RESUMO
Tuberous sclerosis is a multisystem autosomal-dominant disease characterized by hamartomatous growths in the brain, skin, kidneys, eyes, and heart, but it may affect almost any organ. Retinal hamartomas are 1 of the major diagnostic criteria for tuberous sclerosis and occur in approximately 50% of patients. Nonretinal findings include angiofibromas of the eyelid, strabismus, and pseudo-colobomas of the lens and iris. We report a case of a newborn with congenital eyelid angiofibroma mimicking complete congenital blepharoptosis that was revealed by central nervous system imaging to be part of the tuberous sclerosis complex.
Assuntos
Angiofibroma/diagnóstico , Blefaroptose/diagnóstico , Neoplasias Palpebrais/diagnóstico , Esclerose Tuberosa/diagnóstico , Angiofibroma/congênito , Blefaroptose/congênito , Neoplasias Palpebrais/congênito , GABAérgicos/uso terapêutico , Idade Gestacional , Humanos , Recém-Nascido , Imageamento por Ressonância Magnética , Masculino , Esclerose Tuberosa/tratamento farmacológico , Ácido Valproico/uso terapêutico , Vigabatrina/uso terapêuticoRESUMO
This multifactorial study investigates the interrelationships between head circumference (HC) and intellectual quotient (IQ), learning, nutritional status and brain development in Chilean school-age children graduating from high school, of both sexes and with high and low IQ and socio-economic strata (SES). The sample consisted of 96 right-handed healthy students (mean age 18.0 +/- 0.9 years) born at term. HC was measured both in the children and their parents and was expressed as Z-score (Z-HC). In children, IQ was determined by means of the Wechsler Intelligence Scale for Adults-Revised (WAIS-R), scholastic achievement (SA) through the standard Spanish language and mathematics tests and the academic aptitude test (AAT) score, nutritional status was assessed through anthropometric indicators, brain development was determined by magnetic resonance imaging (MRI) and SES applying the Graffar modified method. Results showed that microcephalic children (Z-HC < or = 2 S.D.) had significantly lower values mainly for brain volume (BV), parental Z-HC, IQ, SA, AAT, birth length (BL) and a significantly higher incidence of undernutrition in the first year of life compared with their macrocephalic peers (Z-HC > 2S.D.). Multiple regression analysis revealed that BV, parental Z-HC and BL were the independent variables with the greatest explanatory power for child's Z-HC variance (r(2) = 0.727). These findings confirm the hypothesis formulated in this study: (1) independently of age, sex and SES, brain parameters, parental HC and prenatal nutritional indicators are the most important independent variables that determine HC and (2) microcephalic children present multiple disorders not only related to BV but also to IQ, SA and nutritional background.
Assuntos
Encéfalo/crescimento & desenvolvimento , Cefalometria , Inteligência/fisiologia , Adolescente , Adulto , Antropometria , Testes de Aptidão , Encéfalo/patologia , Criança , Desenvolvimento Infantil/fisiologia , Chile , Escolaridade , Feminino , Humanos , Recém-Nascido , Imageamento por Ressonância Magnética , Masculino , Microcefalia/diagnóstico , Avaliação Nutricional , Gravidez , Efeitos Tardios da Exposição Pré-Natal , Desnutrição Proteico-Calórica/diagnóstico , Desnutrição Proteico-Calórica/psicologia , Psicometria , Fatores Socioeconômicos , Escalas de Wechsler/estatística & dados numéricosRESUMO
Se analiza la población de embarazadas controladas en el Consultorio Municipal de Putaendo entre enero y octubre de 1989. Se encuentra un buen control de seguimiento prenatal, alta atención profesional del parto y bajo porcentaje de cesárea y prematurez. Destacan la anemia y el bajo peso como las patologías más frecuentes del embarazo. Existe un deterioro socio-económico, con bajo índice de estratificación social, bajo nivel de instrucción, mala calidad de la vivienda y saneamiento ambiental menos aceptable en el universo estudiado