ABSTRACT
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Subject(s)
Female , Humans , Male , Severe Dengue/transmission , Severe Dengue/virology , Spain/epidemiology , Aedes/cytology , Aedes/virology , Chikungunya Fever/transmission , Severe Dengue/blood , Severe Dengue/pathology , Aedes/classification , Aedes/metabolism , Chikungunya Fever/virologyABSTRACT
El síndrome LEOPARD es una enfermedad autosómica dominante producida por mutaciones germinales en la vía RAS-MAPK. El acrónimo agrupa las manifestaciones más importantes de la enfermedad (Lentiginosis, ECG conduction anomalies, Ocular hypertelorism/hypertrophic Obstructive cardiomyopathy, Pulmonary stenosis, Abnormalities of genitalia, growth Retardation and Deafness), pero ninguna de ellas es patognomónica ni constante, por lo que muchos pacientes no las presentan en el momento del diagnóstico. Presentamos 2 casos de síndrome LEOPARD sin sordera ni estenosis pulmonar en los que la detección de la mutación en el gen PTPN11 permitió confirmar la enfermedad, y señalamos la importancia del seguimiento continuado para la detección precoz de las complicaciones, ya que las mismas pueden aparecer en el transcurso de la enfermedad
LEOPARD syndrome is an autosomal dominant disease caused by germline mutations in the RAS-MAPK (mitogen-activated protein kinase) pathway. LEOPARD is an acronym for the main manifestations of the syndrome, namely, multiple Lentigines, Electrocardiographic conduction abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormalities of genitalia, Retardation of growth, and sensorineural Deafness. None of these characteristic features however, are pathognomonic of LEOPARD syndrome, and since they are highly variable, they are often not present at the time of diagnosis. We describe 2 cases of LEOPARD syndrome without hearing loss or pulmonary stenosis in which diagnosis was confirmed by identification of a mutation in the PTPN11 gene. Regular monitoring is important for the early detection of complications, as these can occur at any time during the course of disease
Subject(s)
Child , Humans , Male , LEOPARD Syndrome/diagnosis , Deafness/epidemiology , Pulmonary Valve Stenosis/epidemiology , Cafe-au-Lait Spots/epidemiology , Lentigo/epidemiologyABSTRACT
El dengue es causado por uno de 4 serotipos del virus dengue. En España, solo se han comunicado casos importados. Las manifestaciones clínicas más frecuentes son fiebre y exantema, aunque puede haber formas graves, especialmente en infecciones secundarias. Presentamos a 5 niños con dengue no grave, infección primaria, diagnosticados por sospecha clínica y antecedente epidemiológico mediante inmunocromatografía y ELISA. Evolución favorable en todos los casos. Es importante considerar este diagnóstico en todo viajero internacional que presenta fiebre dentro de los 14 días tras volver de un área endémica, para un diagnóstico precoz, un adecuado tratamiento y un buen pronóstico
Dengue is caused by one of 4 serotypes of dengue virus. Only imported cases have been reported in Spain. The main clinical findings are fever and exanthema, although there may be severe forms, particularly in secondary infections. Five children with a primary, non severe dengue infection are presented. The diagnosis was based on clinical suspicion and epidemiological history, and confirmed by immunochromatography and ELISA tests. The outcome was favourable in all cases. It is important to consider this diagnosis in international travellers that present with fever within the 14 days of returning from an endemic area, in order to get an early diagnosis, adequate treatment and a good prognosis
