Medicina
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Guillain-Barré syndrome (GBS) is characterized by rapidly progressive and generally ascending symmetrical muscle weakness, accompanied by decreased or absent osteotendinous reflexes. The inflammatory process may affect the myelin or the axon. There are 4 clinical forms of GBS: 1) acute inflammatory demyelinating polyradiculoneuropathy, 2) acute motor axonal neuropathy, 3) acute sensory and motor axonal neuropathy, and 4) the Miller-Fisher variant, which is characterized by ophthalmoplegia, ataxia and areflexia, with little muscle weakness. ⋯ The treatment of GBS will depend on the degree of severity, if the patient presents grade IV or less according to the Paradiso scale, it will be treated with Ig IV, if it presents grade V, the use of plasmapheresis and/or immunoadbosorption is recommended. In severe axonal cases, the use of corticosteroid bolus is recommended in initial stages. There is a clinical picture that overlaps GBS and chronic demyelinating polyneuropathy related to antibodies against neurophysin and contactin, in this case the appropriate therapy is rituximab.
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Autoimmune encephalitis can be defined as central nervous system inflammation, secondary to multiple causes, where we can possibly identify the formation of auto-antibody against neurotransmitter receptors or neuronal surface proteins. Approximately 50% of patients are seropositive; the auto-antibody against N-methyl-D-aspartate receptor (NMDAR) are the most common. In the pediatric population, the clinical presentation is characterized by movement disorders and seizures, psychiatric manifestations are more commonly found in young adults. ⋯ In contrast to the seropositive group, seronegative autoimmune encephalitis is linked with less movement alterations and is related with a worse cognitive outcome. Much remains to be discovered about possible etiologies, molecular processes, detection, and interaction of yet undescribed antibodies,as well as increasing our knowledge about clinical manifestations in early disease and new diagnostic techniques that could improve the diagnosis of autoimmune encephalitis. The main goal of this document is to review the updates of the molecular field about the antibody against GluK2 and its clinical presentation in pediatric population; COVID-19 as a possible cause of autoimmune encephalitis; recognize the importance of psychiatric manifestation in early disease, especially catatonia as a marker of severity; additionally consider new imaging diagnostic method such as positron emission tomography (PET), which has shown to be more sensible than MRI (goal standard).
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Non-epileptic paroxysmal events (NEPE) are defined as episodes of sudden onset and short duration that mimic an epileptic seizure, caused by a brain dysfunction of diverse origin and, unlike epilepsy, are not due to excessive neuronal discharge. Its incidence is much higher than epilepsy and can appear at any age, but are more frequent in the first years of life. The immaturity of the central nervous system in childhood favors that in this period the clinical manifestations are more spectacular and different from other ages. ⋯ It is important to follow a diagnostic protocol, assessing the personal and family history, without forgetting the physical examination, analyzing the possible triggering factors, the details of each episode, if it's possible a record of the episodes, applying common sense and experience and only carrying out basic complementary tests such as EEG recording or others in case of doubt or for diagnostic confirmation. In some cases, a genetic basis has been demonstrated. Therapeutic options are scarce and the majority of NEPE have a favorable evolution.
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The prevalence of true drug-resistant epilepsy (DRE) in the general population is about 20%. The International League Against Epilepsy (ILAE) working group defined DRE as the failure of seizure control by adequate trials of two well-tolerated and appropriately selected drugs, either in monotherapy or in combination. DREs can be divided into two broad categories: pseudo drug-resistant (DR) and true DR. ⋯ Errors on the part of the patient are irregular compliance with the intake of antiseizure medications (ASMs) such as inadequate time distribution of the ASMs and an unhealthy lifestyle. Healthcare deficiencies are related, for example, to the poor quality of some drugs in patients who stop receiving original drugs and switch to generic drugs. Regarding omissions or errors by physicians, it is important to note that a significant group of patients referred to the clinic as having DRE may have non-epileptic paroxysmal disorders, including functional seizures, errors in the recognition of the type of seizures and epileptic syndromes as well as etiology, and inadequate management of the ASMs and other treatments We consider it essential to systematically study patients with DRE in a multidisciplinary team and we believe that a considerable number of patients will benefit from an early correct diagnosis and adequate comprehensive treatment.
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The coexistence of autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) definitely poses new challenges, such as making an early diagnosis, considering that the former is usually diagnosed 2 years later in children with ADHD comorbid with autism compared to those with ASD alone; this is a problem at a personal, family and social level, since they must receive timely intervention. This coexistence raises questions about the efficacy of treatment in ADHD in people with autism, genetic, anatomical and functional concordances, among others; these are the challenges that are currently posed. ⋯ In all patients with ADHD or ASD, a coexistence between them should be sought. There are shared functional brain alterations in both disorders identified by functional brain magnetic resonance imaging; the treatment established for ADHD is also effective in this comorbidity.