[Scrotal hair in infants]. / Vello escrotal en lactantes.

The presence of pubic hair is exceptional in healthy infants of both sexes. In most of the cases described in the literature, the process was self-limited and no etiology was found. Nevertheless, in some patients, this finding has been associated with other manifestations of hyperandrogenism related to potentially serious diseases such as congenital adrenal hyperplasia or virilizing tumors. In the present article, we describe seven infants followed-up in the Pediatric Endocrine Clinic because of scrotal hair. In all patients, the process was self-limited and resolved spontaneously and no hormonal or developmental alterations were observed. Key words: Scrotal hair, infants, virilization.

[Tracheal agenesis associated with laryngeal malformations as an unusual cause of airway failure]. / Agenesia traqueal asociada a malformaciones laríngeas como causa inusual de fracaso de la vía aérea.

Tracheal agenesis is an uncommon congenital malformation with an extremely high mortality rate. This malformation manifests after delivery as severe respiratory distress, cyanosis, lack of crying and impossibility of endotracheal respiratory support. This anomaly is usually associated with cardiovascular, respiratory and gastrointestinal malformations. Only a high index of suspicion and early surgical management will prevent death. An early diagnosis may also help the parents and the medical team to take appropriate decisions. Currently, there is no effective therapy that guarantees long-term survival.

[Group therapy for the treatment of obesity in children and adolescents]. / Terapia de grupo para el tratamiento de la obesidad infantil.

THERAPY: Although obesity is one of the leading health problems in developed countries, effective treatment is lacking. The aim of the present study was to determine whether group therapy is more efficient in inducing weigh loss than individual therapy in the pediatric age group. EXPERIMENTAL DESIGN: Fifty obese patients, 15 preadolescents and 33 adolescents (12 boys and 23 girls) were studied. In all patients, dietary intake was modified to reduce calorie intake. Initially all patients were followed-up individually every 3 months (individual therapy) until the beginning of group therapy when the patients were seen monthly in groups of 10-15 patients with their parents (preadolescents) or alone (adolescents). In the group sessions, talks were given about diet and exercise. In each session, the patient who had shown the greatest improvement in habits and weight loss received a prize. The patients were followed-up for 2 years, with individual therapy in the first year and group therapy in the second. Differences in body mass index (BMI) z-score before the beginning of therapy and during therapy were analyzed using Student's paired T test. RESULTS: With individual therapy, no changes in BMI z-score were observed throughout the study. In contrast, with group therapy, BMI z-score decreased in all the groups studied. During the 1-year follow-up with individual therapy, 60 % of the patients gained more than 5 kg. With group therapy, only 10 % of patients gained more than 5 kg. CONCLUSIONS: In obese children and adolescents, group therapy was more efficient than individual therapy in inducing weight loss.

[The cannabinoid system and its importance in the perinatal period]. / El sistema cannabinoide y su importancia en el período perinatal.

The cannabinoid system has been recently described, including the endogenous ligands, mainly arachidonic acid derivatives, and their specific receptors. Endocannabinoids are involved in the modulation of synaptic transmission, through which they exert their psychoactive, motor and antinociceptive effects, among others; they also exert extraneural effects, mainly immunomodulation and vasodilation. Recent data suggest that the cannabinoid system might play an important role in human ontogeny and could participate in the implantation and early development of the embryo, in fetal brain development, and in the beginning of breast feeding after birth. In addition, the vasodilatory effect of cannabinoids, together with inhibition of the release of excitotoxic amino acids and cytokines, as well as modulation of oxidative stress and the toxic production of nitric oxide, justify the growing evidence pointing to a possible neuroprotective effect of cannabinoids in perinatal asphyxia.

[The clinical semiology of attention deficit hyperactivity disorder according to age, and the effectiveness of treatments at different ages]. / Semiología clínica del trastorno por déficit de atención con hiperactividad en función de la edad y eficacia de los tratamientos en las distintas edades

INTRODUCTION: Attention deficit hyperactivity disorder (ADHD) is the most important cause of poor academic performance and is also usually associated with behavioural, emotional and sociability disorders. AIM: To analyse the different clinical features and the response to psychostimulant therapy, according to the age. SUBJECTS AND METHODS: We reviewed the cases of 152 children referred to Neuropaediatrics owing to suspected ADHD over a 6-year period. Diagnosis and comorbidity were investigated by the looking at their case history, by examination and observation, as well as by interviewing the parents (DSM-IV criteria), and by applying Conners' Rating Scale for parents and teachers, in addition to neuropsychological tests. In order to improve data processing, we established four groups according to the patient's age at diagnosis and when treatment was started: G1: 3-5; G2: 6-8; G3: 9-11; and G4: 12-15 years. RESULTS: ADHD was diagnosed in 102 of the 152 children; 53% had the combined type, 26% were of the inattentional type, and 20% were hyperactive/impulsive. Poor school performance increased with age and reached 75% in G4. The same occurred with conduct disorders: at 6 years of age, 23% were found to have oppositional defiant disorder, and from the age of 9 onwards over 60% of them had conduct disorders. Up until 12 years of age they showed some improvement with psychostimulants and later the rate of dropouts from medical clinical controls and from treatment was over 40%. CONCLUSIONS: The older patients are and the later ADHD is attended, the more problems they have. If successful preventive measures are to be implemented, it would be advisable to begin treatment even before children start primary education (5 years old), so as to try and avoid the pedagogical and behavioural repercussions observed in these children at the age of 6.

[Coronary angiography with multislice computed tomography]. / Angiografía coronaria mediante tomografía computarizada multicorte.

Echocardiography allows visualization of the origin of the coronary arteries and their proximal trajectory but evaluation of the middle and distal portions of these vessels is limited. Invasive coronary angiography is currently the procedure of choice to evaluate coronary anatomy. New imaging techniques have recently been developed that allow coronary structures to be visualized. One of these techniques is multislice or multidetector computed tomography (MSCT) which provides a static image of the final distribution of contrast in the vascular tree. We report a patient in whom a differential diagnosis between myopericarditis and myocardial ischemia was being considered. MSCT coronary angiography allowed the coronary tree to be visualized and anomalies in this location to be ruled out. The main limitations of MSCT coronary angiography in children are elevated cardiac frequency, making high quality images difficult to obtain, and irradiation. Although the use of MSCT coronary angiography to evaluate coronary arteries in the pediatric population currently presents considerable limitations, this procedure can be useful in selected children with suspected congenital anomalies, aneurysms or coronary fistulas who are not considered suitable candidates for conventional invasive coronary angiography.

[Clinical progress of neonatal non-ketotic hyperglycinemia under treatment]. / Evolución de la hiperglicinemia no cetósica neonatal en tratamiento.

INTRODUCTION: Non-ketotic hyperglycinemia is a congenital error in the breakdown of glycine. The most common type is the classical neonatal form, which begins at the age of a few days with symptoms of lethargy, hypotonia, myoclonia, convulsions, apneas and, frequently, ends in death. Survivors usually develop intractable epilepsy and mental retardation. There is no effective treatment for this condition, but trials have been carried out with a therapy that diminishes the levels of glycine, benzoate (BZ), and another that blocks the excitatory effect in N-methyl-D-aspartate receptors: dextromethorphan (DTM). CASE REPORT: We report on the progress of a classical neonatal case, which began at the age of a few hours with hypotonia and stupor, without myoclonias or seizures, but with a suppression wave trace on the electroencephalogram (EEG). Cerebrospinal fluid (CSF) showed glycine levels of 141 micromol/L (the normal level is 6.66 +/- 2.66 micromol/L), with a CSF/plasma ratio of 0.19 (the normal ratio is < 0.02). Treatment was started on the thirteenth day with BZ and DTM, and alertness and eye fixation improved in just three days; at the same time the EEG readings become normal. The glycine level in plasma returned to normal at two months and that in CSF was considerably reduced, although with CSF/plasma levels that were still high. At present the patient is 4 years old, has never had convulsions, EEG results have always been normal, and continues with BZ, DTM, carnitine and diet. The patient has presented a high degree of hypermotoric behaviour, but is currently more attentive and more sociable, has been walking from the age of 35 months and has a quotient in the different areas of development of 40-50. CONCLUSIONS: The clinical progress made by our patient could be said to be anything but negligible, and we therefore recommend that treatment should be started as early as possible after diagnosis.

[Metabolic alterations related to syndrome X and low vitamin E levels in obese children with acanthosis nigricans]. / Alteraciones relacionadas con el síndrome X y bajos niveles de vitamina E en niños con obesidad y acantosis nigricans.

BACKGROUND: In adults, both metabolic alterations related to syndrome X and lower plasma vitamin E levels have been associated with an increased risk of developing cardiovascular disease. OBJECTIVES: To study the presence of metabolic alterations related to syndrome X and to determine the plasma levels of vitamin E in obese children with acanthosis nigricans. METHODS: We performed a prospective study in 42 obese children [15 with acanthosis nigricans (AN) and 27 without]. Thirteen healthy non-obese children were also studied. After a 12-hour fast, plasma levels of glucose, insulin, triglycerides, cholesterol, high-density lipoprotein (HDL)-cholesterol, and vitamin E were determined. The insulin resistance index was also calculated. Differences between groups were determined using ANOVA. RESULTS: Obese children with AN showed higher plasma levels of insulin and triglycerides and lower plasma levels of HDL-cholesterol and vitamin E, as well as a higher insulin resistance index than non-obese children and obese children without AN. CONCLUSIONS: In obese children, the presence of acanthosis nigricans is linked to a group of metabolic alterations associated with a higher risk of developing cardiovascular disease and type 2 diabetes.

[Presence of genu valgum in obese children: cause or effect?]. / Presencia de genu valgum en obesos: causa o efecto.

BACKGROUND: Changes in body configuration that may affect the physical activity may play a role in the caloric consumption and led to the development of obesity. OBJECTIVES: To determine the presence of genu valgum, an alteration that may decrease physical activity and caloric expenditure, in overweight children. METHODS: Thirty-five overweight children without any endocrinological alterations that could lead to obesity were studied. Twenty-nine non-overweight children of a similar age were studied as a control group. In all children weight, height, and body mass index (BMI) were studied, and intermalleolar distance was used to measure the degree of genu valgum. The differences between groups were studied using ANOVA and the correlation between variables was determined using Pearson's correlation. RESULTS: BMI was higher in overweight children than in the control group. Intermalleolar distance was greater in overweight children than in the non-overweight group (11.0 0.6 vs 2.90 0.43; p < 0.001). A positive correlation between the intermalleolar distance and the BMI was observed in the overweight group (p < 0.009). Fifty percent of the overweight children showed an intermalleolar distance of more than 10 cm, a value considered abnormal. CONCLUSIONS: The incidence of genu valgum is much higher in overweight children than in non-overweight children of the same age. This alteration may lead to decreased physical activity and lead to obesity.

[Congenital adrenal hyperplasia: an association with increased fetal nuchal translucency]. / Hiperplasia suprarrenal congénita: asociación con translucencia nucal fetal aumentada.

A neonate with increased nuchal translucency and congenital adrenal hyperplasia is described. The possible interferences in hormone assays when values are much higher than the average assay range are also discussed.

[Steatosis and cirrhosis secondary to insulin resistance in children. Possible physiopathological mechanisms]. / Esteatosis y cirrosis hepática asociada a resistencia insulínica.Posibles mecanismos fisiopatológicos.

We describe two girls who showed physical and biochemical features of insulin resistance and steatohepatitis. The possible pathophysiological mechanisms involved in fatty liver and hepatotoxicity are discussed.

[Precocious puberty and pituitary incidentaloma]. / Pubertad precoz e incidentaloma hipofisario.

The case of an 9-year-old girl with precocious puberty and a non-functioning pituitary adenoma is described. A review of the literature on the incidence, evolution and therapeutic options of pituitary incidentalomas in children and adults is performed.

[Primary hyperlipidemia in children and adolescents: effects of dietary and pharmacological intervention]. / Dislipemias primarias en la infancia y la adolescencia: efectos del tratamiento dietético y farmacológico.

A retrospective study was performed on children with hypercholesterolemia or hypertriglyceridemia referred to the Endocrine Clinic of the Niño Jesús University Hospital over a period of 5 years. One hundred twenty-seven children, from 2 to 16 years of age, were followed. The subjects were classified into the following groups: 90 with primary hyperlipidemia [55 polygenic hypercholesterolemia (PH), 23 familial hypercholesterolemia (FH) and 12 with familial combined hyperlipidemia (FCH)]; 2 with secondary hypercholesterolemia and 35 were found to have normal cholesterol and triglyceride values. All patients with primary hyperlipoproteinemia were instructed to carry out dietary intervention during a 6 month period, following the step I recommendations of the National Cholesterol Education Program (NCEP). The following results were obtained: In the group of children with PH and FH a decrease in total and LDL cholesterol was observed (p < 0.0001 for both groups). In the group of FH, a decrease in the LDL/HDL ratio was also observed (p < 0.01). In contrast, the group of children with FCH did not show any changes in the lipoprotein pattern after dietary intervention. In the three groups studied, no statistically significant differences were observed in the remaining parameters (HDL-C, VLDL, and apo A1) after dietary intervention. Lp(a) levels above 30 mg/dl were observed in 25%, 37% and 46% of the children with PH, FH and FCH, respectively. Nine patients with FH were treated with resins for 3 months. In these children a decrease in total and LDL cholesterol, apo B and in the LDL/HDL ratio was observed (p < 0.05). No changes in Lp(a) and HDL-C were observed in this group of children. In our experience, dietary intervention to reduce fat and cholesterol intake in children with primary hyperlipoproteinemia, a population at high risk of developing atherosclerosis, is safe and useful. The treatment with resins in children with FH improves their lipoprotein profile.