Situación actual de la infección pediátrica por virus de la inmunodeficiencia humana en España / Current situation of paediatric human immunodeficiency virus infection in Spain

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Guía de la Sociedad Española de Infectología Pediátrica para el diagnóstico y tratamiento de la toxoplasmosis congénita / The Spanish Society of Pediatric Infectious Diseases Guidelines for the diagnosis and treatment of congenital toxoplasmosis

La toxoplasmosis congénita es la consecuencia de la transmisión fetal por vía transplacentaria de Toxoplasma gondii tras la primoinfección materna. El riesgo de infección fetal es bajo en infecciones en el primer trimestre y va aumentando con la edad gestacional, mientras que la gravedad de la infección disminuye con esta. El diagnóstico de infección materna se realiza mediante la demostración de seroconversión o ante la presencia de IgM positiva con anticuerpos IgG de baja avidez. Las gestantes con infección demostrada deben recibir espiramicina para intentar evitar su transmisión al feto. El diagnóstico de infección fetal se realiza mediante reacción en cadena de la polimerasa (PCR) en líquido amniótico obtenido a partir de la semana 18 de gestación. Si esta prueba resulta positiva, debe iniciarse tratamiento a la embarazada con pirimetamina, sulfadiazina y ácido folínico. La mayoría de los niños infectados nacen asintomáticos pero hasta el 80% desarrolla secuelas visuales o neurológicas durante su infancia y adolescencia. El diagnóstico neonatal es complicado porque los anticuerpos IgM e IgA y la PCR en sangre y líquido cefalorraquídeo pueden ser falsamente negativos. En estos casos, el diagnóstico puede realizarse mediante la constatación de un ascenso significativo de los anticuerpos IgG o la persistencia de los mismos después del año de vida. El tratamiento neonatal con pirimetamina y sulfadiazina disminuye la posibilidad de secuelas a largo plazo. La toxoplasmosis congénita es una enfermedad prevenible mediante el cribado pregestacional y la adopción de medidas de profilaxis primaria en las gestantes seronegativas (AU)

Congenital toxoplasmosis is the result of transplacental fetal infection by Toxoplasma gondii after the primary maternal infection. The severity of the disease depends on the gestational age at transmission. First trimester infections are more severe, but less frequent, than third trimester infections. Acute maternal infection is diagnosed by seroconversion or by the detection of IgM antibodies and a low IgG avidity test. In these cases, spiramycin should be initiated to prevent transmission to the fetus. For identification of fetal infection, polymerase chain reaction (PCR) testing of amniotic fluid after 18 weeks gestation should be performed. If fetal infection is confirmed, the mothers should be treated with pyrimethamine, sulfadiazine and folinic acid. Most infants infected in utero are born with no obvious signs of toxoplasmosis, but up to 80% developed learning and visual disabilities later in life. Neonatal diagnosis with IgM/IgA antibodies or blood/cerebrospinal fluid PCR may be difficult because false-negative results frequently occur. In these cases diagnosis is possible by demonstrating a rise in IgG titers during follow-up or by the detection of antibodies beyond one year of age. Early treatment with pyrimethamine and sulfadiazine may improve the ophthalmologic and neurological outcome. Congenital toxoplasmosis is a preventable disease. Pre-pregnancy screening and appropriate counseling regarding prevention measures in seronegative women may prevent fetal infection (AU)

Consultas pediátricas en urgencias por pinchazo accidental con agujas o jeringas desechadas / Pediatric emergencies for accidental needlestick injuries from discarded syringes

Se describen las características de las consultas en urgencias entre 2000 y 2010 por pinchazo accidental y se analiza la probabilidad de seroconversión para los virus de la hepatitis B (VHB), C (VHC) y el virus de la inmunodeficiencia humana (VIH). Se revisan160 pacientes; 108 (67,5%) son varones; la edad mediana es de 6,3 (p25-p75: 4,8-9,1) años. La incidencia es de 1,2 (p25-75: 0,8-2,0) consultas por pinchazo accidental/10.000 consultas y año, con tendencia a decrecer. Los accidentes se produjeron con mayor frecuencia en los parques y los dedos de las manos fueron el sitio anatómico más afectado. En la muestra estudiada es nulo el riesgo de transmisión para los virus estudiados (AU)

To describe the characteristics of visits to a pediatric emergency department after accidental needlestick injuries and between 2000 and 2010 to estimate the likelihood of hepatitis B and C virus or human immunodeficiency virus seroconversion. A total of 160 cases were studied; 108 patients (67.5%) were boys. The median age (25th-75thpercentile) was 6.3 (4.8-9.1) years. The department attended a median of 1.2 (0.8-2.0) patients with accidental needle puncture per 10 000 visits annually. The incidence tended to decrease over time. Accidents occurred most often in parks, and fingers were the most common place of puncture. No seroconversions occurred (AU)

[The Spanish Society of Pediatric Infectious Diseases Guidelines for the diagnosis and treatment of congenital toxoplasmosis]. / Guía de la Sociedad Española de Infectología Pediátrica para el diagnóstico y tratamiento de la toxoplasmosis congénita.

Congenital toxoplasmosis is the result of transplacental fetal infection by Toxoplasma gondii after the primary maternal infection. The severity of the disease depends on the gestational age at transmission. First trimester infections are more severe, but less frequent, than third trimester infections. Acute maternal infection is diagnosed by seroconversion or by the detection of IgM antibodies and a low IgG avidity test. In these cases, spiramycin should be initiated to prevent transmission to the fetus. For identification of fetal infection, polymerase chain reaction (PCR) testing of amniotic fluid after 18 weeks gestation should be performed. If fetal infection is confirmed, the mothers should be treated with pyrimethamine, sulfadiazine and folinic acid. Most infants infected in utero are born with no obvious signs of toxoplasmosis, but up to 80% developed learning and visual disabilities later in life. Neonatal diagnosis with IgM/IgA antibodies or blood/cerebrospinal fluid PCR may be difficult because false-negative results frequently occur. In these cases diagnosis is possible by demonstrating a rise in IgG titers during follow-up or by the detection of antibodies beyond one year of age. Early treatment with pyrimethamine and sulfadiazine may improve the ophthalmologic and neurological outcome. Congenital toxoplasmosis is a preventable disease. Pre-pregnancy screening and appropriate counseling regarding prevention measures in seronegative women may prevent fetal infection.

[Griscelli-Prunieras syndrome: report of two cases]. / Síndrome de Griscelli-Prunieras: a propósito de dos casos.

Griscelli-Prunieras syndrome (GS) is a rare autosomal recessive disorder characterized by partial albinism. His pathogenic mechanism is associated with defects in the packaging of melanin and other cellular proteins. GS is classified into 3 types based on the genetic and molecular features. Mutations in the genes which cause GS are known. We report two first cases described in Spain who presented a silver-gray sheen of the hair and a severe immune disorder. They were studied for mutations principally related to this syndrome. Two patients showed the Rab27a mutation (frequently associated with GS2). The natural disorder evolution differs considerably among the various forms, so a genetic study is essential in GS to achieve the most accurate prognosis and treatment possible.

Síndrome de Griscelli-Prunieras: a propósito de dos casos / Griscelli-Prunieras syndrome: report of two cases

El síndrome de Griscelli-Prunieras (SGP) es una rara entidad de herencia autonómica recesiva que se presenta con albinismo parcial. Su patogenia se explica por alteraciones en los genes que regulan el transporte de melanosomas. Se han descrito tres tipos en base a sus características genéticas y moleculares. Se conocen las mutaciones relacionadas con este síndrome. A continuación presentamos dos pacientes, no descritos anteriormente en España, que presentaban un cabello gris-plateado característico e inmunodeficiencia cuyo estudio genético demostró la mutación en el gen Rab27A (asociado al SG2). El pronóstico y tratamiento difiere considerablemente entre las diferentes formas de la enfermedad, por lo que el diagnóstico genético precoz es fundamental para poder establecer un pronóstico y tratamiento adecuados (AU)

Griscelli-Prunieras syndrome (GS) is a rare autosomal recessive disorder characterized by partial albinism. His pathogenic mechanism is associated with defects in the packaging of melanin and other cellular proteins. GS is classified into 3 types based on the genetic and molecular features. Mutations in the genes which cause GS are known. We report two first cases described in Spain who presented a silver-gray sheen of the hair and a severe immune disorder. They were studied for mutations principally related to this syndrome. Two patients showed the Rab27a mutation (frequently associated with GS2). The natural disorder evolution differs considerably among the various forms, so a genetic study is essential in GS to achieve the most accurate prognosis and treatment possible(AU)

[Course and treatment of progressive subacute encephalopathy caused by human immunodeficiency virus in children. The value of Botulinum toxin]. / Evolución y tratamiento de la encefalopatía subaguda progresiva por virus de inmunodeficiencia humana en el niño. Utilidad de la toxina botulínica.

INTRODUCTION: Progressive subacute encephalopathy due to human immunodeficiency virus (PSE-HIV) is an important cause of morbidity and mortality in perinatal HIV infection. Although current combined antiretroviral therapies do manage to check its progression, they often give rise to severe motor sequelae that are similar to the spastic infantile cerebral palsy resulting from other aetiologies. We present the case reports of four preschool age children suffering from this pathology who have benefited from long term treatment with botulinum toxin type A (BTA). CASE REPORTS: Four patients suffering from early onset PSE HIV, who responded well to combined antiviral therapies, and who had severe motor sequelae (two cases of tetraparesis and two spastic dysplegias), with no cognitive disorders. The multidisciplinary treatment of their motor disorder included six monthly sessions of muscular injections of BTA in the usual doses, with good results from the functional point of view and with no significant side effects. DISCUSSION: PSE-HIV is defined by one of the following criteria: acquired microcephalus, retarded neurological development or symmetrical motor involvement. It constitutes one of the most frequent diagnostic criteria of AIDS in patients infected by vertical transmission. An early diagnosis and treatment are fundamental for the patient's prognosis. Severe motor sequelae in the form of spastic infantile cerebral palsy are frequent. In our experience treatment of the spasticity associated to this entity with BTA has proved to be useful and safe, with a clear improvement in gait functionality.

Evolución y tratamiento de la encefalopatía subaguda progresiva por virus de inmunodeficiencia humana en el niño. Utilidad de la toxina botulínica / Course and treatment of progressive subacute encephalopathy caused by human immunodeficiency virus in children. The value of botulinum toxin

Introducción. La encefalopatía subaguda progresiva por virus de inmunodeficiencia humana (ESP-VIH) es una causa importantedemorbimortalidadenlainfecciónperinatalporVIH.Aunquelos tratamientos antirretrovirales combinados actuales consiguen frenar su evolución, a menudo produce graves secuelas motoras similares a la parálisis cerebral infantil espástica de otras etiologías. Presentamos los casos clínicos de cuatro preescolares afectados de esta patología que se han beneficiado de un tratamiento a largo plazo con toxina botulínica de tipo A (TBA). Casos clínicos. Cuatro pacientes afectados de ESP-VIH de inicio precoz, con buena respuesta a las terapias antirretrovirales combinadas y graves secuelas motoras (dos tetraparesias y dos displejías espásticas), sin afectación cognitiva. El tratamiento pluridisciplinar de su afectación motora ha incluido sesiones semestrales de inyecciones musculares de TBA con las dosis habituales, con buenos resultados desde el punto de vista funcional y sin efectos adversos mayores. Discusión. La ESP-VIH se define por uno de los criterios siguientes: microcefalia adquirida, retraso en el desarrollo neurológico o afectación motora simétrica. Es uno de los criterios diagnósticos de sida más frecuentes en los pacientes infectados por transmisión vertical. Un diagnóstico y tratamiento precoces son básicos para el pronóstico del enfermo. Son frecuentes las secuelas motoras graves en forma de parálisis cerebral infantil espástica. En nuestra experiencia, el tratamiento de la espasticidad asociada a esta entidad con TBA se ha mostrado útil y seguro, con una mejora franca de la funcionalidad de la marcha (AU)

Introduction. Progressive subacute encephalopathy due to human immunodeficiency virus (PSE-HIV) is an important cause of morbidity and mortality in perinatal HIV infection. Although current combined antiretroviral therapies do manage to check its progression, they often give rise to severe motor sequelae that are similar to the spastic infantile cerebral palsy resulting from other aetiologies. We present the case reports of four preschool-age children suffering from this pathology who have benefited from long-term treatment with botulinum toxin type A (BTA). Case reports. Four patients suffering from early onset PSE-HIV, who responded well to combined antiviral therapies, and who had severe motor sequelae (two cases of tetraparesis and two spastic dysplegias), with no cognitive disorders. The multidisciplinary treatment of their motor disorder included six-monthly sessions of muscular injections of BTA in the usual doses, with good results from the functional point of view and with no significant side effects. Discussion. PSE-HIV is defined by one of the following criteria: acquired microcephalus, retarded neurological development or symmetrical motor involvement. It constitutes one of the most frequent diagnostic criteria of AIDS in patients infected by vertical transmission. An early diagnosis and treatment are fundamental for the patient’s prognosis. Severe motor sequelae in the form of spastic infantile cerebral palsy are frequent. In our experience treatment of the spasticity associated to this entity with BTA has proved to be useful and safe, with a clear improvement in gait functionality (AU)

Utilidad del estudio de resistencias a antirretrovirales en el control de los pacientes pediátricos / Utility of studying antiretroviral resistance in the monitoring of pediatric patients

El control y el tratamiento de los pacientes infectados por el virus de la inmunodeficiencia humana tipo 1 (VIH-1) han experimentado importantes cambios en los últimos años. La posibilidad de cuantificar la replicación del VIH-1 y la introducción de nuevos fármacos con actividad antirretroviral, han permitido aumentar la eficacia de los tratamientos, mejorar la supervivencia y disminuir la mortalidad de los pacientes infectados. El estudio de resistencias a los distintos fármacos puede resultar de gran utilidad en el control de los pacientes infectados que reciben antirretrovirales y no consiguen inhibir de forma completa la replicación viral y en aquellos casos de infección aguda para optimizar la pauta terapéutica. En esta revisión se presentan una serie de indicaciones para aplicar en el estudio de resistencias en niños (AU)

[Vertical transmission of human immunodeficiency virus: six years of development 1987-1992)]. / Transmisión vertical del virus de la inmunodeficiencia humana: seis años de evolución (1987-1992).

BACKGROUND: According to World Health Organization estimates, from the beginning of the epidemics to the end of 1994, the number of children infected by human immunodeficiency virus (HIV) was 1.5 million. This paper describes the evolution of some clinical and epidemiologic characteristics of vertically transmitted HIV infection. PATIENTS AND METHODS: All children born to HIV-infected mothers who delivered at a university hospital in Barcelona, Spain, between 1987 and 1992, were included in the study. Rates of HIV vertical transmission, HIV infection incidence and mortality due to HIV were estimated, and trends for the study period analyzed. Odds ratios were used to assess associations between variables. RESULTS: 192 newborns were identified and allocated, with respect to the year of birth, in three cohorts of 71, 58 and 63 children. Overall HIV vertical transmission rate was 16.5% and did not differ between cohorts. Infection incidence density rates increased over time (0.2, 4.9 and 8.1 cases/100 child-years, respectively; p = 0.016), while incubation periods decreased significantly (248, 103 and 114 days; p = 0.0004). There were no changes in mortality density rates (2.2 deaths/100 child-years). Regarding mothers' characteristics, a significant temporal trend (p < 0.001) for being older at delivery, belonging to the heterosexual transmission group and having symptomatic infection was observed over time. CONCLUSIONS: Certain clinical and epidemiologic aspects of HIV vertical transmission have changed over time, however the number of new cases has remained fairly constant. In our setting, both early diagnosis and clinical management of these children have improved, but primary prevention for HIV vertical transmission has not been effective. Better counselling for HIV-infected women of childbearing age is needed.

[Features in human immunodeficiency virus type 1 in the neonatal period]. / Manifestaciones de la infección por el virus de la inmunodeficiencia humana tipo 1 en el período neonatal.

UNLABELLED: Different patterns of disease expression have been found in pediatric HIV1 infection. The precise timing of vertical transmission of HIV1 cannot be pinpointed. Some studies suggests that a substantial proportion of infants are infected during gestation are likely to have more extensive infection and thus more accelerated disease that infants who become infected during labor or delivery. PATIENTS: We examined the clinical manifestations and laboratory findings in seven newborns with HIV1 infection. RESULTS: In all patients, have been bound clinical or laboratory features at birth. Five newborn was prematurely (71.4%). The most common clinical findings in this group was: hepatomegaly (6/7), failure to drive (6/7), esplenomegaly (5/7) and limphadenopaties (5/7). The laboratory findings was: trombopeny and cellular immunosuppression (5/7). The HIV1 infection was determined by detection of p24 antigen, chain reaction polymerase or viral cocultive in blood in the first day of live. The mortality in this group was the 70% in the first year of life. COMMENTS: This results suggest that the timing of HIV1 infection was intrauter. This group has an accelerated disease course, developing manifestations of AIDS in first month of life and dying earlier. Although, a variety of maternal and fetal factors may contributed to the intrauter infection, for example the characteristics of the mother's infection, immune status, level of HIV1-neutralizing antibody, p24 antigaenemia prematurity and others.

[Vertical transmission of HIV: descriptive epidemiology, risk factors and survival (II)]. / Transmisión vertical del VIH: epidemiología descriptiva, factores de riesgo y supervivencia (II).

Up until November 30, 1990, 415 children born to HIV-positive mothers were followed in order to study the vertical transmission rate and the survival of those infected, as well as the associated risk factors. According to CDC criteria, 264 children could be considered definitely classified, with 82 classified as infected (transmission rate: 31.1%) and 182 as sero-negative. The remaining 151 infants were younger than 15 months and classified as PO. Ninety percent of the studied mothers were infected through either the use of intravenous drugs or by sexual intercourse with HIV infected partner. The loss-of-antibody median age was one year. The median for the incubation period was 285 days, with a significant bimodal distribution regarding the child's age at diagnosis. Although the median survival time was longer than the study period, the fatality rate was estimated to be 22.0% and the percentage of children reaching age 4, 27%.

[Vertical transmission of HIV infection: descriptive epidemiology, risk factors and survival]. / Transmisión vertical del VIH: epidemiología descriptiva, factores de riesgo y supervivencia (I).

The basic epidemiological characteristics of HIV infection and AIDS among children are described with a particular reference to HIV vertical transmission. The HIV transmission pattern identified in our community is described according to the WHO classification scheme. To describe the epidemic, as well as its temporal evolution, 1.933 cases reported to the population based registry of Catalonia and 287 seropositive children and their mothers are used. We have quantified the importance of intravenous drug usage by the parents in relationship to HIV transmission; 54.7% of the mothers of HIV positive children were intravenous drug users. We predict that during the coming years there will be a continuous increase in AIDS cases as a result of vertical transmission.

[Maternal-fetal transmission of HIV in Catalonia and the Balearic Islands]. / Transmisión materno-infantil de la infección por el virus de la inmunodeficiencia humana (VIH) en Cataluña y Baleares.

Two hundred and ninety three cases of children born of HIV positive mothers have been observed between January 1984 and June 1988 in Catalonia and Balearic Islands, with a ration of 9.5/10,000 newborns. Sex was not significant in the infected group. Most of the cases (68%) have been detected since 1987 and represent a significant increase in HIV positive children and thus of those who will present with clinical manifestations of this infection.