Neuropediatrics
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Febrile infection-related epilepsy syndrome (FIRES) is a severe postinfectious epileptic encephalopathy in previously healthy children and has three phases: the initial phase with a simple febrile infection, a few days later the acute phase characterized by a peracute onset of highly recurrent seizures or refractory status epilepticus often with no more fever and generally without additional neurological features (the classical pure seizure phenotype), and last, the chronic phase with a drug-resistant epilepsy and neuropsychological impairments. FIRES seems to be sporadic and very rare: we estimated the annual incidence in children and adolescents by a prospective hospital-based German-wide surveillance as 1 in 1,000,000. Because of the preceding infection and lacking evidence of infectious encephalitis, an immune-mediated pathomechanism and, therefore, a response to immunotherapies may be involved. ⋯ Moreover, steroids, immunoglobulins, and plasmapheresis had no clear effect in the seven patients receiving immunotherapy. The failure of antibody-detection against the known neuronal antigens as well as the ineffectiveness of immunotherapy questions a role for autoantibodies in the epileptogenesis of classical FIRES. As we discuss, other underlying causes need to be considered including the possibility of a mitochondrial encephalopathy.
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We present a case study of an 11-year-old boy with Bannayan-Riley-Ruvalcaba syndrome (BRRS) with macrocephaly, lipomatosis, and penile freckles. BRRS was confirmed by a germline mutation in the phosphatase and tensin homolog (PTEN) gene. Repeated spinal imaging demonstrated an extensive progressive spinal epidural lipomatosis, compressing and dislocating the dural sac, so far without neurological deficits. Patients with BRRS are probably a risk for progressive spinal epidural lipomatosis and should be carefully monitored by neurological examinations and eventually neuroimaging follow-up studies.