Guías Latinoamericanas de Infecciones Congénitas y Perinatales de la Sociedad Latinoamericana de Infectología Pediátrica (SLIPE). Parte II / Latin American Guidelines on Congenital and Perinatal Infections from the Latin-American Society of Pediatric Infectious Diseases (SLIPE). Part II

Las infecciones perinatales son una causa de morbilidad, tanto fetal como neonatal, y que compromete la salud de la mujer embarazada, por lo que su diagnóstico, tratamiento, e intento de eliminación son una prioridad en América Latina y el Caribe. Este documento representa la segunda entrega realizada por expertos en la región dentro de la Sociedad Latinoamericana de Infectología Pediátrica (SLIPE), brindando una mirada actualizada en el manejo de las infecciones congénitas y entrega herramientas para detectar posibles momentos estratégicos de intervención y cambio en el manejo de las infecciones congénitas.

Perinatal infections are a major cause of morbidity and mortality in the fetus, neonate, and the health of the pregnant woman. Diagnosis, treatment, and the search for elimination of these diseases are a priority in Latin America and the Caribbean. This document represents the second delivery by a group of experts in the region inside the Latin-American Society of Pediatric Infectious Diseases (SLIPE), presenting a up-to-date look into the management of congenital infectious diseases and give a tool to detect possible strategic sceneries and a change in the management of congenital infections in our region.

Síndrome nefrótico congénito. Reporte de caso y revisión del enfoque diagnóstico / Congenital nephrotic syndrome. Case report and review of its diagnostic work up

Resumen El síndrome nefrótico se define como la unión de proteinuria masiva, hipoalbuminemia e hiperlipidemia, que pueden asociarse a edemas e hipercoagulabilidad. Se origina de una anormalidad de la barrera de filtración glomerular con una fuga masiva de proteína y los efectos secundarios consecuentes. En sus formas primarias, ocurre con una incidencia de 1-3 por cada 100.000 niños menores de 16 años. La forma congénita es una variante poco frecuente del síndrome nefrótico, la cual se presenta en el nacimiento o dentro de los tres primeros meses de vida, y suele ser resistente a la corticoterapia. Se debe evaluar primero la existencia de infecciones congénitas y luego buscar las enfermedades monogénicas más comunes, finalmente se puede recurrir a la secuenciación de nueva generación para buscar mutaciones en los demás genes candidatos. Se presenta el caso de una niña con síndrome nefrótico congénito de difícil control, enfatizando en el proceso diagnóstico y el manejo de soporte. Se resalta la importancia de la asesoría genética a la familia en todos los casos.

Abstract A nephrotic syndrome is defined as the association of massive proteinuria, hypoalbuminemia and hyperlipidemia, which may be associated with edema and hypercoagulability. It originates from an abnormality of the glomerular filtration barrier with a massive protein leak and the consequent side effects. In its primary forms, it occurs with an incidence of 1 - 3 per 100,000 children under 16 years of age. The congenital form is a rare variant of the nephrotic syndrome, which occurs at birth or within the first three months of life and is usually resistant to corticosteroid therapy. Congenital infections and most common related monogenic diseases should be tested. Finally, new generation sequencing must be used to search for mutations in other candidate genes. We present the case of a girl with congenital nephrotic syndrome difficult to control, emphasizing the diagnostic process and support management. The importance of genetic counseling to the family in all cases is highlighted.

Criptococosis congénita en un neonato expuesto a VIH: presentación de un caso / Congenital cryptococcosis in a newborn exposed to HIV: A case report

La criptococosis puede afectar niños de todas las edades, especialmente aquellos inmunocomprometidos. Usualmente se adquiere a través de la inhalación de esporas del medio ambiente, aunque existen otras formas de transmisión. Describimos un caso de criptococosis congénita adquirido de una madre con síndrome de inmunodeficiencia adquirida (SIDA) y tratado en forma exitosa con combinación de antimicoticos.

Cryptococcosis may affect children of all ages, specially those who are inmunocompromised. It is usually acquired from the inhalation of environmental spores, although other sources of transmission exist. We describe a case of congenital cryptococcosis transmitted from a mother with acquired immunodeficiency syndrome (AIDS), which was successfully treated with combination antifungal agents.

Infecciones congénitas de baja frecuencia en los neonatos. Algunos aspectos relevantes / Congenital infections of low frequency in newborns: some relevant aspects

La finalidad del presente artículo es actualizar, respecto a un trabajo previo, la información existente sobre 13 padecimientos adquiridos por el neonato a través de la vía transplacentaria. El objetivo de esta revisión no es realizar una descripción sistematizada y detallada de cada uno de estos padecimientos sino, más bien, mencionar algunos hechos relevantes que le permitan al médico general y al pediatra pensar en ellos, utilizando algunos datos relevantes sobre la fisiopatogenia, las manifestaciones clínicas o los exámenes de laboratorio; más cuando existe la probabilidad o se tiene la certeza de que la madre desarrolló alguna de estas enfermedades durante la gestación. Se escogieron estos 13 padecimientos porque algunos son de baja frecuencia en el mundo; porque no se han reportado casos en la literatura nacional o porque el número de mujeres en edad fértil que los padecen en México permite pensar que, basados en la frecuencia de transmisión congénita, deberían reportarse mayor número de casos de los que habitualmente se reportan.

This article aims to update a previous study involving approximately 13 diseases acquired transplacentally by the newborn. We did not perform a systematized and detailed description of each condition in this review, but rather we mention some facts that will enable the general practitioner and pediatrician to keep these in mind, using some highlights on the demonstration of the physiopathogeny, clinical or laboratory tests and, even more so, with the probability or certainty that the mother developed any of the diseases during pregnancy. These 13 diseases were selected because 1) some appear in a low frequency worldwide, 2) there are no reported cases in the national literature, or 3) the number of women in Mexico of childbearing age experiencing them. It prompts us to think that, based on the frequency of congenital transmission, there should be more cases than what is actually reported.

Vertical Transmission of HIV-An Update.

One of the greatest successes in AIDS research to date has by far been the discovery of successful interventions that interrupt the transmission of HIV from mother to child. It is however important to note that these successes have occurred largely in countries with great resources and the least burden of perinatal transmission of HIV. In the developing world wherein currently 95% of vertical transmission of HIV occurs, it is highly condemnable that still every minute an infected infant is said to be born in spite of the fact that vertical transmission is largely preventable, mainly because translating knowledge into practice is not always possible or feasible; This has led to a continuous growing numbers of children with HIV, thereby making pediatric HIV a looming problem rapidly draining the already burdened health care system of these countries. It is the need of the hour to appropriately address the challenges to achieve zero percent transmission of HIV from an infected mother to her child thereby giving a hope for an AIDS-free new generation worldwide.

Prevalence of toxoplasmosis, HIV, syphilis and rubella in a population of puerperal women using Whatman 903® filter paper

OBJECTIVES: to determine the seroprevalence rate of toxoplasmosis, HIV, syphilis and rubella in a population of puerperal women. METHODS: a prospective, cross-sectional study was performed from February 2007 to April 2008 at Hospital Geral, Universidade de Caxias do Sul in a population of 1,510 puerperal women. Women that gave birth to live born or stillborn infants were included in the study; maternal and perinatal variables were analyzed. Descriptive statistics and Pearson's chi-square with occasional Fisher's correction were used for comparisons. Alpha was set in 5 percent. RESULTS: a total of 148 cases of congenital infection (9.8 percent) were identified: 66 cases of syphilis (4.4 percent), 40 cases of HIV (2.7 percent), 27 cases of toxoplasmosis (1.8 percent) and 15 cases of rubella (1.0 percent). In ten cases there was co-infection (four cases of HIV and syphilis, two cases of HIV and rubella, one case of HIV and toxoplasmosis, two cases of rubella and syphilis, and one case of toxoplasmosis and rubella). In a comparison between puerperal women with and without infection there was no statistical significance in relation to incidence of abortions, small for gestational age, prematurity, live births and stillbirths, and prenatal care. Need of neonatal intensive care unit (NICU), maternal schooling, maternal age higher than 35 years and drug use (alcohol, cocaine and crack) had statistical significance. CONCLUSION: the prevalence rate of infections was 9.8 percent. Need of NICU, maternal schooling lower than eight years, maternal age higher than 35 years and drug use were significantly associated with occurrence of congenital infection.

Growth and Development of Infants with Asymptomatic Congenital Cytomegalovirus Infection

PURPOSE: To observe changes in audiology, intellectual development, behavior development, and physical growth during systematic follow-up of infants with asymptomatic congenital human cytomegalovirus (HCMV) infection. MATERIALS AND METHODS: Fifty-two infants diagnosed with asymptomatic congenital HCMV infection from July 2003 to July 2007 served as the infection group, and 21 healthy infants served as the control group. All infants were confirmed to have HCMV infection by Fluorescent Quantative polymerase chain reaction (FQ-PCR). In both the infection and control groups, the neonates and infants at 3 months, 6 months, and 1 year of age underwent examinations. RESULTS: 1) 20 items of National Black Nurses Association (NBNA) scores of neonates 12-14 days after birth in 2 groups were 38.3 +/- 1.95 and 38.5 +/- 2.29, without significant differences. 2) Auditory test: 50 ears of 25 cases in the infection group showed abnormal auditory thresholds in V waves with an abnormal rate of 14%, while no abnormalities were found in 21 cases in the control group. 3) Mental and psychomotor development index scores in the control group (107.49 +/- 11.31 and 107.19 +/- 10.98) were compared with those in 41 asymptomatically infected infants at 1 year of age (107.21 +/- 9.96 and 108.31 +/- 11.25), and no statistically significant difference was noted. CONCLUSION: 1) An elevated threshold in the V wave was present in asymptomatically infected infants, but could not be detected through otoacoustic emission (OAE) screening. 2) Either in the neonatal or infant periods, asymptomatic congenital HCMV infection did not have a significant influence on nervous behavior or on physical and intellectual development.

Perfil sorológico para toxoplasmose em gestantes atendidas em maternidade / Serologic profile of toxoplasmosis in pregnant women attended at a teaching-hospital in Recife

OBJETIVOS: Determinar o perfil sorológico para toxoplasmose e identificar os principais fatores associados à susceptibilidade (pacientes com imunoglobulinas IgG e IgM ausentes) em gestantes atendidas em uma maternidade-escola do Recife. MÉTODOS: Realizou-se um estudo de corte transversal, incluindo 503 gestantes submetidas à sorologia para toxoplasmose no IMIP (Recife), no período de outubro de 2004 a abril de 2005. Realizou-se imunofluorescência indireta para pesquisa de IgG e IgM e um breve questionário foi aplicado às pacientes, descrevendo-se identificação, características demográficas e obstétricas, antecedentes mórbidos relevantes, hábitos de vida e tipo de moradia. Para análise estatística, utilizaram-se os testes Qui quadrado de associação e exato de Fisher, com um nível de significância de 5 por cento. RESULTADOS: Constatou-se imunidade para toxoplasmose em 74,7 por cento, susceptibilidade em 22,5 por cento e "possível" infecção ativa em 2,8 por cento das gestantes. Não se encontrou associação estatisticamente significativa entre susceptibilidade para toxoplasmose e idade, procedência, condições mórbidas, hábitos, condições de habitação, rede de esgotos, criação de animais domésticos, número de gestações e idade gestacional. Verificou-se uma associação significativa entre susceptibilidade para toxoplasmose e escolaridade, com uma maior freqüência de susceptibilidade entre mulheres com oito ou mais anos de estudo. CONCLUSÃO: A freqüência de susceptibilidade para toxoplasmose é relativamente baixa entre pacientes atendidas no pré-natal em nosso meio e nenhum outro fator preditivo além da escolaridade foi identificado.

OBJECTIVES: To determine the serologic profile of toxoplasmosis and the main factors associated with susceptibility (patients without IgM and IgG antibodies) in pregnant women attended at a teaching-hospital in Recife, Brasil. METHODS: A cross-sectional study was carried out, enrolling 503 pregnant women submitted to serology for toxoplasmosis at IMIP (Recife) from October 2004 to April 2005. Anti-Toxoplasma IgG and IgM antibodies were studied by IFA. A short questionnaire was administered to patients to provide identification, demographic and obstetrical characteristics, past history of morbidity, habits and dwelling conditions. The chi-square and Fisher-exact tests were used at a 5 percent level of significance. RESULTS: Immunity for toxoplasmosis was present in 74.7 percent, susceptibility in 22.5 percent and "possible" active infection in 2.8 percent of patients. No significant associations were observed between toxoplasmosis susceptibility and age, location, conditions of morbidity, habits, dwelling conditions and sewage system, living with animals, pregnancy and gestational age. A significant association between toxoplasmosis susceptibility and schooling was found, with a higher frequency of susceptibility among women with eight or more years of schooling. CONCLUSION: Susceptibility for toxoplasmosis was relatively low in these prenatal patients and schooling was the only identifiable predictive factor.

Lesiones cutáneas no cicatrizales como único dato clínico del síndrome de varicela congénita: reporte de un caso / Non-scal skin lesions as the only clinical evidence avalaible for the diagnosis of congenital chicken pox syndrome. Case report

Introducción. Los casos de infección con el virus de varicela zoster en el embarazo pueden tener un curso clínico grave, tanto para la madre como para el producto, con la probabilidad de transmisión vertical del virus y el desarrollo subsiguiente de varicela congénita o varicela neonatal. El síndrome de varicela congénita (SVC) fue descrito en 1947, desde entonces un poco más de 60 casos han sido reportados. Éste consiste en un espectro de anormalidades que incluyen cicatrices con distribución en dermatomas, anormalidades oculares y deformidades en extremidades. Caso clínico. Se describe un raro caso de SVC con compromiso dermatológico, pero sin otras lesiones al nacimiento. La madre padeció varicela en la semana 10 de la gestación. No se encontró algún reporte de recién nacidos con SVC en México. Conclusión. La característica especial del caso es la presencia de lesiones no cicatrizales como único dato clínico, corroborado con serología positiva contra el virus varicela zoster.

Introduction. Varicella infections cases in pregnant women may have a more severe clinical course, and there is also the risk of vertical transmission of the viral infection, with the subsequent development of congenital or neonatal varicella. Cases of congenital varicella syndrome (CVS) were first described in 1947, since then, a little more than 60 cases of CVS have been reported. The CVS consists of a spectrum of anomalies including scaring with derma to mal distribution, ocular abnormalities and limb deformities. Case report. An unusual case of CVS with dermatologic involvement, but without other injuries at birth is described. The mother contracted chicken pox at 10 weeks' gestation. We didn't find any previous report of newborns with CVS in Mexico. Conclusion. The particular condition of this case is the presence of non cicatricial injuries as only clinical data, supported by a positive serology against varicella-zoster virus.