[Recommendations of the Spanish Paediatric Endocrinology Society Working Group on Obesity on eating habits for the prevention of obesity and cardiovascular risk factors in childhood]. / Recomendaciones del Grupo de Trabajo de Obesidad de la Sociedad Española de Endocrinología Pediátrica sobre hábitos de alimentación para la prevención de la obesidad y los factores de riesgo cardiovascular en la infancia.

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.

[Vegetarian diet in glutaric aciduria type I]. / Dieta vegetariana en aciduria glutárica tipo I.

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.

[Necrotizing histiocytic lymphadenitis (Kikuchi-Fujimoto disease) in a 7-year-old girl]. / Linfadenitis histiocitaria necrotizante (enfermedad de Kikuchi-Fujimoto) en niña de 7 años.

Kikuchi-Fujimoto's disease is a rare self-limited condition of young adults that usually involves the cervical lymph nodes and is associated with fever, rash and some haematological alterations. Diagnosis is based on characteristic pathologic findings that permit differentiation of this disease from lymphoma, systemic lupus erythematous and infectious lymphadenopathies. We describe a case of 7 year-old female presenting with cervical localization of Kikuchi-Fujimoto's disease. To our knowledge, this case results the earliest affection of this disease. Our proposal with this article is to remind the pediatricians and pediatric surgeons of this poorly recognized entity when children ask for cervical masses and fever.

[Central venous access by the Seldinger technic in neonatology]. / Accesos venosos centrales por técnica de Seldinger en neonatología.

Eighteen catheterizations were attempted in 17 patients catheters (Arrow 3ChFr and 4ChFr), between january of 1996 and december of 1997. The patients ranged in age from 3 to 148 days (mean of 43.3 and standard deviation of 47.5) and in weight from 1110 to 4000 grams (mean of 3182 grams and standard deviation 767.2 grams). Overall successful catheterization rate was 94.5%. Complications included a pneumothorax that needed pleural drainage, one self-limited femoral artery spasm and one stenosis of femoral vein that did not require any treatment. The mean catheterism time was 6.64 days (deviation of 3.84 days), and the causes of removal were end of treatment in 8 patients, accidental removal in 5, infectious suspicion in 2 and limb edema in 2. Seldinger technique may be a useful approach for central venous catheterization in neonates. Careful catheterization, extensive experience and appropriate selection of material, help to keep the risk of complications low.

[Prevalence of obesity and cardiovascular risk factors in a group of paediatric patients with type 1 diabetes]. / Prevalencia de obesidad y de factores de riesgo cardiovascular en una población de pacientes pediátricos con diabetes tipo 1.

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.

[Congenital mydriasis as an initial sign of septo-optic dysplasia]. / Midriasis congénita como signo inicial de displasia septo-óptica.

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.

[Phenotype heterogeneity in Gitelman's syndrome]. / Variabilidad fenotípica del síndrome de Gitelman.

A family with three offspring affected of Giltelman's syndrome is reported. The phenotypic variability of this entity is emphasized. Moreover, the diagnosis criteria of the syndrome, phathophysiology, and genetics and clinical differences with Bartter's syndrome are stated.

A fatal case of congenital disseminated Langerhans cell histiocytosis.

The case of a newborn male infant with congenital Langerhans cell histiocytosis (LCH) is presented. At birth, showed cutaneous lesions (papules and vesicles with a haemorrhagic aspect), mucosal and ganglionic involvement. Biopsy of these lesions led to the diagnosis of LCH. At 24 hours of life the patient began with respiratory, hepatic, hematological and renal dysfunction, and died at 72 hours of life, despite corticoid treatment. LHC with vesicles and a rapid and fatal development, has previously only been described in three patients. The differential diagnosis of a disseminated and hemorrhagic vesicular eruption in a newborn infant is extensive and must include LHC.

[Megacalycosis diagnosed during the study of antenatal hydronephrosis]. / Megacaliosis diagnosticada en el estudio de una hidronefrosis prenatal.

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.

[Neonatal convulsions caused by incontinentia pigmenti with left opercular dysgenesia]. / Convulsiones neonatales por incontinencia pigmenti con disgenesia opercular izquierda.

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.