RESUMEN
OBJECTIVE: To test the hypothesis that predisposition to childhood herpes simplex virus (HSV) type 1 encephalitis (HSE) may be determined in part by human genetic factors. STUDY DESIGN: A genetic epidemiologic survey of childhood HSE (onset at age 3 months to 15 years) over a 20-year period (1985-2004) was conducted throughout France (comprising 29 university hospital neuropediatric centers). A total of 85 children fulfilled the diagnostic criteria for inclusion. Family and personal histories were obtained by face-to-face interview for 51 patients. RESULTS: No familial cases of HSE were identified in our survey; however, a high proportion (20%) of the children interviewed had a relevant family history: parental consanguinity (12% of patients), early-onset herpetic keratitis in a first-degree relative (6%), or both (2%). The narrow window of high susceptibility to HSE before age 3 years (62% of patients) further indicates that predisposition to HSE is tightly age-dependent. CONCLUSIONS: This survey suggests that childhood HSE, although sporadic, may result from Mendelian predisposition (from autosomal recessive susceptibility in particular), at least in some children. There likely is incomplete penetrance, however, which may reflect, at least in part, the impact of age at the time of HSV-1 infection.
Asunto(s)
Encefalitis por Herpes Simple/genética , Encefalitis por Herpes Simple/virología , Variación Genética , Receptor Toll-Like 3/genética , Aciclovir/uso terapéutico , Adolescente , Factores de Edad , Edad de Inicio , Antivirales/uso terapéutico , Niño , Preescolar , Encefalitis por Herpes Simple/tratamiento farmacológico , Femenino , Predisposición Genética a la Enfermedad , Variación Genética/genética , Humanos , Lactante , Masculino , Factores de Riesgo , Simplexvirus , Adulto JovenRESUMEN
Neste trabalho foram estudados 10 recem-nascidos com crises convulsivas idiopaticas a partir da segunda semana de vida. Houve um grupo com evoluçao favoravel e outro grupo de evoluçao ruim. Foi possivel distinguir estes grupos, clinica e eletrograficamente desde o inicio das crises. Os pacientes de boa evoluçao tinham crises clonicas alternantes e seguiam os criterios de evoluçao favoravel definidas em literatura. Aqueles de ma evoluçao apresentavam crises unilaterais, nao alternantes com outras caracteristicas de ma evoluçao ja constantes na literatura: constatou-se entao que, de acordo com os dados obtidos existem Convulsoes Neonatais Idiopaticas Benignas Tardias com piso na 3a. semana de vida. Suas caracteristicas sao proximas as descritas entre as convulsoes neonatais benignas idiopaticas (CNNIB) com pico em torno do quinto dia. Provavelmente estas tardias sao variantes das CNNIB