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La obesidad infantil determina un riesgo elevado de enfermedad cardiovascular. Este artículo realiza una actualización sobre el papel que los factores dietéticos tienen sobre el desarrollo y la prevención de la obesidad en este grupo de edad. Según la evidencia científica, las recomendaciones recogidas son: promover el consumo de hidratos de carbono de absorción lenta y disminuir aquellos con índice glucémico alto, evitar el consumo de bebidas azucaradas, limitar el consumo de grasas a un 30% de las calorías totales diarias y el de grasas saturadas a un 7-10%, reducir la ingesta de colesterol, evitar durante el primer año las fórmulas con alto contenido proteico, aumentar la ingesta de fibra, reducir el aporte de sodio y realizar al menos 4 comidas al día evitando el consumo regular de comida rápida y de snacks

Childhood obesity is associated with a high risk of cardiovascular disease and early mortality. This paper summarises the currently available evidence on the implications of dietary factors on the development and prevention of obesity in paediatric patients. Evidence-based recommendations are: promote the consumption of slowly absorbed carbohydrates and reduce those with a high-glycaemic-index, avoid intake of sugar-sweetened beverages. Fat may provide up to 30-35% of the daily energy intake and saturated fat should provide no more than 10% of daily energy intake; reduce cholesterol intake, avoid formula milk with a high protein content during the first year; promote higher fibre content in the diet, reduce sodium intake, and have at least four meals a day, avoiding regular consumption of fast food and snacks

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Childhood obesity is associated with a high risk of cardiovascular disease and early mortality. This paper summarises the currently available evidence on the implications of dietary factors on the development and prevention of obesity in paediatric patients. Evidence-based recommendations are: promote the consumption of slowly absorbed carbohydrates and reduce those with a high-glycaemic-index, avoid intake of sugar-sweetened beverages. Fat may provide up to 30-35% of the daily energy intake and saturated fat should provide no more than 10% of daily energy intake; reduce cholesterol intake, avoid formula milk with a high protein content during the first year; promote higher fibre content in the diet, reduce sodium intake, and have at least four meals a day, avoiding regular consumption of fast food and snacks.

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La displasia septo-óptica (DSO)[MIM182230] es una entidad heterogénea poco frecuente, caracterizada por la tríada clásica: hipoplasia del nervio óptico, anomalías de las hormonas hipofisarias y defectos de la línea media cerebral (incluyendo agenesia del septumpellucidumy/o del cuerpo calloso; también se han descrito malformaciones corticales asociadas, citado como síndrome DSO plus). Referimos el primer caso clínico conocido, en el que el signo de diagnóstico inicial de DSO fue una midriasis bilateral, como manifestación de hipoplasia de ambos nervios ópticos, hipoplasia hipofisaria y disgenesia cerebral con alteración de migración neuronal. Discutimos el diagnóstico diferencial de la midriasis congénita (AU)

Septo-optic dysplasia (SOD)[MIM182230] consisting of a heterogeneous and uncommon condition characterised by the classic triad: optic nerve hypoplasia, abnormalities of pituitary hormone, and defects of the brain midline (including agenesis of the septum pellucidum and/or the corpus callosum; it has also been described associated cortical malformations, it was referred to as SOD plus syndrome).We report the first known case in which the initial diagnostic sign of SOD was a bilateral mydriasis as a manifestation of hypoplasia of both optic nerves, pituitary hypoplasia andcerebral dysgenesis with neuronal migration disorder. We discuss the differential diagnosis of congenital mydriasis (AU)

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Septo-optic dysplasia (SOD)[MIM182230] consisting of a heterogeneous and uncommon condition characterised by the classictriad: optic nerve hypoplasia, abnormalities of pituitary hormone, and defects of thebrain midline (including agenesis of the septum pellucidum and/or the corpus callosum; ithas also been described associated cortical malformations, it was referred to as SOD plus syndrome).We report the first known case in which the initial diagnostic sign of SOD was a bilateralmydriasis as a manifestation ofhypoplasia of both optic nerves, pituitary hypoplasia andcerebral dysgenesis with neuronal migration disorder.We discuss thedifferential diagnosis of congenital mydriasis.

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Objetivo: Se pretende establecer la prevalencia de sobrepeso-obesidad y síndrome metabólico en un grupo de pacientes pediátricos con diabetes tipo 1 (DM1) y determinar las repercusiones en el perfil lipoproteico y el control metabólico. Métodos: Se recoge a 115 pacientes (5-16 años) con DM1 e insulinoterapia intensiva. Se miden el peso, la talla, el índice de masa corporal (IMC), el perímetro abdominal (PA), la tensión arterial (TA), la hemoglobina glucosilada (HbA1c), el colesterol total (CT), el colesterol HDL (cHDL), el colesterol LDL (cLDL) y los triglicéridos (TG). Los resultados se estratifican por sexo y edad (< 11 años y ≥ 11 años). Resultados: Se obtiene una prevalencia de sobrepeso y obesidad (según valores de referencia de Hernández) del 28,69 y el 18,26%, respectivamente, con predominio femenino en ambos casos. La prevalencia de síndrome metabólico (según criterios de la Internacional Diabetes Federation) es del 3,22%. El 3,47% muesta PA > del percentil 90 para edad y sexo y el 2,6% TA sistólica ≥ 130mmHg y/o TA diastólica ≥ 85mmHg. El 4,34% muestra cHDL < 40mg/dl y el 2,6% TG ≥ 150mg/dl. Los pacientes con obesidad presentan niveles significativamente más bajos de cHDL y significativamente más altos de cLDL. No existen diferencias significativas en la HbA1c entre los pacientes con sobrepeso-obesidad y el resto. Conclusiones: Aunque el sobrepeso y la obesidad son frecuentes en los pacientes pediátricos con DM1, la prevalencia de síndrome metabólico y de factores de riesgo cardiovascular es más baja que en pacientes adultos. No obstante, el grupo de niños diabéticos con obesidad muestra un perfil lipoproteico de riesgo cardiovascular (AU)

Objective: To establish the prevalence of overweight-obesity and metabolic syndrome in a group of paediatric patients with type 1 diabetes (DM1), and to determine the effects on the lipoprotein profile and metabolic control. Methods: A group of 115 patients (5-16 years) with DM1, and on intensive insulin therapy was studied. Weight, height, body mass index (BMI), waist circumference (WC), blood pressure(BP), glycosylated haemoglobin (HbA1c), total cholesterol (TC), HDL-cholesterol (HDL-c), LDL cholesterol (LDL-c) and triglycerides (TG) were measured. The results were stratified by sexand age (< 11 years and≥11 years).Results: The prevalence of overweight and obesity (according to Hernández’s reference values) was 28.69% and 18.26%, respectively, with female predominance in both cases. The prevalence of metabolic syndrome (according to the International Diabetes Federation criteria) was 3.22%. 3.47% The WC adjusted for age and sex was > 90th percentile in 3.47% of cases, and 2.6% had a systolic BP≥130 mmHg and/or a diastolic BP≥85 mmHg. An HDL-c < 40 mg/dl was seen in 4.34%, and 2.6% had TG≥150 mg/dl. Obese patients had lower HDL-c levels and higher LDL-c levels than non-obese subjects. There were no significant differences in HbA1c between patients with overweight-obesity and the rest. Conclusions: Overweight and obesity are common in paediatric patients with DM1. Nevertheless, the prevalence of metabolic syndrome and cardiovascular risk factors is lower than in adult patients. The group of diabetic children with obesity had a lipoprotein profile of cardiovascular risk (AU)

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OBJECTIVE: To establish the prevalence of overweight-obesity and metabolic syndrome in a group of paediatric patients with type 1 diabetes (DM1), and to determine the effects on the lipoprotein profile and metabolic control. METHODS: A group of 115 patients (5-16 years) with DM1, and on intensive insulin therapy was studied. Weight, height, body mass index (BMI), waist circumference (WC), blood pressure (BP), glycosylated haemoglobin (HbA1c), total cholesterol (TC), HDL-cholesterol (HDL-c), LDL-cholesterol (LDL-c) and triglycerides (TG) were measured. The results were stratified by sex and age (< 11 years and ≥ 11 years). RESULTS: The prevalence of overweight and obesity (according to Hernández's reference values) was 28.69% and 18.26%, respectively, with female predominance in both cases. The prevalence of metabolic syndrome (according to the International Diabetes Federation criteria) was 3.22%. 3.47% The WC adjusted for age and sex was > 90th percentile in 3.47% of cases, and 2.6% had a systolic BP ≥ 130 mmHg and/or a diastolic BP ≥ 85 mmHg. An HDL-c < 40 mg/dl was seen in 4.34%, and 2.6% had TG ≥ 150 mg/dl. Obese patients had lower HDL-c levels and higher LDL-c levels than non-obese subjects. There were no significant differences in HbA1c between patients with overweight-obesity and the rest. CONCLUSIONS: Overweight and obesity are common in paediatric patients with DM1. Nevertheless, the prevalence of metabolic syndrome and cardiovascular risk factors is lower than in adult patients. The group of diabetic children with obesity had a lipoprotein profile of cardiovascular risk.

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Las fístulas del seno piriforme son malformaciones poco frecuentes que causan abscesos cervicales recurrentes y tiroiditis agudas supurativas, cuya incidencia general es muy baja por la resistencia de la glándula tiroidea a la infección. El objetivo de este trabajo es describir la presentación clínica, diagnóstico, tratamiento y evolución de cuatro casos de fístulas del seno piriforme en niños tratadas en nuestro hospital en los últimos 15 años. Todos debutaron con tumoración inflamatoria laterocervical izquierda, con signos ecográficos de tiroiditis aguda supurativa en dos casos y con masas heterogéneas cercanas al its motiroideo en el resto. Las fístulas consiguieron ponerse de manifiesto conesofagogramas y/o fibrolaringoscopias. El tratamiento consistió en antibioticoterapia de amplio espectro y drenaje quirúrgico en la fase aguda, con posterior fistulectomía, asociando hemitiroidectomía izquierda en dos casos. Todos los pacientes permanecieron asintomáticos tras eltratamiento, a excepción de una niña con recidiva siete años después.Para realizar un adecuado diagnóstico se precisa un alto índice de sospecha. Hay que conseguir delimitar la fístula, siendo la mejor opción terapéutica la exéresis completa de la misma por un abordaje cervical hasta desconectarla de su origen en hipofaringe. Para evitar recidivas se recomienda la resección de la porción de la glándula tiroidea implicada (AU)

Pyriform sinus fistula is a rare malformation causing recurrent cervical abscesses and acute suppurative thyroiditis, with a low incidence in general, as the thyroid gland is remarkably resistant to infections. The aim of this paper is to describe the clinical data, diagnosis, treatment and evolution of four cases of pyriform sinus fistulas treated at our institution over the last 15-year period. All appeared at the beginning with left laterocervical inflammatory tumours, with radiological signs of acute suppurative thyroiditis in one case and with heterogeneous masses near the isthmus of the thyroid gland in the rest of them. The fistulous tracts were delineated by barium studies and/or fibro-laryngoscopy. The treatment of the acute phase consisted of broad-spectrum antibiotic therapy with an initial incision and drainage procedures. At the end, a subsequent fistulectomy was made. A left hemithyroidectomy was accomplished at two cases. All the patients remained asymptomatic after the treatment except one girl that suffered recurrence seven years later. For a suitable diagnosis a high index of suspicion are necessary. The best therapeutic option is a good delineation and complete excision of the fistulous tract by cervical approach until disconnecting it of its origin at the hypopharynx. In order to avoid recurrences, the resection of the portion of the involved thyroid gland is recommended (AU)

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Glutaric aciduria type I is an autosomal recessive metabolic disease (1 case/30,000) characterized by a progressive dystonic-diakinetic syndrome in children. Pathologic examination reveals striatal degeneration of the caudate and putamen nucleus and biochemical analysis shows glutaryl CoA dehydrogenase deficiency. Values of glutaric and -hydroxyglutaric acids in urine are usually increased. Currently, the disease is considered untreatable since there are usually irreversible lesions in the central nervous system at diagnosis. However, treatment can be provided to pre-symptomatic children and usually to the siblings of patients with this diagnosis. We present the case of a 23-month-old boy, with macrocephaly and minimal neurologic manifestations at diagnosis, which were attributed to his semivegetarian diet. A dietary regimen and vitamin supplementation halted and even improved symptomatic progression of the disease. We conclude that amino and organic acids in urine should be investigated in all children with progressive macrocephaly of unknown etiology to rule out glutaric aciduria type I.

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La aciduria glutárica tipo I es una enfermedad neurometabólica, de herencia autosómico recesiva (1 caso/ 30.000), caracterizada por discinesia y distonía progresiva en niños, patológicamente por degeneración estriatal, en particular de los núcleos caudado y putamen, y bioquímicamente por deficiencia en tejidos de glutaril-CoA deshidrogenasa, con cifras usualmente elevadas de ácidos glutárico y betahidroxiglutárico en orina. Actualmente no se considera una enfermedad tratable, puesto que al diagnóstico del paciente suele haber lesiones irreversibles en sistema nervioso central, beneficiándose del tratamiento los niños presintomáticos y, en general, los hermanos de otros pacientes ya diagnosticados. Se presenta un niño de 23 meses con macrocefalia y mínimas manifestaciones neurológicas al diagnóstico, atribuidas a que el niño seguía una dieta semivegetariana. El establecimiento dietético y suplementos vitamínicos ha detenido e incluso mejorado la progresión sintomática de la enfermedad. Se concluye que a todo niño con macrocefalia progresiva de etiología no filiada se le debe realizar estudio de aminoácidos y ácidos orgánicos en orina para descartar aciduria glutárica tipo I (AU)

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AIMS: In this paper we review the main publications on incontinentia pigmenti (IP) and the current knowledge of the etiopathogenesis of the disease and of the convulsions in the neonatal period, by considering a clear case of neonatal IP, with skin, eye, brain and bone lesions. CASE REPORT: Our patient, a female, started with clonic seizures in the right half of the body at the age of three days. Method. IP, or Bloch Sulzberger syndrome, is a genetic multisystemic neuroectodermic disorder. It is a disease of low incidence (1% of all neuroectodermic disorders) which is transmitted by means of a pattern of dominant inheritance linked to X, and is lethal in males, except in rare cases of somatic mosaicism and Klinefelter. In the family forms the gene is located in the p11 (IP 1) and q28 (IP 2) regions of the X chromosome. It has recently been discovered that the cause lies in a mutation of a gene called NEMO (IKK gamma). Together with Bourneville s tuberous sclerosis it is the only neurocutaneous syndrome that can begin with neonatal convulsions. The convulsions start on the second or third day of life and are often limited to a single side of the body, although it can also appear as encephalitis. The origin of the convulsions has been linked with recurring encephalomyelitis, or with an alteration of the neuronal migration. CONCLUSIONS: The cause of the early convulsions in our patient, which we put down to a left perisylvian focal dysgenesia (unilateral opercular syndrome) observed in the computerised axial tomography (CAT scan), has not been reported up to the present associated with IP.

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La artritis fúngica en pacientes pediátricos es rara y en la mayor parte de las ocasiones es secundaria a una diseminación hematógena concomitante o producida poco tiempo antes. Presentamos un caso de artritis de rodilla por Candida albicans en una lactante sana de tres meses de edad diagnosticada dos meses después de una candidiasis hematógena, en principio, correctamente tratada con anfotericina B. Se revisan los tratamientos de la candidiasis hematógena y de la artritis por Candida (AU)

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Los hemangiomas del tracto gastrointestinal son una causa rara pero importante de hemorragia digestiva, que se manifiesta bien por sangrado activo o bien por anemia ferropénica resistente al tratamiento. Su diagnóstico resulta con frecuencia difícil y la presencia de hemangiomas en otras localizaciones, habitualmente en la piel, hace sospechar su existencia. Presentamos el caso de una niña con anemia persistente secundaria a un hemangioma solitario en intestino delgado (AU)

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We describe a case of megacalycosis in a newborn female with a probable antenatal ultrasonographic diagnosis of left multicystic dysplastic kidney. Uroradiology, ultrasonography and nuclear medicine studies were performed and diagnosis was established by excretory urogram. We have found only one previously published case of megacalycosis in which diagnosis was made during the postnatal study of antenatal hydronephrosis. Megacalycosis should be included in the differential diagnosis of prenatal hydronephrosis.

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Se describe un caso de megacaliosis en una recién nacida con diagnóstico prenatal de probable riñón multiquístico displásico izquierdo. Se practicaron estudios urorradiológicos, ecografía renal y renograma diurético, siendo la urografía excretora la exploración diagnóstica. En la revisión bibliográfica realizada tan sólo se ha encontrado un caso documentado de megacaliosis diagnosticada en el estudio posnatal de una hidronefrosis demostrada ecográficamente en período prenatal. La megacaliosis debe figurar en el diagnóstico diferencial de la hidronefrosis prenatal (AU)

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