Calcificaciones cerebrales en el diagnóstico precoz del síndrome de DiGeorge sin cardiopatía / Brain calcifications in the early diagnosis of DiGeorge's syndrome without heart disease

Introducción: Las calcificaciones cerebrales son un hallazgo frecuente y no siempre tienen un significado patológico. El diagnóstico diferencial incluye diversas entidades en la población pediátrica, como tumores cerebrales, infecciones connatales y perinatales, síndromes neurocutáneos, enfermedades autoinmunes (p. ej., celiaquía) y, con mayor frecuencia, trastornos del metabolismo del calcio, entre los que se incluye el hipoparatiroidismo. Caso clínico: Varón de 12 años de edad que ingresa en la unidad de pediatría tras haber presentado 2 crisis tónico-clónicas generalizadas, sin relajación de esfínteres. Estuvo afebril en todo momento. Durante el ingreso presentó un estatus convulsivo con características similares a las crisis previas, acompañado de espasmos carpopedales. En las pruebas complementarias realizadas durante el ingreso destacaba la presencia de una calcemia de 5,3 mg/dL, un calcio iónico de 0,84 mmol/L y un fósforo de 6,9 mg/dL. El paciente se encontraba en fase de seguimiento debido a un retraso psicomotor, y 2 años antes, a raíz de otro episodio comicial, se habían detectado calcificaciones cerebrales bilaterales en la resonancia magnética realizada. Conclusiones: En el amplio abordaje de las calcificaciones cerebrales, es obligado realizar un estudio del metabolismo del calcio, aun en el caso de que éstas sean asintomáticas y se consideren un hallazgo casual

Introduction: Cerebral calcifications are a frequent finding and do not always have a pathological significance. The differential diagnosis in the pediatric population is large and includes entities such as brain tumors, connatal and perinatal infections, neurocutaneous syndromes, autoimmune diseases, such as celiac disease, and more frequently calcium metabolism disorders, including hypoparathyroidism. Case report: We present a 12-year-old male admitted to the pediatric unit after having presented two generalized tonic-clonic seizures without sphincter relaxation. No fever at all times. During admission, he presented convulsive status with characteristics similar to previous crises and accompanied by carpopedal spasms. In the complementary tests performed during admission, the presence of a 5.3 mg/dL calcemia, an ionic calcium of 0.84 mmO/L, and a phosphorus of 6.9 mg/dL was noteworthy. The patient was in follow-up due to psychomotor retardation and two years earlier, following another seizure episode, bilateral cerebral calcifications had been detected in magnetic resonance. Conclusions: In the large approach of cerebral calcifications, the study of calcium metabolism is mandatory, even if they are asymptomatic and are considered a casual finding

Bacteriemia por "Bordetella holmesii" en un paciente con drepanocitosis / Febrile syndrome caused by Bordetella holmesii and sickle cell disease

Introducción: Bordetella holmesii es un microorganismo que fue aislado por primera vez en un varón esplenectomizado en 1983. Existen pocos casos descritos en la literatura hasta ahora, pero todos comparten un factor de riesgo común: la inmunodepresión del paciente. Se presenta el caso de un niño diagnosticado de dicha infección en nuestro hospital. Caso clínico: Niño de 11 años de edad diagnosticado de drepanocitosis homocigota y asplenia funcional a los 8 años, que ingresa por un cuadro de mialgias de 24 horas de evolución, disuria y dolor lumbar, en tratamiento con amoxicilina-ácido clavulánico desde las 12 horas previas debido a la presencia de un síndrome febril sin foco. A su ingreso se inicia rehidratación y tratamiento antibiótico intravenoso. Se obtienen los resultados de las pruebas complementarias realizadas durante su ingreso, en los que destaca el aislamiento en el hemocultivo de un bacilo gramnegativo a las 72 horas, que no pudo ser identificado inicialmente pero fue catalogado como B. holmesii tras ser analizado por espectrómetro de masas en nuestro laboratorio de referencia. Tras su recuperación, destaca como dato analítico la presencia de una trombocitosis llamativa. Conclusión: Los gérmenes causantes de bacteriemias en los últimos años han cambiado y B. holmesii se presenta como un patógeno emergente que cabe tener en cuenta en los pacientes que presenten un síndrome febril e inmunosupresión como factor de riesgo

Introduction: Bordetella holmesii is a microorganism which was isolated in a splenectomized male in 1983 for the first time. Few cases have been described in the literature since then, but all of them share a common risk factor: the immunodepression of the patient. We introduce the case of a child diagnosed with the above mentioned infection in our hospital. Clinical case: 11-year-old child diagnosed of homozygous sickle cell disease and functional asplenia at 8 years of age, who was admitted to the hospital for muscle pain of 24 hours of evolution, dysuria and backache. He was being treated with amoxicilina-acid clavulanic for 12 hours because of a febrile syndrome without focus. When he was admitted to the hospital a rehydration and antibiotic intravenous treatment is initiated. Once the results of the complementary tests made during his admission become available, in which it stands out the isolation in the blood culture of a gram-negative bacilli after 72 hours, which could not be initially identified, but eventually was recognized as a B. holmesii after being analysed by mass spectrometry in our reference laboratory. After his recovery, the presence of a mild thrombocytosis is stressed as an analytical data. Conclusion: The microorganism which causes bacterieamia has changed in the last years and B. holmesii seems to be an emerging pathogenic which must be considered in patients who have a febrile syndrome and immunosuppression as a risk factor

Diabetes latente autoinmune en el joven. Una nueva aportación / Latent autoimmune diabetes in the young. A new case

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Neoplasias endocrinas múltiples: 2 casos de diagnóstico familiar y espontáneo / Multiple endocrine neoplasia: Familiar and spontaneous diagnosis

No disponible

Hipertransaminasemia como forma de inicio de un panhipopituitarismo adquirido / Hypertransaminasemia as the first manifestation of an acquired panhypopituitarism

Presentamos el caso de una niña diagnosticada de insuficiencia hipofisaria múltiple o panhipopituitarismo, cuyo cuadro clínico inicial (dolor abdominal con elevación de las transaminasas) no es muy habitual. En numerosas ocasiones, los tumores del área hipotálamo-hipofisaria se presentan sin ninguna sintomatología neurológica, y los síntomas clave para establecer su diagnóstico son un exceso o un déficit de hormonas hipofisarias. En este caso, lo que nos condujo al diagnóstico de una neoplasia hipotalámica-hipofisiaria fue el hallazgo de un eje tiroideo alterado en el contexto de un estudio realizado por hipertransaminasemia (AU)

We report a case of a 13 year old girl with multiple pituitary insufficiency or panhypopituitarism which clinical symptoms, abdominal pain and mild elevation of transaminase, are unusual. Frequently, hypothalamus-pituitary tumors have no neurological symptoms and clinical manifestations are related with de excess o deficit of pituitary hormones. A thyroid axis disorder found in the context of a mild elevation of transaminase, was the key for the diagnosis of an hypothalamus-pituitary tumor (AU)

Enfermedad de Chagas congénita. Tratamiento en el primer año de vida / Congenital Chagas. Treatment in the first year of life

Describimos el caso de una niña con enfermedad de Chagas congénita. Su diagnóstico se realizó a los 8 meses de edad por persistencia de la serología positiva, ya que no estaba disponible la reacción en cadena de la polimerasa (PCR) para esta enfermedad al nacimiento. Se trató a la paciente con benznidazol durante 60 días, sin que presentara reacciones adversas ni toxicidad. La serología disminuyó tras el tratamiento. Es importante detectar estos casos pediátricos lo antes posible. Para ello, debe realizarse un cribado de serología a Chagas en mujeres gestantes procedentes de áreas endémicas que emigran a Europa y, si es positiva, realizar una PCR y una serología en el niño (AU)

We present the case of a child affected by congenital Chagas disease. Her serology’s for the detection of Chagas persisted positive and she was diagnosed and treated at the age of 8 months. Chagas PCR was not available. She was treated with benznidazole for 60 days, without secondary effects or toxicity. After treatment her serologies decreased. It is important to detect these children as soon as possible. That is the reason why Chagas screening tests should be performed in pregnant women who come from endemic areas and emigrate to European countries and if it is positive, to do a PCR and serological tests to the child (AU)

[Update on new insulins]. / Nuevas insulinas. Actualización.

Standard human insulin preparations such as regular soluble insulin and neutral protamine Hagedorn (NPH) insulin have shortcomings in terms of their pharmacokinetic and pharmacodynamic properties that limit their clinical efficacy. In the last decade, due to advances in genetic engineering, structurally modified insulin molecules have been developed with the aim of changing their galenic properties to make regular soluble insulin faster and NPH insulin slower. Five insulin analog preparations have become commercially available: two long-acting analogs (insulin glargine and detemir) and three rapid or fast-acting analogs (insulin lispro, aspart and glulisine). This article highlights the specific properties of these new insulin analog preparations and focuses on their potential advantages and disadvantages when used in children with diabetes mellitus.

Nuevas insulinas. Actualización / Update on new insulins

Las insulinas tradicionales como la insulina regular y la insulina neutral protamine Hagedorn (NPH) presentan una eficacia limitada, debido fundamentalmente a su perfil farmacocinético y farmacodinámico. En la última década, gracias a los avances en ingeniería genética, se han realizado modificaciones en la molécula de insulina que han perseguido fundamentalmente alterar su formulación galénica, con el objetivo de hacer mucho más rápida a la insulina regular y mucho más lenta a la insulina NPH. Así, se han comercializado cinco nuevas insulinas conocidas como «análogos»: dos lentas (insulina glargina y detemir) y tres rápidas (insulina lispro, aspart y glulisina). En este artículo revisamos las propiedades de cada una de ellas, analizando las posibles ventajas y desventajas que puede ofrecernos su utilización en niños con diabetes tipo 1 (AU)

Standard human insulin preparations such as regular soluble insulin and neutral protamine Hagedorn (NPH) insulin have shortcomings in terms of their pharmacokinetic and pharmacodynamic properties that limit their clinical efficacy. In the last decade, due to advances in genetic engineering, structurally modified insulin molecules have been developed with the aim of changing their galenic properties to make regular soluble insulin faster and NPH insulin slower. Five insulin analog preparations have become commercially available: two long-acting analogs (insulin glargine and detemir) and three rapid or fast-acting analogs (insulin lispro, aspart and glulisine). This article highlights the specific properties of these new insulin analog preparations and focuses on their potential advantages and disadvantages when used in children with diabetes mellitus (AU)

Diabetes MODY. Una causa frecuente de hiperglucemia / Maturity onset diabetes of the young (MODY)

La hiperglucemia es un motivo cada vez más frecuente de consulta en pediatría. Su enfoque diagnóstico depende del contexto en el que se encuentre. Bajo la denominación de diabetes se incluyen numerosas entidades clínicas distintas. La diabetes tipo MODY (maturity onset diabetes of the young) es, tras la diabetes tipo 1, el tipo de diabetes más frecuente en la infancia. Para su diagnóstico es necesario un alto índice de sospecha, y es fundamental tener en cuenta la historia familiar (AU)

Hyperglycemia is an increasing cause of consultation in Paediatrics. Diagnosis depends on the context. Under the name of diabetes numerous clinical entities are included. MODY (maturity onset diabetes of the young) is, after type 1 diabetes, the most frequent cause of diabetes in childhood. For its diagnosis, a high degree of suspicion is needed and we have to be aware of the family history (AU)

[Use of statins in children]. / Uso de estatinas durante la infancia.

In the last decade treatment of hyperlipidemia has changed substantially due to the use of statins, a group of drugs that inhibit the enzyme hydroxymethylglutaryl coenzyme-A-reductase (HMG-CoA reductase). Its use has been proven to be efficient and safe in adults, and could also be of benefit in the treatment of hypercholesterolemia in children. Up to date, six of these drugs have been used in children: lovastatin, fluvastatin, pravastatin, simvastatin, atorvastatin and more recently, rosuvastatin. In some of these studies the follow-up has been up to three years and, as regards their use during childhood, we can conclude that they are safe as well as efficient in reducing the blood levels of total cholesterol (TC) and low-density lipoproteins cholesterol (LDL-C).

Uso de estatinas durante la infancia / Use of statins in children

En la última década el tratamiento de las hiperlipidemias se ha modificado sustancialmente debido a la introducción de las estatinas, fármacos inhibidores de la enzima hidroximetilglutaril-coenzima A (HMG-CoA) reductasa. Su uso ha sido demostrado como eficaz y seguro en adultos, por lo que podría ser también beneficioso para el tratamiento de las hipercolesterolemias durante la infancia. Hasta el momento, seis han sido utilizadas en población infantil: lovastatina, fluvastatina, pravastatina, simvastatina, atorvastatina y más recientemente rosuvastatina. En algunos de estos estudios el seguimiento ha sido de 3 años y, sobre su uso en la infancia, puede concluirse que a la vez de seguras, son muy eficaces para reducir las concentraciones tanto de colesterol total (CT) como de colesterol de las lipoproteínas de baja densidad (c-LDL) en sangre (AU)

In the last decade treatment of hyperlipidemia has changed substantially due to the use of statins, a group of drugs that inhibit the enzyme hydroxymethylglutaryl coenzyme-A-reductase (HMG-CoA reductase). Its use has been proven to be efficient and safe in adults, and could also be of benefit in the treatment of hypercholesterolemia in children. Up to date, six of these drugs have been used in children: lovastatin, fluvastatin, pravastatin, simvastatin, atorvastatin and more recently, rosuvastatin. In some of these studies the follow-up has been up to three years and, as regards their use during childhood, we can conclude that they are safe as well as efficient in reducing the blood levels of total cholesterol (TC) and low-density lipoproteins cholesterol (LDL-C) (AU)

[Maturity onset diabetes of the young (MODY)]. / Diabetes MODY. Una causa frecuente de hiperglucemia.

Hyperglycemia is an increasing cause of consultation in Paediatrics. Diagnosis depends on the context. Under the name of diabetes numerous clinical entities are included. MODY (maturity onset diabetes of the young) is, after type 1 diabetes, the most frequent cause of diabetes in childhood. For its diagnosis, a high degree of suspicion is needed and we have to be aware of the family history.

[Prevalence of metabolic syndrome and its components in obese children and adolescents]. / Prevalencia del síndrome metabólico y sus componentes en niños y adolescentes con obesidad.

OBJECTIVE: The aim of our study was to assess the prevalence of metabolic syndrome and other metabolic features in obese children. METHODS: We studied 97 obese children and adolescents (body mass index > or = 95th percentile) aged between 6 and 14 years old. All children underwent an oral glucose tolerance test. The diagnoses of fasting impaired glucose, impaired glucose tolerance and type 2 diabetes were defined according de American Diabetes Association criteria. Diagnosis of metabolic syndrome was defined according de National Cholesterol Education Program-Adult Treatment Panel (NCEP-ATP III) criteria adapted for children. RESULTS: Metabolic syndrome was found in 18.6 % of the children, with a higher rate among puberal children (26.2 %) than among prepuberal children (12.7 %). There were no significant differences by sex. The prevalence of each of the components was 10.3 % for abnormal glucose homeostasis (8.2 % in impaired fasting glucose, 5.4 % in impaired glucose tolerance, 1.1 % in type 2 diabetes), 97.9 % for abdominal obesity, 16.5 % for high triglyceride level, 15.5 % for low levels of high-density lipoprotein cholesterol, and 45.4 % for high blood pressure (40.2 % for systolic pressure and 22.7 % for diastolic pressure). Insulin resistance (HOMA-R > or = 3.8) was found in 45.4 % of the children, with a higher rate among children with metabolic syndrome (77.8 %). CONCLUSIONS: Nearly 20 % of the obese children studied met the criteria for metabolic syndrome, a constellation of metabolic derangements associated with obesity. Insulin resistance was very common among children with obesity and metabolic syndrome.

Prevalencia del síndrome metabólico y sus componentes en niños y adolescentes con obesidad / Prevalence of metabolic syndrome and its components in obese children and adolescents

Objetivo El propósito principal de este estudio fue establecer la prevalencia del síndrome metabólico (SM) y sus componentes en niños con obesidad. Métodos Se estudiaron 97 niños y adolescentes con obesidad (IMC ≥ P95) entre 6-14 años de edad. Cada sujeto fue sometido a una sobrecarga oral con glucosa. Para el diagnóstico de intolerancia a la glucosa, alteración de la glucemia en ayunas y diabetes mellitus se siguieron las recomendaciones de la Asociación Americana de Diabetes (ADA). La definición de SM fue adaptada de la recomendada por el National Cholesterol Education Program-Adult Treatment Panel III (NCEP-ATP III). Resultados El SM se encontró en el 18,6 % de los sujetos con una frecuencia mayor en sujetos puberales (26,2 %) que en prepuberales (12,7 %). No hubo diferencias entre sexos. La prevalencia de cada uno de los componentes del mismo fue del 10,3 % para la alteración del metabolismo de la glucosa (8,2 % para la alteración de la glucemia en ayunas; 5,4 % para la intolerancia a la glucosa, y 1,1 % para la diabetes tipo 2); 97,9 % para la obesidad central; 16,5 % para la hipertrigliceridemia; 15,5 % para el colesterol de lipoproteínas de alta densidad (HDL-c) bajo y 45,4 % para la hipertensión arterial (40,2 % para la sistólica y 22,7 % para la diastólica). El 45,4 % de los sujetos estudiados presentó insulinorresistencia (HOMA-R ≥ 3,8), que se elevó hasta el 77,8 % en sujetos con SM. Conclusiones Casi el 20 % de los niños estudiados cumplía criterios de síndrome metabólico, una constelación de anomalías metabólicas relacionadas con la obesidad. La insulinorresistencia fue muy frecuente en niños con obesidad y SM

Objetive The aim of our study was to assess the prevalence of metabolic syndrome and other metabolic features in obese children. Methods We studied 97 obese children and adolescents (body mass index ≥ 95th percentile) aged between 6 and 14 years old. All children underwent an oral glucose tolerance test. The diagnoses of fasting impaired glucose, impaired glucose tolerance and type 2 diabetes were defined according de American Diabetes Association criteria. Diagnosis of metabolic syndrome was defined according de National Cholesterol Education Program-Adult Treatment Panel (NCEP-ATP III) criteria adapted for children. Results Metabolic syndrome was found in 18.6 % of the children, with a higher rate among puberal children (26.2 %) than among prepuberal children (12.7 %). There were no significant differences by sex. The prevalence of each of the components was 10.3 % for abnormal glucose homeostasis (8.2 % in impaired fasting glucose, 5.4 % in impaired glucose tolerance, 1.1 % in type 2 diabetes), 97.9 % for abdominal obesity, 16.5 % for high triglyceride level, 15.5 % for low levels of high-density lipoprotein cholesterol, and 45.4 % for high blood pressure (40.2 % for systolic pressure and 22.7 % for diastolic pressure). Insulin resistance (HOMA-R ≥ 3.8) was found in 45.4 % of the children, with a higher rate among children with metabolic syndrome (77.8 %). Conclusions Nearly 20 % of the obese children studied met the criteria for metabolic syndrome, a constellation of metabolic derangements associated with obesity. Insulin resistance was very common among children with obesity and metabolic syndrome

[Male pseudohermaphroditism]. / Seudohermafroditismo masculino.

Diagnosis of ambiguous genitalia in a newborn is an emergency that can be difficult to manage, not only because salt wasting entities must be ruled out, but also due to the importance of gender assignment before psychological gender is established. We report two cases of male pseudohermaphroditism, a true hermaphroditism and a 5-alfa-reductase deficiency. The physiology of sexual differentiation and diagnosis, as well as the management of these infants, are discussed.

Seudohermafroditismo masculino / Male pseudohermaphroditism

El abordaje de un recién nacido (RN) con genitales ambiguos es una urgencia de difícil manejo, no sólo urge el diagnóstico de entidades que podrían implicar una pérdida salina, sino también la asignación del sexo al RN antes de que éste fije su sexo psicológico. Presentamos 2 casos de seudohermafroditismo masculino, uno de ellos del tipo hermafroditismo verdadero y el otro secundario a un déficit de 5alfa-reductasa. Se analiza la fisiología de la diferenciación sexual, las entidades diagnósticas y el protocolo que hay que seguir

Diagnosis of ambiguous genitalia in a newborn is an emergency that can be difficult to manage, not only because salt wasting entities must be ruled out, but also due to the importance of gender assignment before psychological gender is established. We report two cases of male pseudohermaphroditism, a true hermaphroditism and a 5-alfa-reductase deficiency. The physiology of sexual differentiation and diagnosis, as well as the management of these infants, are discussed

[Metabolic syndrome in childhood]. / Síndrome metabólico en la infancia.

The World Health Organization has described obesity as the world epidemic of the twentieth century, ranking as the main problem in public health. In Spain, the enKid study, undertaken in a population aged between 2 and 24 years, shows prevalences of 13.9 % for obesity and 12.4 % for overweight. Longitudinal studies suggest that childhood obesity after the age of 3 years correlates with a greater risk of obesity in adulthood, with an increase in morbility and mortality due to the persistence of associated metabolic disorders. Among these disorders is the metabolic syndrome, defined as the association of several risk factors that herald arteriosclerotic cardiovascular disease and type 2 diabetes in adulthood, with insulin resistance playing a major role in its pathophysiology. Despite its importance, there is still no universally accepted pediatric definition of this syndrome, hampering exact knowledge of its scope, although the prevalence observed in numerous studies performed in obese pediatric patients ranges from 20-30 %.

Síndrome metabólico en la infancia / Metabolic syndrome in childhood

La Organización Mundial de la Salud (OMS) ha calificado a la obesidad de epidemia mundial del siglo xx, convirtiéndose en el primer problema de salud pública. En España, el estudio enKid realizado en la población entre los 2 y 24 años de edad, muestra unas cifras de prevalencia del 13,9 % para la obesidad y del 12,4 % para el sobrepeso. Estudios longitudinales sugieren que la obesidad infantil después de los 3 años de edad se asocia a un mayor riesgo de obesidad en la edad adulta, con un aumento de la morbilidad y mortalidad debido a la persistencia de los trastornos metabólicos asociados, entre los que se encuentran el síndrome metabólico, definido como la asociación de varios factores de riesgo precursores de enfermedad cardiovascular arterioesclerótica y de diabetes tipo 2 en el adulto y en cuya fisiopatología desempeña un papel fundamental la insulinorresistencia. A pesar de su trascendencia, no existe aún una definición pediátrica del mismo universalmente aceptada, lo que dificulta el conocimiento exacto de su magnitud, si bien la prevalencia hallada en numerosos estudios realizados en pacientes pediátricos obesos oscila entre el 20-30

The World Health Organization has described obesity as the world epidemic of the twentieth century, ranking as the main problem in public health. In Spain, the enKid study, undertaken in a population aged between 2 and 24 years, shows prevalences of 13.9 % for obesity and 12.4 % for overweight. Longitudinal studies suggest that childhood obesity after the age of 3 years correlates with a greater risk of obesity in adulthood, with an increase in morbility and mortality due to the persistence of associated metabolic disorders. Among these disorders is the metabolic syndrome, defined as the association of several risk factors that herald arteriosclerotic cardiovascular disease and type 2 diabetes in adulthood, with insulin resistance playing a major role in its pathophysiology. Despite its importance, there is still no universally accepted pediatric definition of this syndrome, hampering exact knowledge of its scope, although the prevalence observed in numerous studies performed in obese pediatric patients ranges from 20-30 %