[Idiopathic intracranial hypertension. Review of our experience in the last eight years (2016-2023)]. / Hipertensión intracraneal idiopática. Revisión de nuestra experiencia en los últimos ocho años (2016-2023).

INTRODUCTION: Idiopathic intracranial hypertension (IIH) or benign intracranial hypertension is a rare disease in childhood. The clinical presentation in pediatric patients can be very variable, being more unespecific in younger patients. PATIENTS AND METHODS: A retrospective descriptive study was carried out on patients diagnosed of IIH in the last eight years (2016-2023) in the neuropediatrics unit of a tertiary hospital. In the present study, the clinical-epidemiological characteristics and the diagnostic-therapeutic procedure carried out in each case were analyzed. RESULTS: We studied 14 patients, 57% were women. The average age at diagnosis was 9 years, headache was the most common reason for consultation. In all patients, papilledema was found in the fundus and neuroimaging didn´t find alterations. Optical coherence tomography has been carried out in 78.5% of the sample, > 80% of patients showed thickening of the retinal nerve fiber layer. All patients had a high cerebrospinal fluid opening pressure (>25 cmH2O). 57% of patients required treatment with acetazolamide, a carbonic anhydrase inhibito. In all patients the resolution was complete, however almost 30% of them have presented recurrences during follow-up. CONCLUSIONS: In recent years there has been an increase in the incidence of this entity, making early diagnosis and treatment essential to avoid possible irreversible damage.

TITLE: Hipertensión intracraneal idiopática. Revisión de nuestra experiencia en los últimos ocho años (2016-2023).Introducción. La hipertensión intracraneal idiopática (HII), o hipertensión intracraneal benigna, es una enfermedad poco frecuente en la infancia. La presentación clínica en pacientes pediátricos puede ser muy variable, y es más inespecífica a menor edad. Pacientes y métodos. Se ha realizado un estudio descriptivo retrospectivo de los pacientes diagnosticados de HII en los últimos ocho años (2016-2023) en la consulta de neuropediatría de un hospital de tercer nivel. En el presente estudio se analizaron las características clinicoepidemiológicas y el procedimiento diagnosticoterapéutico llevado a cabo en cada caso. Resultados. Se estudió a 14 pacientes, de los cuales el 57% eran mujeres. La edad media en el momento del diagnóstico fue de 9 años, y la cefalea fue el motivo de consulta más habitual. En todos los pacientes se constató papiledema en el fondo de ojo y una prueba de neuroimagen sin alteraciones. Se llevó a cabo una tomografía de coherencia óptica en el 78,5% de la muestra, y >80% de los pacientes presentaba engrosamiento de la capa de fibras nerviosas retiniana. La totalidad de los pacientes presentaba una presión de apertura de líquido cefalorraquídeo elevada (> 25 cmH2O). El 57% de los pacientes precisó como tratamiento acetazolamida, un inhibidor de la anhidrasa carbónica. En todos los pacientes la resolución fue completa; sin embargo, casi el 30% de ellos presentó recurrencias durante el seguimiento. Conclusiones. En los últimos años se ha mostrado un aumento en la incidencia de esta entidad, y es fundamental un diagnóstico y un tratamiento precoces para evitar posibles secuelas irreversibles.

[Zellweger syndrome. Reports on two new cases]. / Síndrome de Zellweger. Presentación de dos nuevos casos.

INTRODUCTION: Zellweger syndrome, or cerebrohepatorenal syndrome, is the most serious form of the peroxisomal diseases. Clinically, it is characterised by the association between craniofacial dysmorphia and neurological disorders, together with the involvement of other organs. To perform a diagnosis it is advisable to follow a procedural protocol that begins with the quantification of very long chain fatty acids in an assortment of samples (serum, fibroblasts and mononucleate cells), plasmalogens, branched chain fatty acids in serum (phytanic and pristanic acids), polyunsaturated acids and bile salts. Studies conducted with neuroimaging, renal echography, skeletal X rays and biopsy samples of different tissues will provide us with information about the involvement of different organs. CASE REPORTS: The first case we report is that of a male who, from birth, presented a distinctive phenotype with very large fontanelles, important hypotonia, epileptic seizures and acute organic disorders that led to death at the age of seven weeks. The second case involved a new born male suffering from prenatally diagnosed heart disease and craniofacial dysmorphia with hypotonia. CONCLUSIONS: Given the scarce survival rate of patients, early diagnosis of this type of disease is crucial and, although complex, a study must be conducted so as to be able to provide genetic counselling.

[Hair with a double crown and dilatation of Virchow-Robin spaces: a proposal for a new neurocutaneous association]. / Implantación del cabello en doble remolino y dilatación de los espacios de Virchow-Robin: propuesta de nueva asociación neurocutánea.

INTRODUCTION: The primitive ectoderm is the common origin of the nervous system, the skin and related organs. These structures can therefore be affected simultaneously by aggressions that take place during embryogenesis involving the ectodermal layer. To date multiple neurocutaneous associations have been reported, some of which were catalogued as genetically determined syndromes or diseases. Thus, it becomes possible to recognise these entities at an early stage, to carry out a better therapeutic approach to the neurological pathology and even, in some cases, to establish a prognosis. CASE REPORTS: We present five male patients between 2 and 7 years of age in whom we found a common pattern of deviated psychomotor and behavioural development consisting of a hyperactivity and impulsivity disorder associated to retarded language acquisition. Common to all of them was the hair growing with a double crown and dilatation of the Virchow-Robin spaces seen in the neuroimaging studies. CONCLUSIONS: We propose a clinical-radiological association that, to our knowledge, has no equivalent in the literature, and we highlight the importance of knowing how to recognise both the neuropsychiatric symptoms and the skin features, as well as the characteristic neuroimaging findings of this group of patients.

[A set of quality and safety indicators for hospitals of the "Agencia Valenciana de Salud"]. / Conjunto de indicadores de calidad y seguridad para hospitales de la Agencia Valenciana de Salud.

OBJECTIVES: To prepare a set of quality and safety indicators for Hospitals of the «Agencia Valenciana de Salud¼. MATERIAL AND METHODS: The qualitative technique Metaplan® was applied in order to gather proposals on sustainability and nursing. The catalogue of the «Spanish Society of Quality in Healthcare¼ was adopted as a starting point for clinical indicators. Using the Delphi technique, 207 professionals were invited to participate in the selecting the most reliable and feasible indicators. Lastly, the resulting proposal was validated with the managers of 12 hospitals, taking into account the variability, objectivity, feasibility, reliability and sensitivity, of the indicators. RESULTS: Participation rates varied between 66.67% and 80.71%. Of the 159 initial indicators, 68 were prioritized and selected (21 economic or management indicators, 22 nursing indicators, and 25 clinical or hospital indicators). Three of them were common to all three categories and two did not match the specified criteria during the validation phase, thus obtaining a final catalogue of 63 indicators. CONCLUSIONS: A set of quality and safety indicators for Hospitals was prepared. They are currently being monitored using the hospital information systems.

The influence of host fruit and temperature on the body size of adult Ceratitis capitata (Diptera: Tephritidae) under laboratory and field conditions.

The adult body size of the Mediterranean fruit fly, Ceratitis capitata (Wiedemann) (Diptera: Tephritidae), varies in natural conditions. Body size is an important fitness indicator in the Mediterranean fruit fly; larger individuals are more competitive at mating and have a greater dispersion capacity and fertility. Both temperature during larval development and host fruit quality have been cited as possible causes for this variation. We studied the influence of host fruit and temperature during larval development on adult body size (wing area) in the laboratory, and determined body size variation in field populations of the Mediterannean fruit fly in eastern Spain. Field flies measured had two origins: 1) flies periodically collected throughout the year in field traps from 32 citrus groves, during the period 2003-2007; and 2) flies evolved from different fruit species collected between June and December in 2003 and 2004. In the lab, wing area of male and female adults varied significantly with temperature during larval development, being larger at the lowest temperature. Adult size also was significantly different depending on the host fruit in which larvae developed. The size of the flies captured at the field, either from traps or from fruits, varied seasonally showing a gradual pattern of change along the year. The largest individuals were obtained during winter and early spring and the smallest during late summer. In field conditions, the size of the adult Mediterannean fruit fly seems apparently more related with air temperature than with host fruit. The implications of this adult size pattern on the biology of C. capitata and on the application of the sterile insect technique are discussed.

[Non-verbal learning disorders: a clinical study and pharmacological treatment]. / Trastornos del aprendizaje no verbal: estudio clínico y tratamiento farmacológico.

INTRODUCTION: Non-verbal learning disorder (NVLD) is the name given to a complex group of difficulties with a well-defined biological substrate. Their clinical manifestations affect the motor area, visuospatial organisation and the social competencies. AIM: To analyse the semiology that differentially identifies NVLD by means of a model of interpretation based on the experience gained in a non-verbal learning disorder service (NVLDS) and in the neuropaediatric unit of a hospital. PATIENTS AND METHODS: The study included 65 cases: 22 from a NVLDS (20 boys/2 girls), 17 between 6-11 years old and 5 between 12-16 years of age; and 43 cases from a hospital unit, with a mean age of 9.7 years (range: 8-16 years), of whom 59 were males (91%) and 6 were females (9%). The phenotype analysis was designed using a clinical inventory divided into four blocks (social, graphomotor, perceptive and attentional). Hospital sample: deficits in attention, motor control and perception (DAMP) (58%), graphomotor (18%), attentional (16%) and social (8%). NVLDS sample: graphomotor (35.8%), DAMP (29.8%), social (21%) and attentional (12%). RESULTS AND CONCLUSIONS: Clinical experience in NVLD is scarce. The early findings of this research encourage us to defend this 'NVLD continuum' model, in which the therapeutic response to psychopharmaceuticals is very similar to that of other processes, such as attention deficit hyperactivity disorder, although it does possess its own particularities especially with regard to distractibility and a misinterpreted paradoxical effect of methylphenidate.

Trastornos del aprendizaje no verbal: estudio clínico y tratamiento farmacológico / Non-verbal learning disorders: A Clinical study and pharmacoogial treatment

Introducción. El trastorno del aprendizaje no verbal (TANV) es un grupo complejo de dificultades con sustrato biológico definido. Sus manifestaciones clínicas afectan al área motora, a la organización visuoespacial y a las competencias sociales. Objetivo. Analizar la semiología que identifica diferencialmente al TANV a través de un modelo de interpretación que parte de la experiencia acumulada en una consulta de dificultades del aprendizaje no verbal (CDANV) y en una unidad de neuropediatría hospitalaria. Pacientes y métodos. 65 casos: 22 casos procedentes de la CDANV (20 niños/2 niñas), 17 entre 6-11 años y 5 entre 12-16 años; y 43 casos procedentes de la unidad hospitalaria, con una edad media de 9,7 años (rango: 8- 16 años). 59 hombres (91%) y 6 mujeres (9%). El análisis fenotípico se diseñó mediante un inventario clínico distribuido en cuatro bloques (social, grafomotor, perceptivo y atencional). Muestra hospitalaria: déficit de atención, del control motor y de la percepción (DAMP) (58%), grafomotor (18%), atencional (16%) y social (8%). Muestra CDANV: grafomotor (35,8%), DAMP (29,8%), social (21%) y atencional (12%). Resultados y conclusiones. Existe escasa experiencia clínica en el TANV. Los primeros resultados de esta investigación nos animan a defender este modelo de ‘continuo TANV’, en el que la respuesta terapéutica a los psicofármacos es muy parecida a la de otros procesos, como el trastorno por déficit de atención/hiperactividad, aunque con ciertas particularidades, especialmente las referentes a la distrabilidad y a un malinterpretado efecto paradójico al metilfenidato (AU)

Introduction. Non-verbal learning disorder (NVLD) is the name given to a complex group of difficulties with a well-defined biological substrate. Their clinical manifestations affect the motor area, visuospatial organisation and the social competencies. Aim. To analyse the semiology that differentially identifies NVLD by means of a model of interpretation based on the experience gained in a non-verbal learning disorder service (NVLDS) and in the neuropaediatric unit of a hospital. Patients and methods. The study included 65 cases: 22 from a NVLDS (20 boys/2 girls), 17 between 6-11 years old and 5 between 12-16 years of age; and 43 cases from a hospital unit, with a mean age of 9.7 years (range: 8-16 years), of whom 59 were males (91%) and 6 were females (9%). The phenotype analysis was designed using a clinical inventory divided into four blocks (social, graphomotor, perceptive and attentional). Hospital sample: deficits in attention, motor control and perception (DAMP) (58%), graphomotor (18%), attentional (16%) and social (8%). NVLDS sample: graphomotor (35.8%), DAMP (29.8%), social (21%) and attentional (12%). Results and conclusions. Clinical experience in NVLD is scarce. The early findings of this research encourage us to defend this ‘NVLD continuum’ model, in which the therapeutic response to psychopharmaceuticals is very similar to that of other processes, such as attention deficit hyperactivity disorder, although it does possess its own particularities especially with regard to distractibility and a misinterpreted paradoxical effect of methylphenidate (AU)

Síndrome de Holt-Oram / Holt-Oram syndrome

No disponible

Implantación del cabello en doble remolino y dilatación de los espacios de Virchow-Robin: propuesta de una nueva asociación neurocutánea / Hair with a double crown and dilatation of virchow-robin spaces: a proposal for a new neurocutaneous association

Introducción. El ectodermo primitivo es el origen común del sistema nervioso, la piel y sus anexos. Estas estructuras, por tanto, pueden afectarse de forma simultánea ante agresiones producidas durante la embriogénesis sobre la lámina ectodérmica. Hasta ahora se han descrito múltiples asociaciones neurocutáneas, algunas de ellas catalogadas como síndromes o enfermedades, la mayoría determinadas genéticamente. De esta forma, podemos reconocer precozmente dichas entidades, realizar un mejor abordaje terapéutico de la patología neurológica e incluso, en algunos casos, establecer un pronóstico. Casos clínicos. Presentamos cinco pacientes varones entre los 2 y los 7 años de edad en los que hemos encontrado un patrón común de desviación del desarrollo psicomotor y conductual consistente en un trastorno de hiperactividad e impulsividad asociado a un retraso en la adquisición del lenguaje. Todos ellos tenían en común tanto la implantación del cabello en doble remolino como la dilatación de los espacios de Virchow-Robin en el estudio de neuroimagen. Conclusiones. Proponemos una asociación clínicorradiológica de la cual no hemos encontrado equivalente en la literatura, y destacamos la importancia de saber reconocer tanto los síntomas neuropsiquiátricos como los rasgos cutáneos y los hallazgos de la neuroimagen característicos de este grupo de pacientes (AU)

Introduction. The primitive ectoderm is the common origin of the nervous system, the skin and related organs. These structures can therefore be affected simultaneously by aggressions that take place during embryogenesis involving the ectodermal layer. To date multiple neurocutaneous associations have been reported, some of which were catalogued as genetically determined syndromes or diseases. Thus, it becomes possible to recognise these entities at an early stage, to carry out a better therapeutic approach to the neurological pathology and even, in some cases, to establish a prognosis. Case reports. We present five male patients between 2 and 7 years of age in whom we found a common pattern of deviated psychomotor and behavioural development consisting of a hyperactivity and impulsivity disorder associated to retarded language acquisition. Common to all of them was the hair growing with a double crown and dilatation of the Virchow-Robin spaces seen in the neuroimaging studies. Conclusions. We propose a clinical-radiological association that, to our knowledge, has no equivalent in the literature, and we highlight the importance of knowing how to recognise both the neuropsychiatric symptoms and the skin features, as well as the characteristic neuroimaging findings of this group of patients (AU)

Síndrome de Zellweger. Presentación de dos nuevos casos / Zellweger syndrome. Reports on two new cases

Introducción. El síndrome de Zellweger o síndrome cerebro hepatorrenales la forma más grave de las enfermedades peroxisomales. Clínicamente, se caracteriza por la asociación de dismorfia craneofacial y alteraciones neurológicas, junto con la afectación de otros órganos. Para realizar el diagnóstico es conveniente recurrir a un protocolo de actuación que comienza con la cuantificación de los ácidos grasos de cadena muy larga en diversas muestras (suero,fibroblastos y células mononucleadas), plasmalógenos, ácidos ramificados en el suero (ácidos fitánico y pristánico), ácidos poliinsaturados y sales biliares; continúa con los estudios de neuroimagen, ecografía renal, radiografías de esqueleto, y concluye con la toma de muestras mediante biopsia de diversos tejidos, que nos aportará información acerca de la afectación de distintos órganos. Casos clínicos. Presentamos un primer caso de un varón que ya desde el nacimiento presenta un fenotipo peculiar, con fontanelas muy amplias, hipotonía grave, crisis epilépticas y agudas alteraciones orgánicas que condujeron al fallecimiento a las siete semanas de vida. El segundo caso corresponde a un recién nacido varón afectado de una cardiopatía diagnosticada prenatalmente y dismorfia craneofacial con hipotonía. Conclusiones.El diagnóstico precoz de este tipo de enfermedades es crucial, dada la escasa supervivencia de los pacientes y la necesidad de realizar un estudio que, a pesar de resultar complejo, es necesario para poder ofrecer un consejo genético (AU)