[Hypothalamic hamartoma in paediatric patients: clinical characteristics, outcomes and review of the literature]. / Hamartoma hipotalámico en la edad pediátrica: características clínicas, evolución y revisión de la literatura.

OBJECTIVE: To describe the epidemiological and clinical-electroencephalographic characteristics, and associated morbidity of patients with hypothalamic hamartoma, as well as the treatment followed and outcomes PATIENTS AND METHODS: We have retrospectively reviewed the medical histories of 10 patients diagnosed with hypothalamic hamartoma by magnetic resonance imaging over the last 20 years. RESULTS: The age of onset of epilepsy in patients with hypothalamic hamartoma in our series was between the first days of life and 2 years. Of the 10 total patients, 8 had epileptic seizures during its progress. All of them had gelastic seizures, in addition to other types of seizures, with the most common being partial simple seizures. The electroencephalographic findings recorded were highly variable. One of the patients developed epileptic encephalopathy. Five patients had some kind of conduct disorder. Five patients had cognitive problems. At least 2 different antiepileptic drugs were measured in 8 of the patients who had seizures, and in 6 of these some type of non-pharmacological treatment had been used with the objective of seizure control. Only in 3 of 8 patients has been achieved Acceptable control of epilepsy had only been achieved in 3 out the 8 patients. Five patients of the series developed precocious puberty. The average time of follow-up of the series was approximately 6 years. CONCLUSIONS: Epilepsy is the most frequent manifestation of hypothalamic hamartomas. Most cases were drug-resistant, which led to difficulties in the management of these patients, requiring surgery for their control on many occasions. Psychiatric comorbidity and cognitive impairment is common.

Levetiracetam efficacy in patients with Lennox-Gastaut syndrome. Presentation of a case.

INTRODUCTION: The Lennox-Gastaut syndrome (LGS) is one of the most severe epileptic encephalopathies of childhood, characterized by electro-clinical triad of generalized spike-wave activity, slow (POL) in the electroencephalogram (EEG), multiple types of seizures and development delay. This paper intends to describe the syndrome in a patient with a history of hypoxic-ischaemic encephalopathy and Lennox-Gastaut syndrome, and a good response to treatment with levetiracetam (LEV). METHOD: Descriptive study on the development of a 3 year old child with intrauterine asphyxia, multiorgan failure, metabolic acidosis, hypovolemic shock, and seizures with cerebral oedema, who developed a West syndrome, resistant to drug treatment. The semiology of seizures progressively changed to generalized episodes of hypertonia and myoclonus, with slow spike-wave electroencephalographic activity. RESULTS: With the diagnosis of Lennox-Gastaut syndrome the patient was treated with levetiracetam, showing a substantial improvement in the cognitive sphere, in the control of seizures, and electroencephalographic findings. CONCLUSIONS: Lennox-Gastaut syndrome is one of the most severe epileptic syndromes in paediatric patients. Levetiracetam can help cognitive improvement, and contribute to seizure control in these patients.

[Psychomotor development in late preterms at two years of age: a comparison with full-term newborn infants using two different instruments]. / Desarrollo psicomotor en prematuros tardios a los dos años de edad: comparacion con recien nacidos a termino mediante dos herramientas diferentes.

INTRODUCTION: Late preterm infants currently constitute 70% of preterm infant births. They present greater comorbidity, including neurodevelopment disorders, which may not manifest until the school age. AIM: To identify the existence of difficulties in the neurodevelopment at the age of two years. SUBJECTS AND METHODS: The psychomotor development was performed at two years of age in late preterm infants and term control group born at our center between January and September 2014, with Brunet-Lezine Revised test and Ages and Stages Questionnaires (ASQ-3) questionnaire. RESULTS: 88 children were included. Late preterm infants had lower scores in the language area and postural developmental. Girls achieved better results than males at global developmental age, oculo-motor coordination, language area and sociability. The ASQ-3 questionnaire detected differences in communication and socio-individual. Prematurity and male sex were identified as an independent risk factor to present a developmental disorder, prematurity for language impairment and male sex for younger developmental age and language impairment. The correlation between language assessment with the Brunet-Lezine Revised test and the ASQ-3 questionnaire was good, with a Pearson correlation coefficient of 0.7 (p < 0.001), showing the usefulness of the questionnaire. CONCLUSIONS: Late preterm infants have a lower developmental age in the language area at two years. Prematurity and male sex are risk factors for developmental disorder. Language assessment with the ASQ-3 questionnaire may be a useful tool to detect disorders and intervene early.

TITLE: Desarrollo psicomotor en prematuros tardios a los dos años de edad: comparacion con recien nacidos a termino mediante dos herramientas diferentes.Introduccion. Los prematuros tardios constituyen actualmente el 70% de los nacimientos prematuros. Presentan mayor comorbilidad, incluyendo las alteraciones del neurodesarrollo, que pueden no manifestarse hasta la escolarizacion. Objetivo. Identificar dificultades en el desarrollo neurologico a los dos años de edad. Sujetos y metodos. Se valoro el desarrollo psicomotor a los dos años de los prematuros tardios y del grupo control a termino nacidos en nuestro centro entre enero y septiembre del año 2014 mediante la escala de Brunet-Lezine revisada y el cuestionario de edades y etapas para la deteccion de trastornos del neurodesarrollo Ages and Stages Questionnaires (ASQ-3). Resultados. Se incluyo a 88 niños. Los prematuros tardios presentaron puntuaciones inferiores en el lenguaje y el desarrollo postural. Las niñas obtuvieron resultados superiores en la edad de desarrollo global, la coordinacion oculomotriz, el lenguaje y la sociabilidad. El cuestionario ASQ-3 detecto las diferencias en comunicacion y socioindividuales. Se identificaron como factores de riesgo para presentar alteracion del desarrollo la prematuridad, para alteracion del lenguaje, y el sexo masculino, para menor edad de desarrollo y alteracion del lenguaje. La correlacion entre la valoracion del lenguaje con la escala de Brunet-Lezine revisada y el cuestionario ASQ-3 fue buena, con un coeficiente de correlacion de Pearson de 0,7 (p < 0,001), lo que muestra la utilidad del cuestionario. Conclusiones. Los prematuros tardios presentan menor desarrollo del lenguaje a los dos años. La prematuridad y el sexo masculino son factores de riesgo para presentar alteracion. La valoracion del lenguaje con el cuestionario ASQ-3 puede ser util para detectar alteraciones.

[Restless legs syndrome in patients diagnosed with attention deficit hyperactivity disorder]. / Sindrome de piernas inquietas en pacientes diagnosticados de trastorno por deficit de atencion/hiperactividad.

INTRODUCTION: Restless legs syndrome (RLS) is a common neurological disease. RLS has been linked to various psychiatric disorders, especially with attention deficit hyperactivity disorder (ADHD). AIMS: The main objective was to describe the frequency of RLS in pediatric patients diagnosed with ADHD. Secondary objectives of the study were describe other sleep disorders in ADHD patients. PATIENTS AND METHODS: A multicentre prospective study was conducted in nine Spanish centers. We included children aged 6-18 years diagnosed with ADHD between January and June 2015. Data were collected by 13 researchers doctors through an interview with the parent/caregiver and with the child. To assess the degree of functioning of patients with ADHD we used the Children's Global Assessment Scale. The Sleep Disturbance Scale for Children was applied to screening sleep disorders in childhood. RESULTS: A sample of 73 patients was collected. Five patients (6.8%) met diagnostic criteria for RLS: four of them definitive and one probable. CONCLUSIONS: RLS is a frequent condition in adulthood but also in adolescence and childhood. ADHD patients have an increased risk of an RLS.

TITLE: Sindrome de piernas inquietas en pacientes diagnosticados de trastorno por deficit de atencion/hiperactividad.Introduccion. El sindrome de piernas inquietas (SPI) es una patologia neurologica comun. Se ha relacionado con diferentes trastornos psiquiatricos, especialmente con el trastorno por deficit de atencion/hiperactividad (TDAH). Objetivos. El objetivo principal fue describir la frecuencia del SPI en pacientes pediatricos diagnosticados de TDAH. Los objetivos secundarios del estudio fueron describir otros trastornos del sueño en pacientes con TDAH. Pacientes y metodos. Se realizo un estudio descriptivo prospectivo multicentrico en nueve centros españoles de niños de 6-18 años con diagnostico de TDAH entre enero y junio de 2015. Los datos fueron recogidos por 13 medicos investigadores mediante entrevista con el padre/cuidador y con el menor. Para valorar el grado de funcionamiento de los pacientes con TDAH se utilizo la Children's Global Assessment Scale. Se aplico la Sleep Disturbance Scale for Children de Bruni para el cribado del trastorno de sueño de la infancia. Resultados. Se recogio una muestra de 73 pacientes. Cinco pacientes (6,8%) cumplen criterios diagnosticos de SPI: cuatro de ellos definitivos y uno probable. Conclusiones. El SPI es una entidad frecuente en la edad adulta, pero tambien en la adolescencia y en la infancia. Los pacientes con TDAH tienen un riesgo aumentado de presentar de manera concomitante un SPI.

[Influenza virus infections in infants aged less than two years old]. / Infecciones por virus de la gripe en menores de dos años.

INTRODUCTION: Influenza is a major cause of respiratory tract illness in infants. The clinical characteristics of these infections are non-specific and the burden of influenza is frequently underestimated in very young children. The objective of this study was to describe confirmed influenza infections in infants < 2 years attended in a level II public hospital. A second-rate aim was to compare influenza infections in hospitalized infants with respiratory syncytial virus (VRS) infection in the same population. PATIENTS AND METHODS: We performed a descriptive, prospective study between 1991 and 2003 in infants younger than 24 months of age, who were admitted to the Severo Ochoa Hospital (Leganés. Madrid) with fever or respiratory tract infection. Virological diagnosis was made with direct immunofluorescent assay and/or reverse transcription-polymerase chain reaction on specimens obtained from nasopharyngeal washings. The patients' clinical characteristics were recorded. Patients with influenza infection were compared with a similar group of infants with RSV infection. RESULTS: We analyzed hospitalized 100 infants with influenza infection. Influenza caused 4.1% of the admissions in infants with fever or respiratory tract infection. Influenza A was isolated in 83%, influenza B in 12% and influenza C in 5% of the patients. The mean age of hospitalized infants was 8.3 +/- 5.9 months and the most frequent clinical diagnoses were bronchiolitis in 38%, recurrent wheezing in 25%, upper respiratory tract infection in 19% and pneumonia in 9%. Fever > 38 degrees C was present in 83% of the patients. Radiologic infiltrate was found in 65% of the children. Oxygen saturation less then 95% was present in 44%. In children under 6 months of age fever was less frequent (p = 0.049) and upper respiratory tract infection was more frequent (p = 0.01). Patients with influenza virus infection were older (p = 0.002), more frequently presented fever (p < 0.0001) and radiologic infiltrate (p < 0.001) than infants with RSV infection. Bronchiolitis was more frequent in the RSV group (p = 0.006). CONCLUSIONS: Influenza infection is a major cause of respiratory tract disease in hospitalized infants. It is an etiologic cause of bronchiolitis, recurrent wheezing, and fever and radiologic consolidations are frequent. Clinical presentation is milder in children under 6 month of age. The characteristics of influenza infection differ substantially from those of RSV infection.

[Respiratory infections due to metapneumovirus in hospitalized infants]. / Infecciones respiratorias por metapneumovirus en lactantes hospitalizados.

BACKGROUND: Human metapneumovirus (hPMV) is a recently identified virus that is recognized as a cause of respiratory tract illness in the pediatric population. OBJECTIVES: To determine the incidence of respiratory tract infections caused by hPMV in hospitalized infants and to describe the clinical characteristics and possible presence of coinfection with other viral agents. PATIENTS AND METHODS: We performed a prospective study from September to June 2003 in all children aged less than 24 months who were admitted to the Severo Ochoa Hospital (Leganés, Madrid) with a respiratory tract infection. Virological diagnosis was made with a direct immunofluorescent assay and/or reverse transcriptase-polymerase chain reaction on specimens obtained from nasopharyngeal washing. Demographic and clinical data from patients with an hPMV respiratory tract infection were analyzed. RESULTS: During the study period, 200 infants were admitted with a respiratory tract infection, of which 18 (9 %) had an hPMV infection. HPMV was the viral agent isolated in 13.8 % of positive nasopharyngeal washings. All patients were admitted between March and April. The mean age was 6.7 +/- 6.1 months. The most common diagnoses were recurrent wheezing (55.5 %) and bronchiolitis (38.8 %). Oxygen therapy was required by 55.5 % of infants during hospitalization. Coinfection with other respiratory viruses was confirmed in 33.3 % of the patients. CONCLUSIONS: Human metapneumovirus is a major cause of respiratory tract illness in hospitalized infants. This virus causes mainly bronchiolitis and recurrent wheezing and is more frequent in spring. Coinfection with other respiratory viruses is frequent.

[Chest radiograph in bronchiolitis: is it always necessary?]. / Radiografía de tórax en la bronquiolitis: es siempre necesaria?

BACKGROUND: The routine use of chest radiograph in infants with bronchiolitis increases health costs and can often unnecessarily expose the patient to radiation. OBJECTIVES: To evaluate the prevalence of infiltrate/atelectasis in infants younger than 2 years who presented to the emergency department with bronchiolitis, to assess whether patient management is changed after viewing the chest radiograph and to determine which clinical variables can accurately identify children with normal radiographs, with a view to reducing unnecessary radiological investigations. PATIENTS AND METHODS: From October 2003 to December 2004, infants aged < 24 months evaluated in the emergency department of the Severo Ochoa Hospital (Madrid) with a diagnosis of bronchiolitis were included in this study. The variables registered were age, sex, time since onset, respiratory rate, temperature, asymmetry on auscultation, oxygen saturation and the virus identified. A chest radiograph was obtained and the need for admission was evaluated before and after obtaining the results. RESULTS: Two hundred fifty-two infants were included, of which 50 % were aged less than 5 months. Infiltrate/atelectasis was identified in 14.3 % (95 % CI: 10.1-18.5; kappa coefficient: 0.64). Patients with infiltrate/atelectasis were 2.5 times more likely to have a temperature of > or = 38 degrees C (p: 0.004), O2 saturation of < 94 % (p: 0,006) and to be admitted before the results of chest radiograph were known. No differences were found between children with and without infiltrate in age at presentation, sex, disease duration, respiratory rate or identified virus. Patient management was modified in 30 % of patients with infiltrate/ atelectasis. Patients with a temperature of < 38 degrees and O2 saturation of > 94 % had a 92 % probability of normal chest radiograph. CONCLUSIONS: Most infants presenting with bronchiolitis had a normal chest radiograph. Temperature >or = 38 degrees and O2 saturation < 94 % were significantly associated with infiltrate/atelectasis. In most infants with bronchiolitis, the absence of fever and hypoxia are good predictors of normal chest radiographs.

[De novo sporadic mutation in the KCND3 gene in a patient with early onset chronic ataxia]. / Mutacion puntual de novo en el gen KCND3 en un paciente con ataxia cronica de inicio precoz.

TITLE: Mutacion puntual de novo en el gen KCND3 en un paciente con ataxia cronica de inicio precoz.

Panayiotopoulos syndrome: probable genetic origin, but not in SCN1A.

Panayiotopoulos syndrome is encompassed in the classification of the ILAE in idiopathic focal epilepsies. Mutations in the SCN1A gene have been associated with the development of this syndrome. We present two cases of Panayiotopoulos syndrome in two monozygotic twins, who underwent a molecular analysis of SCN1A, but no alteration was found. These cases suggest a genetic origin, and SCN1A appears to be associated with the outcome but not with the development of this syndrome.

[Arterial ischaemic stroke in children with cardiac diseases]. / Ictus arteriales isquémicos en niños con cardiopatías.

INTRODUCTION: The incidence of cerebral stroke in children has significantly increased in last years. Heart diseases are one of the best known risk factors in pediatric stroke. AIM. To describe the characteristics of the cerebral stroke in children with heart diseases, emphasizing in predisposing conditions, time to diagnosis, management and follow-up of patients. PATIENTS AND METHODS: We performed a retrospective study in children suffering from heart diseases with cerebral stroke admitted to our hospital that comprised 10 years. Type of cardiopathy, associated factors like surgery or catheterization, study of thrombophilia, clinical findings, methods and time to diagnosis, primary and secondary prophylaxis, treatment and long-term neurologic outcome were analyzed. RESULTS: Twenty patients were included in our study (age: from neonatal period to 15 years), eighteen of them were children with congenital cardiac disease. Eleven patients had antecedent of surgery and/or catheterism in the previous month. The most common clinical presentation was focal seizures. Time from clinical onset to diagnosis of stroke was longer than 24 hours in 60% of our patients. Fifty per cent of our patients did not receive any primary prophylaxis. Treatment was initiated in 70% of patients, but no one received thrombolysis. CONCLUSIONS: It is crucial to consider stroke when children with heart diseases show any neurologic symptom. Optimal diagnostic strategies must be established to low the delay of diagnosis in these patients, as well as randomised clinical trials in order to establish uniform guidelines in pediatric stroke.

[Central hypomyelination, hypogonadotrophic hypogonadism and hypodontia: a new leukodystrophy]. / Hipomielinización central, hipogonadismo hipogonadotrófico e hipodontia: una nueva forma de leucodistrofia.

AIM: To report one patient with slowly progressive encephalopathy, ataxia, central hypomyelination, hypodontia and hypogonadotropic hypogonadism, the 4H syndrome. This clinical picture has been described recently and there are only four patients reported previously. CASE REPORT: A girl with a previously normal early psychomotor development, presented a slowly progressive deterioration since 15 months of age. Now, she is 14 years old, and has a severe cerebellar ataxia, with tremor and dysmetria. She can't neither walk nor remain standing alone. She has lost the sphincter control and has an immature expressive language. She has no puberal development and definitive hypodontia of upper central incisors. The brain magnetic resonance imaging shows a diffuse hypomyelination, that is confirmed with diffusion and spectroscopy studies. CONCLUSION: The hypomyelinating leukoencephalopathies are disorders with abnormally low amount of myelin. The diagnosis is difficult in most of the patients. The hypomyelinating leukoencephalopathies include classic disorders and new leukoencephalopathies, described in the past few years.