One of the most complex situations that neurologists face is brain death. It is a painful state for the patient’s family, but by the other hand, it constitutes the hope for patients waiting for organ donation. Therefore it is essential to have a clear concept to achieve a correct diagnosis and management of this delicate situation.
diagnóstico
Criterios de diagnóstico de la enfermedad de Alzheimer: Aplicaciones prácticas. Diagnostic criteria for Alzheimer’s disease: Practical applications
Palabras clave: Alzheimer,
diagnóstico,
Estado Epiléptico Refractario de Aparición Reciente (NORSE): Revisión y actualización. New-Onset Refractory Status Epilepticus (NORSE): Review and Update
The New-Onset Refractory Status Epilepticus (NORSE) is a rare entity that is defined as a clinical presentation, in a patient without active epilepsy or other relevant neurological disorder, who presents a refractory status epilepticus (RSE) without an acute or active structural, toxic, or metabolic cause. NORSE constitutes a diagnostic challenge that implies high morbidity and mortality in the short and long term. Clinically, NORSE is characterized by a prodromal phase, an acute phase, where seizures with diverse semiology that evolve to an RSE occur, and a chronic phase, with neurological deterioration and drug-resistant epilepsy. After an extensive work-up, the cause of NORSE is identified in only half of the cases. The initial treatment is based on the use of conventional anti-seizure drugs, requiring most of patients the use of anesthetics and mechanical ventilation. Better results have been observed with immunotherapy, more recently with anti-cytokine drugs, such as tocilizumab and anakinra, consistent with the immunological/inflammatory mechanisms proposed for the pathophysiology of NORSE.
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Parálisis Cerebral en Pediatría: Problemas Asociados. Cerebral Palsy In Pediatrics: Associated Problems
Introduction: Cerebral palsy is the most frequent cause of childhood disability. Children with CP will associate, in addition to neurological problems, other non-neurological disorders that will be more frequent with a greater degree of CP involvement.
Objective: To address the clinical manifestations of children with cerebral palsy and their diagnostic and therapeutic management in order to provide a comprehensive approach to these patients in a single document.
Development: A review is made of the clinical manifestations of the child with cerebral palsy including neurological disorders, orthopedic problems, digestive disorders, respiratory problems, bone health, visual and hearing problems, urological and sexual disorders, oral health, hypersalivation, sleep disorder and pain.
Conclusions: The approach to the patient with CP has changed in recent years. Care provided by an specialized multidisciplinary team is essential. However, from our experience, the role of a pediatrician who knows all the associated problems seems essential to coordinate all the follow-up.
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Palabras clave: diagnóstico,
Discapacidad,
parálisis cerebral,
trastornos neurológicos,
Tratamiento,
Autismo en Ecuador: un Grupo Social en Espera de Atención. Autism In Ecuador: A Social Group Waiting For Attention.
Although increasing historical progresses have been achieved in defining the characteristics on a unusual behavior among people who could be on the autism spectrum disorder, unattended issues remain. Accuray is necessary for a correct diagnosis and urgent attention.
Ecuador is also part of this reality. This study is the first research that has been performed in the country, with 160 school-aged boys and girls coming from the mountains and the coast of Ecuador, 80 diagnosed with autism, and 80 neuro-typical kids. The results reveal the necessity to attend this matter. Surveys and confirmation cases including an innovative way of social insertion analysis show that the diagnostic processes demands important economical resources, and these economical resources could vary according to social insertion, and socio-spatial location; 26% of the children that were part of this study, received between 1 to 5 previous different diagnosis, 13,75% were mistakenly diagnosed; 46,2% of them, that were from the city of Guayaquil, and 23,7% from the city of Quito, spent more than one thousand dollars trying to get the diagnosis. This case-control study with children between ages of 2 and 12 years old, from Quito and Guayaquil, allows us to know the real situation of autism in Ecuador. It reveals major problems regarding on how to obtain a diagnosis, a therapeutic process, most of them related to the socio economical situation of the parents that were part of this study.
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Epilepsia Occipital Benigna de la Niñez tipo Panayiotopoulos Presentación de cinco casos clínicos y revisión de la literatura.
Occipital Benign Epilepsy of Childhood, Panayiotopoulus Type (OBECP) is the more frecuent idiopathic epilepsy following the Benign Epilepsy Childhood with Centrotemporal Spikes. We present five cases with this diagnosis analyzing its clinical, electroencephalografics, therapeuthics and evolutives characteristics. This study remarks our low incidence, perhaps due to of poor knowledge and the most cases are underdiagnosted in the paediatric population. Our objetive is alert about this type of Epilepsy, its early diagnosis, adecuated treatment and the respective family assessment because this pathology had a favourable evolution.
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Síndrome de Rett Revisión de la literatura y presentación de seis casos en el Hospital Pediátrico Dr. Roberto Gilbert E.
Rett syndrome is one of the most common causes of mental retardation in females. It is an X linked dominant inherited disorder characterized by regression of language and motor milestones, acquired microcephaly, severe mental retardation and loss of purposeful use of hands. Its hallmark is a repetitive “hand-washing” movement. In the majority of cases, defects on genes MECP2 and CDKL5 have been identified. On the following report we present our first experience involving Rett Syndrome patients, analyzing their main clinical and electroencephalographic features, progression of disease and its treatment. We also make an update of genetics and treatment options. We believe that this study will provide the necessary tools to make an early diagnosis in our environment, reach the most accurate treatment and the appropriate genetic counseling for the families.
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Palabras clave: asesoramiento genético,
diagnóstico,
herencia ligada al cromosoma X,
Sindrome de Rett,
