RESUMO
Progressive hemifacial atrophyor Parry-Romberg syndromeis a rare disease, classified as one of the forms of localized morphea or scleroderma. Its cause is unknown. It is characterized by atrophy of the skin, fat, muscles and underlying osteocartilaginous structures that usually affects the face and neck unilaterally, and is associated with neurological symptoms (secondary epilepsy) and involvement of other organs and systems. Its course is slow and progressive and begins in the first two decades of life. Predilection for female sex has been observed. We report the case of a 10-year-old girl diagnosed at the Hipólito Unánue Hospital in Tacna, Peru. Knowledge of this condition is important in the differential diagnosis of localized morpheas or scleroderma.
La atrofia hemifacial progresiva o síndrome de Parry-Romberg es una enfermedad rara, clasificada como una de las formas de morfea o esclerodermia localizada. Su causa es desconocida. Se caracteriza por la atrofia de la piel, tejido celular subcutáneo, músculos y estructuras osteocartilaginosas subyacentes que afecta usualmente unilateralmente la cara y cuello, se asocia a síntomas neurológicos y afección de otros órganos y sistemas. Su curso es lento y progresivo y se inicia generalmente en las primeras dos décadas de la vida. Se ha observado predilección por el sexo femenino. Presentamos el caso de una niña de 10 años, diagnosticada en el Hospital Hipólito Unánue de Tacna, Perú.
Assuntos
Hemiatrofia Facial/diagnóstico , Esclerodermia Localizada/diagnóstico , Criança , Diagnóstico Diferencial , Hemiatrofia Facial/fisiopatologia , Feminino , Humanos , Peru , Doenças Raras/diagnóstico , Doenças Raras/fisiopatologia , Esclerodermia Localizada/fisiopatologiaRESUMO
Cystic Fibrosis (CF) is one of the most common single-gene defects in European descent populations with an incidence of about 1 in every 2500 live births and carrier frequency of approximately 1 in 25. The most common mutation at the CF transmembrane conductance regulator (CFTR) gene is a deletion (p.F508del) of the phenylalanine codon 508; its frequency, however, is not the same throughout the world. The purpose of this paper is to document an application of a two-tier survey design in different states of Brazil, from which regional differences of the incidence of CF and frequency of CF-causing mutation(s) carriers can be for the first time estimated. We present data on genotype distributions in reference to p.F508del mutation in samples of newborns, adult controls and CF patients from five Brazilian states, in which a total of 2683 newborns born to Brazilian white parents and 500 African-Brazilians adult controls were screened, as well as 300 CF patients (262 European descents and 38 African descents) were genotyped. Our results suggest that the CF-incidence in different parts of Brazil may differ by almost 20-fold. For the five different states as a whole, nearly 48% of the CF-alleles carry the p.F508del mutation, which places the estimates of disease incidence and carrier frequencies for the Brazilian European descents as 1 in 7576 live births and 2.3%, respectively. The implications for prevention of CF and other rare Mendelian diseases through such surveys of mutation screening are discussed.
Assuntos
Regulador de Condutância Transmembrana em Fibrose Cística/genética , Fibrose Cística/epidemiologia , Fibrose Cística/genética , Programas de Rastreamento , Adolescente , Adulto , População Negra/genética , Brasil/epidemiologia , Criança , Pré-Escolar , Feminino , Heterozigoto , Humanos , Incidência , Indígenas Sul-Americanos/genética , Lactente , Recém-Nascido , Masculino , Mutação/genética , Prevalência , Vigilância de Evento Sentinela , População Branca/genéticaRESUMO
The Kikuchi-Fujimoto disease is a rare disease that occurs mostly in young adults, although some cases have been reported in children. It is usually characterized by fever and cervical lymphadenopathy. The etiology of the disease remains unknown. Its course is usually benign and self-limited. It has special histopathological features that allow the differential diagnosis with other entities, which from a clinical point of view can be very complicated. We report a 9 years 11 months old girl with lymphadenopathy and fever with five months evolution, which is the longest evolution among the cases reviewed by the authors in world literature. Given that the presentation of this disease in children is very rare, we estimate that the knowledge of this disease is relevant and pediatricians must consider it in the differential diagnosis of fever of unknown origin in children.
La enfermedad de Kikuchi-Fujimoto es una entidad rara que se presenta principalmente en adultos jóvenes, aunque se han descrito algunos casos en la edad pediátrica. Se caracteriza por adenopatías generalmente cervicales y fiebre. La etiología de la enfermedad permanece desconocida. Su curso es generalmente benigno y autolimitado. Tiene características histopatológicas especiales que permiten el diagnóstico diferencial con otras entidades, lo que desde el punto de vista clínico puede ser muy complicado. Presentamos el caso de una niña de nueve años y 11 meses que cursó con adenopatías y fiebre de cinco meses de evolución. Este tiempo es el más prolongado entre los casos revisados por los autores en la literatura mundial (búsqueda en PubMed y SciELO por Kikuchi-Fujimoto Disease, histiocytic necrotizing lymphadenitis). Dado que la presentación de esta enfermedad en la edad pediátrica es muy rara, estimamos pertinente su conocimiento y consideración en el diagnóstico diferencial de la fiebre de origen desconocido en niños.
Assuntos
Febre/etiologia , Linfadenite Histiocítica Necrosante/diagnóstico , Linfadenopatia/etiologia , Criança , Diagnóstico Diferencial , Feminino , Linfadenite Histiocítica Necrosante/fisiopatologia , HumanosRESUMO
Identificar aquellos factores biológicos, clínicos, laboratoriales e imagenológicos que podrían servir como predictores (pronóstico) de resultado (muerte o secuela grave) en aquellos niños que sufren traumatismo encéfalo craneano moderado o grave. Metodología: Se realizó un estudio de tipo analítico, y de diseño observacional, retrospectivo y transversal que incluyó a los pacientes menores de 15 años que ingresaron a la Unidad de Cuidados Intensivos del Servicio de Pediatría del Hospital Nacional Dos de Mayo en Lima-Perú, entre el período del año 2006 al 2011. Resultados: Nuestro principal hallazgo consistió en la identificación de cuatro factores con capacidad de predicción (pronóstico): Tiempo de llegada al hospital mayor de 24 horas luego del evento, glicemia mayor de 200mg/dl, ausencia de respuesta ocular al estímulo y sexo femenino. La conjunción de estos cuatro factores en un niño con TEC moderado/severo atendido en la Unidad de Cuidados Intensivos Pediátricos del Hospital Nacional Dos de Mayo de la ciudad de Lima-Perú entre el período de 2006 a 2011 predijo con una probabilidad del 87,5 por ciento el mal resultado (muerte o secuela neurológica desfavorable). En el análisis univariado de las variables estudiadas no se obtuvo asociación estadísticamente importante entre los factores biológicos (edad, sexo, comorbilidad), clínicos (escala de Glasgow, estado de las pupilas, presión arterial sistólica, presión arterial diastólica, presión arterial media), datos laboratoriales (nivel de glicemia al ingreso) ni de los datos tomo gráficos (Score tomográfico de Marshall) con el resultado neurológico al egreso. Sí se obtuvo, en algunos casos un mayor riesgo relativo, sin embargo éste tampoco fue estadísticamente importante. Conclusiones: Como resultado del análisis multivariado de las variables estudiadas logramos identificar, como era nuestro objetivo principal, cuatro factores asociados y con potencial de predicción en los niños que ingresaron a la...
The aim of our investigation was to identify those biological, clinical, laboratory and imaging factors that could serve as predictors (forecast) outcome (death or severe sequel) in children who suffer mild traumatic brain injury or severe. Methods: An analytical study was performed with observational, retrospective and cross-sectional design that included patients younger than 15 years admitted to the Intensive Care Unit of the Department of Pediatrics, National Hospital Dos de Mayo in Lima-Peru, between the periods of 2006 to 2011. Results: Our main finding was the identification of four factors with predictability (forecast): Time of arrival to the hospital 24 hours after the event, blood sugar over 200mg/dl, absence of ocular response to stimulation and female gender. The combination of these four factors in a child with moderate/severe TEC treated in the Pediatric Intensive Care Unit of the National Hospital Dos de Mayo in Lima-Peru between the period of 2006 to 2011 predicted with a probability of 87.5 per cent poor outcome (death or poor neurologic sequel). Univariate analysis of the variables not found any statistically significant association between biological factors (age, sex, comorbidity), clinical factors (GCS, pupil status, systolic blood pressure, diastolic blood pressure, mean arterial pressure), laboratory data (blood glucose level on admission) or tomographic data (Score tomographic Marshall) with neurological outcome at discharge. In some cases a higher relative risk, if obtained however this was not statistically significant. Conclusions: As result of the multivariate analysis of the variables studied we identified four factors associated with predictability in children admitted to the Pediatric Intensive Care at National Hospital Dos de Mayo in Lima-Peru between the period 2006-2011. These are: time of arrival at the hospital later than 24 hours from the trauma, blood glucose 200mg/dl or higher at hospital income, absence...
Assuntos
Humanos , Masculino , Adolescente , Feminino , Pré-Escolar , Criança , Fatores de Risco , Prognóstico , Traumatismos Craniocerebrais/mortalidade , Estudos Observacionais como Assunto , Estudos Retrospectivos , Estudos TransversaisRESUMO
Objetivos: Avaliar a freqüência da tirosinemia neonatal transitória, com ou sem hiperfenilalaninemia secundária, observada através da triagem neonatal para erros inatos do metabolismo ("teste do pezinho"), e a necessidade de monitoramento e eventual intervençäo medicamentosa o/ou dietética em casos específicos. Métodos: Foram analisadas 457.870 amostras de sangue seco obtido por punçäo de calcâneo de crianças de 3 a 20 dias de vida, através de cromatografia qualitativa de aminoácidos em camada delgada. Os casos positivos foram confirmados quantitativamente em amostras séricas pelas dosagens fluorimétricas da tirosina e da fenilalanina. Resultados: 1.231 amostras de sangue seco impregnado em papel filtro apresentaram resultados positivos para tirosina na avaliaçäo cromatográfica. A análise sérica por método fluorimétrico revelou valores normais de tirosina e fenilalanina em 822 pacientes; os restantes 409 apresentaram tirosina elevada e foram divididos em três grupos de acordo com a concentraçäo de tirosina observada. Em 118 destes pacientes foram observados também níveis de fenilalanina superiores ao limite de referência. Conclusöes: A tirosinemia neonatal transitória é um distúrbio muito freqüente em recém-nascidos (1/372), sendo que em alguns casos também säo registrados elevados níveis de fenilalanina. Enquanto näo estiver demonstrado que esse achado é completamente inócuo, o monitoramento desses pacientes e o eventual emprego de medidas que reduzem os níveis de tirosina e fenilalanina devem ser considerados pelo pediatra.