The development of neurologic damage in children with complex febrile seizures can be predicted within 6 h of onset, using the identified risk factors. The authors propose an assumption of severe febrile seizures (SFS) in children who fulfill these risk factors. Using SFS as an inclusion criterion, an interventional study for acute encephalopathy can be designed.
Fibrocartilaginous embolism (FCE) is assumed to be caused by the migration of fibrocartilaginous nucleus pulposus components through retrograde embolization to the spinal cord artery. FCE is currently not well recognized among pediatricians due to its rarity. We present the case of a previously healthy 15-year-old soccer player who, after kicking a ball, developed progressive weakness in both legs and ischuria the next day. Magnetic resonance imaging revealed T2 hyperintensity in the anterior horn of the spinal cord at the Th12/L1 level with Schmorl's node at the level of L1/2. We also reviewed previous literature of FCE of the spinal cord in children (<18 years of age), and a total of 25 pediatric patients, including our case, were reviewed. The median age was 14 years and 64% of the reviewed patients were female. The most common trigger event was intense exercise or sports (52%). The neurological symptoms started within 1 day in most cases and time to symptom peak varied from a few hours to 2 weeks. The most common initial neurologic symptoms were weakness or plegia (100%), followed by paresthesia or numbness (44%). Affected areas of the spinal cord were distributed evenly from the cervical to thoracolumbar regions. Although steroids and anticoagulants were most commonly used, the prognosis was quite poor (mostly mild to severe sequelae and 3 patients died). Although FCE is a very rare condition, pediatricians should be aware of the characteristics and include FCE of the spinal cord in their differential diagnosis, especially for physically active patients.
Objective: Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is a syndrome characterized by biphasic seizures with impaired consciousness. AESD is rare outside Asia, and consecutive cohort studies are therefore scarce. Herein, we aimed to describe the detailed characteristics of AESD, including clinical course, electroencephalogram data, laboratory data, imaging findings, treatment, and outcomes.
Methods:We reviewed the clinical database and medical charts of 43 consecutive pediatric patients (<18 years old) who developed AESD between October 1, 2002, and September 30, 2019. Results: We found that AESD occurred even though patients did not develop prolonged seizures. A comparison between the two groups (first seizure duration <30 min and first seizure duration ≥30 min) revealed three main findings: first, patients with AESD who had shorter seizures had better prognosis than those with prolonged seizures; second, patients with AESD who had shorter seizures tended to have earlier occurrence of a second seizure; and third, high signal intensity on diffusion-weighted magnetic resonance imaging was observed mainly in frontal areas, not diffusely, in patients with shorter seizures, and in a broader area in patients with prolonged seizures. Conclusions: Our description of the detailed clinical picture of AESD may add new insight into its pathophysiology.
By whole exome sequencing, we identified three de novo RHOBTB2 variants in three patients with epileptic encephalopathies (EEs). Interestingly, all three patients showed acute encephalopathy (febrile status epilepticus), with magnetic resonance imaging revealing hemisphere swelling or reduced diffusion in various brain regions. RHOBTB2 encodes Rho-related BTB domain-containing protein 2, an atypical Rho GTPase that is a substrate-specific adaptor or itself is a substrate for the Cullin-3 (CUL3)-based ubiquitin ligase complex. Transient expression experiments in Neuro-2a cells revealed that mutant RHOBTB2 was more abundant than wild-type RHOBTB2. Coexpression of CUL3 with RHOBTB2 decreased the level of wild-type RHOBTB2 but not the level of any of the three mutants, indicating impaired CUL3 complex-dependent degradation of the three mutants. These data indicate that RHOBTB2 variants are a rare genetic cause of EEs, in which acute encephalopathy might be a characteristic feature, and that precise regulation of RHOBTB2 levels is essential for normal brain function.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.