles identified may warrant screenings to assess for secondary risks. METHODS: Using Invitae CP spectrum disorders panel, we analyzed the positive CP genetic reports of the 31 patients tested from November 2020 and July 2022 from a single pediatric neurology practice. We collected information about patient demographics, pathogenic alleles, and variants of uncertain significance (VUS). RESULTS: Of the 31 positive genetic reports, 30 patients (97%) had at least one pathogenic allele found; Twenty-nine pathogenic alleles were identified: four (13.8%) with autosomal dominant (AD) diseases, and seven (24.1%) with both AD and recessive (AR) diseases. Some of the pathogenic alleles found were CACNA1A (n=2), CREBBP (n=1), CTNNB1 (n=1), ATM (n=1). CONCLUSION: Many of the genes identified were associated with a movement disorder that shares features of CP, including spasticity or dystonia. The incidence of genetic findings and the high yield of dominant disorders and potential secondary risks suggest the need for both patient management and family counseling.