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1.
Rev. méd. Chile ; 144(1): 83-93, ene. 2016. ilus, tab
Article in Spanish | LILACS | ID: lil-776978

ABSTRACT

Pediatric Status Epilepticus (SE) is an emergency situation with high morbidity and mortality that requires early and aggressive management. The minimum time criterion to define SE was reduced from 30 to 5 minutes, defined as continuous seizure activity or rapidly recurrent seizures without resumption of consciousness for more than 5 minutes. This definition considers that seizures that persist for > 5 minutes are likely to do so for more than 30 min. Those that persist for more than 30 minutes are more difficult to treat. Refractory SE is the condition that extends beyond 60-120 minutes and requires anesthetic management. Super-refractory SE is the state of no response to anesthetic management or relapse during withdrawal of these drugs. The aim of this review is to provide and update on convulsive SE concepts, pathophysiology, etiology, available antiepileptic treatment and propose a rational management scheme. A literature search of articles published between January 1993 and January 2013, focused on pediatric population was performed. The evidence about management in children is limited, mostly corresponds to case series of patients grouped by diagnosis, mainly adults. These publications show treatment alternatives such as immunotherapy, ketogenic diet, surgery and hypothermia. A 35% mortality, 26% of neurological sequelae and 35% of recovery to baseline condition is described on patient’s evolution.


Subject(s)
Humans , Status Epilepticus/drug therapy , Anticonvulsants/therapeutic use , Seizures , Status Epilepticus/etiology , Status Epilepticus/physiopathology , Child Health , Disease Management , Anticonvulsants/classification
2.
Rev. Méd. Clín. Condes ; 19(5): 559-566, nov. 2008. tab
Article in Spanish | LILACS | ID: lil-511243

ABSTRACT

Los avances en el conocimiento de la genética, han modificado en forma determinante la práctica de la Neurología clínica, aportando a una explosiva expansión del área de las enfermedades Neurogenéticas. El advenimiento de nuevas técnicas de genética molecular; las investigaciones en el genoma humano y la descripción de nuevas formas de herencia, han contribuido a la comprensión de la fisiopatología de estas condiciones y han abierto nuevas perspectivas para su tratamiento. En este articulo se describen los mecanismos clásicos y "no tradicionales" de herencia de las enfermedades neurogenéticas, se destaca los elementos cínicos que orientan a su diagnóstico y se revisa las enfermedades de diagnóstico más frecuente: su presentación clínica, las correlaciones genotipo/fenotipo, los estudios recomendados para su diagnóstico y consejo genético.


The great advances in genetic research reached during last years, have deeply modified the routine clinical practice in Neurology, with an specific impact in the expanding field of neurogenetíc dísorders. New technologies in molecular genetics, the research in the human genome and the description of new forms of inheritance have contributed to the understanding of the physíopathology of these conditions and ha ve also open new perspectives to their treatment. In this report we describe classic and "non traditional" mechanisms of inheritance of neurogenetic disorders, highlighting the key clinical fea tu res to suspect their diagnosis. The most frequent neurogenetic disorders are reviewed, special/y regarding their clinical presentation, genotype/phenotype correlation, recommended methodology used for the diagnosis and genetíc counseling.


Subject(s)
Humans , Adolescent , Child , Central Nervous System Diseases/genetics , Genetic Predisposition to Disease
3.
Rev. Méd. Clín. Condes ; 19(5): 546-557, nov. 2008. tab
Article in Spanish | LILACS | ID: lil-511244

ABSTRACT

La cefalea es un síntoma frecuente en niños y adolescentes. Su evaluación incluye anamnesis y examen neurológico completos. Luego de éstos, en la mayoría de los casos es posible definir si se trata de una cefalea primaria o secundaria. La indicación de exámenes de laboratorio y/o neuroimágenes debe hacerse sólo después de efectuar la evaluación clínica. Hecho el diagnóstico, el manejo se basa en la resolución de la causa en las cefaleas secundarias; en cambio, en las cefaleas primarias la terapia se define según la frecuencia y severidad del dolor e impacto en la calidad de vida del niño.


Headache is a frequent symptom in children and adolescents. Complete anamnesis and neurological examination are needed to define if headache is primary or secondary. Additional studies are indicated in specific clinical contexts and after a complete evaluation. In secondary headaches the treatment is oriented to the specific etiology. In primary headache, treatment depends on frequency and severity of pain, and mainly considering the impact on the child's quality of life.


Subject(s)
Humans , Adolescent , Child , Headache/diagnosis , Headache/etiology , Headache/therapy , Intracranial Hypertension/complications , Central Nervous System Neoplasms/complications , Migraine Disorders/diagnosis , Migraine Disorders/therapy
4.
Rev. Méd. Clín. Condes ; 19(5): 511-524, nov. 2008. tab, ilus
Article in Spanish | LILACS | ID: lil-511247

ABSTRACT

El trastorno por déficit de atención e hiperactividad (TOAH) es la condición neurobiológica más prevalente en niños y adolescentes, asociada a importante impacto funcional, personal, familiar y social. La evidencia científica actual provee de fundamentos sólidos acerca de sus bases neurobiológicas: alta heredabilidad, identificación de varios genes implicados en su etiología; perfil neuropsicológico con evidencias de disfunción ejecutiva, desregulación motivación/recompensa, déficits en activación; alteraciones estructurales y de funcionamiento de la corteza prefrontal (CPF) y sus conexiones con el striatum y cerebelo; desbalances de los sistemas dopaminérgico y noradrenérgico, blancos de los tratamientos farmacológicos. En esta revisión se destaca los aportes de las aproximaciones multidisciplinarias (p.e. genética/neuropsicológica/imágenes funcionales) para la comprensión de esta condición heterogénea que se conceptualiza hoy como multifactorial en su origen y con múltiples procesos fisiopatológicos subyacentes. La activa investigación en curso, acerca la posibilidad de contar con marcadores biológicos para el diagnóstico de TDAH y con información gen ética de valor para la elección de fármacos de mayor efectividad y menos efectos adversos.


Attention-deficit/hyperactivity disorder is the most prevalent neurobiological condition in children and adolescents, with significant personal and social functional impairments. There is now strong scientific data providing foundation to its biologic basis. High heritability; several genes involved in its etiology; neuropsychological profile showing executive dysfunction, motivation/reward, dysregulation and activation deficits; altered structure and function of prefrontal cortex and its striatal and cerebellar connections, imbalance of dopaminergic and noradrenergic systems, target of pharmacologic treatment. In this review the contribution af multidisciplinary studies (genetic/neuropsychology/ functional imaging) to the comprehension of this complex and multifactarial canditian is highlighted. Ongoing active research promises new important developments such as biolagic diagnostic markers far clinical purpases and useful genetic data in order ta select pharmacologic treatment, improve efficiency and reduce side effects.


Subject(s)
Humans , Attention Deficit Disorder with Hyperactivity/diagnosis , Attention Deficit Disorder with Hyperactivity/physiopathology , Attention Deficit Disorder with Hyperactivity/genetics , Genetic Predisposition to Disease , Neurobiology , Phenotype , Attention Deficit Disorder with Hyperactivity/epidemiology
5.
Rev. Méd. Clín. Condes ; 17(1): 3-11, Ene. 2006. ilus, tab
Article in Spanish | LILACS | ID: lil-428666

ABSTRACT

Las mitocondrias como organelos subcelulares claves en la generación de la energía son esenciales para la supervivencia de la vida humana. Sus alteraciones conocidas en la actualidad como enfermedades o citopatías mitocondriales se han constituido en la última década en un área de acelerado desarrollo que involucra a todas las especialidades de la medicina. Focos de estudio de especial interés son la herencia "no tradicional" de estos trastornos con un doble control genético (nuclear y mitocondrial); la expresión variable de estas enfermedades en distintos tejidos (multisistémicas o multitisulares) y el creciente diagnóstico de estos cuadros que parecen ser más frecuentes.


Subject(s)
Humans , DNA, Mitochondrial/genetics , Mitochondrial Diseases/complications , Multiple Organ Failure/etiology , Mitochondrial Diseases/diagnosis , Mitochondrial Diseases/therapy , Enzymes/deficiency , Multiple Organ Failure/genetics , Mitochondria/physiology , Signs and Symptoms
7.
Rev. méd. Chile ; 128(7): 772-7, jul. 2000. ilus
Article in Spanish | LILACS | ID: lil-270888

ABSTRACT

Cramps and myalgias are frequent presentations of many disorders whose diagnosis is generally difficult. Among the unusual causes stand the milder phenotypes of dystrophinopathies, which are caused, just as Duchenne and BeckerÕs dystrophy, by mutations in the dystrophin gene. An 8 year-old boy presented severe muscle pain on exercise and serum rise in creatine kinase over 1000 U/l. He had normal muscle power and mild calf hypertrophy. The molecular analysis by polymerase chain reaction (PCR) of the dystrophin gene showed deletions of exons 45 to 51. Dystrophin analysis by Western blot revealed a dystrophin of reduced quantity and molecular weight. Emphasis is made to include dystrophinopathies in the differential diagnosis of myalgias and the usefulness of molecular genetic techniques in the identification of these disorders


Subject(s)
Humans , Male , Child , Dystrophin/genetics , Muscular Dystrophies/genetics , Immunohistochemistry , Exercise , Dystrophin , Chromosome Deletion , Creatine Kinase , Muscular Dystrophies/diagnosis , Muscular Dystrophies/physiopathology , Mutation/genetics
8.
Rev. méd. Chile ; 127(1): 65-70, ene. 1999. tab, graf
Article in Spanish | LILACS | ID: lil-243760

ABSTRACT

Background: Duchenne muscular dystrophy is the most frequent neuromuscular disease in children. Aim: To determine the causes of delayed diagnosis of the disease. Patients and methods: The clinical records of 61 children diagnosed as Duchenne progressive muscular dystrophy were analyzed. Results: the first symptoms of the disease were noticed at a mean age of 1.5 years. Parents consulted at the mean age of 3 years, but the accurate diagnosis was made at a mean age of 5.7 years. In only 15 percent of children, the disease was diagnosed in the first four years of age. Less than 20 percent of children were referred for an adequate study and the rest were managed mainly as flat feet. Conclusions: Duchenne dystrophy is the most common neuromuscular disorder in children, with an incidence of 1 in 3679 male newborns. The lack of recognition of non specific symptoms such as retardation in independent walking and frequent falls as forms of presentation, is probably the most important cause of diagnostic delay. Strong recommendation is made to measure creatinphosphokinase and to study every male child that is not walking independently by the age of 18 months


Subject(s)
Humans , Infant, Newborn , Infant , Child, Preschool , Child , Muscular Dystrophies/diagnosis , Clinical Diagnosis , Chile , Dystrophin , Age of Onset , Muscle Weakness/etiology , Creatine Kinase , Muscular Dystrophies/physiopathology , Referral and Consultation/statistics & numerical data , Signs and Symptoms
9.
Rev. méd. Chile ; 125(2): 209-13, feb. 1997. tab, ilus
Article in Spanish | LILACS | ID: lil-194820

ABSTRACT

We report a 45 years old female with HTLV-I associated myelopathy, followed up for 10 years who, 5 years ago, developed personality changes and intellectual deterioration, assessed with the Wais-Benton test. She also had alterations in the electroencephalogram and a nuclear magnetic resonance imaging of the brain showed hypodensity in T1 and hyperdensity in T2 subcortical regions. The progression of intellectual impairement was related to an increase in proviral DNA, assessed with polymerase chain reaction


Subject(s)
Humans , Female , Adult , Human T-lymphotropic virus 1/pathogenicity , Paraparesis, Tropical Spastic/diagnosis , Polymerase Chain Reaction , Encephalitis, Viral/diagnosis , Dementia/etiology , Paraparesis, Tropical Spastic/complications
10.
Rev. chil. pediatr ; 66(5): 260-4, sept.-oct. 1995.
Article in Spanish | LILACS | ID: lil-164981

ABSTRACT

Con el objeto de dar más difusión y estimular el interés en la identificación y seguimiento de pacientes con estados epilépticos no convulsivos, se describen 5 pacientes de 6 a 18 años de edad, en quienes se comprobó, mediante electroencefalogramas seriados y regsitros de video-electroencefalograma, estado parcial complejo (2 pacientes), estado de ausencias (2 pacientes) y estado epiléptico del sueño (1 paciente). La forma clínica de presentación fue similar en todos, caracterizándose por alteración cualitativa de la conciencia o alteración de la conducta de al menos 24 horas de duración, concomitante con actividad epileptiforme en el electroencefalograma. La respuesta a tratamiento fue variable, observándose recurrencia de crisis en los dos casos de estado parcial complejo, persistencia de las manifestaciones clínicas en uno de los niños con estado de ausencia en el que sufría estado epiléptico del sueño. El estado epiléptico no convulsivo debe considerarse en el diagnóstico diferencial de cualquier alteración cualitativa de conciencia, especialmente en pacientes epilépticos


Subject(s)
Humans , Male , Female , Adolescent , Epilepsy, Absence/diagnosis , Status Epilepticus/diagnosis , Behavior , Concurrent Symptoms , Consciousness Disorders , Electroencephalography , Status Epilepticus/drug therapy , Return of Old Symptoms , Signs and Symptoms
11.
Rev. méd. Chile ; 123(6): 785-92, jun. 1995. tab, ilus
Article in Spanish | LILACS | ID: lil-156952

ABSTRACT

We assessed a screening instrument, adapted from a model suggested by WHO, aimed to perform population studies on the prevalence of cerebrovascular disease in Chile. Sixty-two subjects, 31 with cerebrovascular diseases and 31 without, were asked about symptoms and requested to do simple movements by trained interviewers. The results of the instrument were compared with a neurological examination performed by two specialists. Global sensitivity and specificity of the instrument, using WHO evaluation criteria, were 100 and 38.7 percent respectively. When three or more symptoms and one positive sign were considered as cutoff points, global specificity increased to 61 percent and sensitivity decreased to 93 percent. It is concluded that the present instrument is highly sensitive but lacks specificity


Subject(s)
Humans , Male , Female , Middle Aged , Cerebrovascular Disorders/epidemiology , Mass Screening , Cross-Sectional Studies , Predictive Value of Tests , Surveys and Questionnaires , Sensitivity and Specificity , Age Distribution , Sex Distribution , Neurologic Examination/methods
12.
Bol. méd. cobre ; 2(1/2): 38-42, 1989. ilus
Article in Spanish | LILACS | ID: lil-96505

ABSTRACT

Se realizó registro de presiones arteriales en una población de 400 niños de 5 a 15 años, aparentemente sanos, utilizando un procedimiennto de medición aplicable a nivel poblacional, que puede ser usado como método de screening y pesquisa precoz de HTA. Se determinó distribución de los valores en cifras tensionales según edad y sexo, y se compararon estos resultados con curvas establecidas mediante estudios previos. Un estudio mostró un progresivo incremento de los valores de presión arterial con la edad, sin diferencias significativas entre varones y mujeres. La cifras encontradas están dentro de límites normales, según otros estudios poblacionales. No se puede establecer rangos de variación por lo reducido de la muestra


Subject(s)
Child, Preschool , Child , Adolescent , Humans , Male , Female , Blood Pressure , Reference Values
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