Increasing Seizures, Encephalopathy, and Hypothermia in an 18-Year-Old Woman.

An 18-year-old woman with a history of focal epilepsy presents with increasingly frequent seizures, encephalopathy, multiple laboratory abnormalities, and hypothermia. During her hospital course, her symptoms waxed and waned. Multiple etiologies of her symptoms were considered, but the spontaneous resolution of her symptoms and an abnormal MRI of the brain revealed the final diagnosis.

Creating a Patient-Based Diagnostic Checklist for Functional Tics During the COVID-19 Pandemic.

Background And Objectives: Since the onset of the COVID-19 pandemic, there has been a dramatic change in the presentation of patients with tics. The explosive presentation of atypical tics (TT) has been noted worldwide and thought to be the manifestation of a pandemic-associated functional neurologic disorder following social media exposure to tics. Nevertheless, despite the frequent diagnosis of functional tics (FT), there are no existing formal diagnostic criteria.

Electrodiagnostic Findings in Riboflavin Transporter Deficiency Type 2.

We present the electrodiagnostic findings in a case of a 3-year-old girl presenting with sensory ataxia, gait disturbance, and visual-auditory disturbance with a genetically confirmed diagnosis of riboflavin transporter deficiency type 2 (RTD2). She carries a homozygous mutation in the SLC52A2 gene, c.1016T>C (p.

Institutional Pediatric Convulsive Status Epilepticus Protocol Decreases Time to First and Second Line Anti-Seizure Medication Administration.

Purpose: Convulsive status epilepticus (CSE) is a medical emergency associated with high rates of morbidity and mortality. Although guidelines for CSE management recommend rapid treatment of seizures, prior studies show that compliance with these guidelines is low. In this study, we assessed if implementation of a paper-based clinical pathway for the treatment of CSE improves the timeliness and appropriate dosing of first and second line anti-seizure medications (ASM).

Child Neurology: A young child with an undiagnosed case of dystonia responsive to l-dopa.

Childhood-onset dystonias are a heterogeneously diverse group. There exists a specific set of dystonias that respond profoundly well to low doses of l-dopa (dopa-responsive dystonia [DRD]). Classical DRD is caused by deficiency of GTP cyclohydrolase 1 or tyrosine hydroxylase, but other conditions can cause dystonias that are partially responsive to dopamine.

Respiratory syncytial virus G protein CX3C motif impairs human airway epithelial and immune cell responses.

Respiratory syncytial virus (RSV) is a major cause of severe lower respiratory infection in infants and young children and causes disease in the elderly and persons with compromised cardiac, pulmonary, or immune systems. Despite the high morbidity rates of RSV infection, no highly effective treatment or vaccine is yet available. The RSV G protein is an important contributor to the disease process.