¿Espasmo del sollozo prolongado o crisis epiléptica?: descripción de tres niñas con crisis epilépticas desencadenadas por anoxia / Breath-holding spell or epileptic seizure? A description of three girls with epileptic seizures triggered by anoxia

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Next generation sequencing for rapid diagnosis of a rare early onset spastic paraplegia: A novel pathological variant in FA2H gene / Secuenciación de nueva generación para el diagnóstico rápido de una paraparesia espástica rara de aparición infantil: nueva variante patológica en el gen FA2H

Introduction: Hereditary spastic paraplegia is a group of inherited neurological disorders with predominant manifestations of lower extremity weakness and severe spasticity. This is a genetically heterogeneous disorder very difficult to distinguish clinically with many genes described. Few patients with this condition have been previously reported. Patient and methods: We present a case of a 5 years old girl, born from consanguineous parents, with severe ataxia and progressive spasticity of low limbs. Due to the severity of the symptoms and the need for early diagnosis, next generation sequencing study of 37 genes implicated in spastic paraplegia was performed. Results: A novel pathological variant in FA2H gene was discovered. Father, mother and brother were heterozygous carriers. Conclusions: Spastic paraplegia due to mutations in FA2H is an under diagnosed condition, and it should always be considered in childhood onset of progressive pyramidal dysfunction. Next Generation Sequencing allows a simultaneous analysis of many genes, enables a fast diagnosis in complex disorders

Introducción: La paraparesia espástica es un grupo de enfermedades neurológicas hereditarias que cursan con debilidad de las extremidades inferiores y espasticidad severa. Es una enfermedad muy heterogénea, con muchos genes descritos y muy difícil de distinguir clínicamente. Hay pocos pacientes descritos con esta enfermedad. Pacientes y métodos: Se presenta un caso de una niña de 5 años, de padres consanguíneos, con una ataxia severa y espasticidad progresiva de los miembros inferiores. Dada la gravedad de la clínica y la necesidad de un diagnóstico temprano, se decide realizar un panel de secuenciación masiva de 37 genes implicados en paraparesia espástica. Resultados: Los resultados muestran una variante patológica no descrita previamente en el gen FA2H. El padre, la madre y el hermano resultan portadores heterocigotos. Conclusiones: La paraparesia espástica debida a mutaciones en el gen FA2H está infradiagnosticada y debería ser considerada siempre que aparezcan síntomas en la infancia de disfunción piramidal grave y progresiva. Los paneles de secuenciación masiva con el análisis simultáneo de varios genes están permitiendo un diagnóstico más rápido en enfermedades complejas

Síndrome de piernas inquietas en pacientes diagnosticados de trastorno por déficit de atención/hiperactividad / Restless legs syndrome in patients diagnosed with attention deficit hyperactivity disorder

Introducción. El síndrome de piernas inquietas (SPI) es una patología neurológica común. Se ha relacionado con diferentes trastornos psiquiátricos, especialmente con el trastorno por déficit de atención/hiperactividad (TDAH). Objetivos. El objetivo principal fue describir la frecuencia del SPI en pacientes pediátricos diagnosticados de TDAH. Los objetivos secundarios del estudio fueron describir otros trastornos del sueño en pacientes con TDAH. Pacientes y métodos. Se realizó un estudio descriptivo prospectivo multicéntrico en nueve centros españoles de niños de 6-18 años con diagnóstico de TDAH entre enero y junio de 2015. Los datos fueron recogidos por 13 médicos investigadores mediante entrevista con el padre/cuidador y con el menor. Para valorar el grado de funcionamiento de los pacientes con TDAH se utilizó la Children’s Global Assessment Scale. Se aplicó la Sleep Disturbance Scale for Children de Bruni para el cribado del trastorno de sueño de la infancia. Resultados. Se recogió una muestra de 73 pacientes. Cinco pacientes (6,8%) cumplen criterios diagnósticos de SPI: cuatro de ellos definitivos y uno probable. Conclusiones. El SPI es una entidad frecuente en la edad adulta, pero también en la adolescencia y en la infancia. Los pacientes con TDAH tienen un riesgo aumentado de presentar de manera concomitante un SPI (AU)

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 (AU)

[The importance of sleep problems in children with headache and other neurodevelopmental disorders in neuropaediatric services]. / Importancia de los problemas de sueño en los niños con cefalea y otros trastornos del neurodesarrollo en las consultas de neuropediatria.

INTRODUCTION: Sleep disorders are common in children with neurological disorders. The aim of this study is to know the opinion of neuropediatricians and the prevalence of these disturbances in Spain. PATIENTS AND METHODS: Multicenter cross-sectional study (12 Spanish hospitals, 15 researchers). BEARS survey was collected in three groups: A (2-5 years), (6-12 years), and C (> 12 years). The opinion of neuropediatricians was also collected. RESULTS: 939 questionnaires were filled. The main results in groups B and C were ADHD (32.4% and 30.1% respectively) and headache (25.1% and 27.6% respectively), whereas in group A neurodevelopmental disorders (32.4%) and epilepsy (21.4%) were the main diagnoses. Disturbances in at least one area of sleep were found in 92% of children in group A (n = 209, mean 3 years), 64.2% in group B (n = 534, mean 9.4 years) and 58.2% in group C (n = 196, mean 13.7 years). Sixty-one surveys were answered by neuropediatricians (16.75% of the total sent), estimating that less than a quarter of the patients (24.5%) suffered. Even, up to 23% of doctors claimed that the prevalence of sleep disorders was < 10%. CONCLUSIONS: 58-92% of parents-patients under follow up at a neuropediatrician office in Spain have some degree of disturbed sleep. Although most neurologists emphasize the importance of an early diagnosis and treatment of sleep disorders in children with neurological disorders, its frequency is often underestimated (risk of underdiagnosis).

TITLE: Importancia de los problemas de sueño en los niños con cefalea y otros trastornos del neurodesarrollo en las consultas de neuropediatria.Introduccion. Los trastornos de sueño son frecuentes en niños con trastornos neurologicos. El objetivo del estudio es conocer la opinion de los neuropediatras y su prevalencia real en España. Pacientes y metodos. Estudio transversal multicentrico (12 hospitales españoles, 15 investigadores). Se administro la encuesta Bedtime, Excesive Daytime Sleepiness, Awakenings, Regularity, Sleep-Disordered Breathing (BEARS) y se definieron tres grupos: A (2-5 años), B (6-12 años) y C (> 12 años). Asimismo, se recogio la opinion de neuropediatras de la Sociedad Española de Neuropediatria mediante una encuesta anonima. Resultados. Se recogieron 939 encuestas. Los principales motivos de consulta en los grupos B y C fueron trastorno por deficit de atencion/hiperactividad (32,4% y 30,1%, respectivamente) y cefalea (25,1% y 27,6%, respectivamente), y en el grupo A, los trastornos del neurodesarrollo (32,4%) y la epilepsia (21,4%). Al menos un area del sueño alterada se encontro en el 92,9% de niños del grupo A (n = 209; media: 3 años), en el 64,2% del grupo B (n = 534; media: 9,4 años) y en el 58,2% del grupo C (n = 196; media: 13,7 años). Se recibieron 61 encuestas respondidas por los neuropediatras (16,75% de las enviadas), quienes estimaban que los trastornos del sueño afectaban a menos de una cuarta parte de sus pacientes (24,5%), y hasta un 23% afirmo que la prevalencia era inferior al 10%. Conclusion. El 58-92% de los padres-pacientes que acuden a consultas de neuropediatria refiere tener algun aspecto del sueño alterado. Aunque la mayoria de los neuropediatras subraya la importancia de un diagnostico y tratamiento de los trastornos de sueño de los niños con trastornos neurologicos, se suele infraestimar su frecuencia e importancia.

Importancia de los problemas de sueño en los niños con cefalea y otros trastornos del neurodesarrollo en las consultas de neuropediatría / The importance of sleep problems in children with headache and other neurodevelopmental disorders in neuropaediatric services

Introducción. Los trastornos de sueño son frecuentes en niños con trastornos neurológicos. El objetivo del estudio es conocer la opinión de los neuropediatras y su prevalencia real en España. Pacientes y métodos. Estudio transversal multicéntrico (12 hospitales españoles, 15 investigadores). Se administró la encuesta Bedtime, Excesive Daytime Sleepiness, Awakenings, Regularity, Sleep-Disordered Breathing (BEARS) y se definieron tres grupos: A (2-5 años), B (6-12 años) y C (> 12 años). Asimismo, se recogió la opinión de neuropediatras de la Sociedad Española de Neuropediatría mediante una encuesta anónima. Resultados. Se recogieron 939 encuestas. Los principales motivos de consulta en los grupos B y C fueron trastorno por déficit de atención/hiperactividad (32,4% y 30,1%, respectivamente) y cefalea (25,1% y 27,6%, respectivamente), y en el grupo A, los trastornos del neurodesarrollo (32,4%) y la epilepsia (21,4%). Al menos un área del sueño alterada se encontró en el 92,9% de niños del grupo A (n = 209; media: 3 años), en el 64,2% del grupo B (n = 534; media: 9,4 años) y en el 58,2% del grupo C (n = 196; media: 13,7 años). Se recibieron 61 encuestas respondidas por los neuropediatras (16,75% de las enviadas), quienes estimaban que los trastornos del sueño afectaban a menos de una cuarta parte de sus pacientes (24,5%), y hasta un 23% afirmó que la prevalencia era inferior al 10%. Conclusión. El 58-92% de los padres-pacientes que acuden a consultas de neuropediatría refiere tener algún aspecto del sueño alterado. Aunque la mayoría de los neuropediatras subraya la importancia de un diagnóstico y tratamiento de los trastornos de sueño de los niños con trastornos neurológicos, se suele infraestimar su frecuencia e importancia (AU)

Introduction. Sleep disorders are common in children with neurological disorders. The aim of this study is to know the opinion of neuropediatricians and the prevalence of these disturbances in Spain. Patients and methods. Multicenter cross-sectional study (12 Spanish hospitals, 15 researchers). BEARS survey was collected in three groups: A (2-5 years), (6-12 years), and C (> 12 years). The opinion of neuropediatricians was also collected. Results. 939 questionnaires were filled. The main results in groups B and C were ADHD (32.4% and 30.1% respectively) and headache (25.1% and 27.6% respectively), whereas in group A neurodevelopmental disorders (32.4%) and epilepsy (21.4%) were the main diagnoses. Disturbances in at least one area of sleep were found in 92% of children in group A (n = 209, mean 3 years), 64.2% in group B (n = 534, mean 9.4 years) and 58.2% in group C (n = 196, mean 13.7 years). Sixty-one surveys were answered by neuropediatricians (16.75% of the total sent), estimating that less than a quarter of the patients (24.5%) suffered. Even, up to 23% of doctors claimed that the prevalence of sleep disorders was < 10%. Conclusions. 58-92% of parents-patients under follow up at a neuropediatrician office in Spain have some degree of disturbed sleep. Although most neurologists emphasize the importance of an early diagnosis and treatment of sleep disorders in children with neurological disorders, its frequency is often undesestimated (risk of underdiagnosis) (AU)

[Benign childhood epilepsies: academic difficulties and behavioural disorders]. / Epilepsias benignas de la infancia: dificultades académicas y alteraciones comportamentales.

INTRODUCTION: Some papers published in the literature have shown that patients can present behavioural disorders and learning difficulties in benign childhood epilepsies (BCE). AIMS: To review the patients diagnosed with BCE in our hospital and to determine whether they present such disorders. PATIENTS AND METHODS: The study consisted in a retrospective review of the medical records of patients diagnosed with BCE. An electroencephalogram (EEG) or video-EEG-polygraph recordings were performed on all patients during sleep. The Wechsler Intelligence Scale for Children was used to evaluate intelligence. RESULTS: Data were collected for 102 patients diagnosed with BCE. Dispersed attention was observed in 51.6% of the patients with rolandic epilepsy and 16.2% displayed an impulsive temperament. In the group of patients with Panayiotopoulos syndrome, 30.3% displayed dispersed attention and 27.3% presented an impulsive temperament. A psychometric evaluation was carried out in 43 patients. The overall mean intelligence quotient was 95 (range: 55-126). In the three groups, academic achievement was good in approximately half the sample, regular in about 30% and poor in around 15%. In the group with rolandic epilepsy, the EEG showed a relation between frontal (p = 0.039) and occipital paroxysms (p = 0.004) and poorer academic achievement. In this group, the children with behaviours classed as dispersed, impulsive or hyperactive showed left-side paroxysms more frequently (p = 0.030). CONCLUSIONS: BCE are conditions with a good prognosis, but seem to be associated to learning and behavioural disorders. Neuropsychological studies should be conducted on these patients to detect these disorders.

Procalcitonin, a high acute phase reactant in antiepileptic hypersentivity syndrome in pediatric age.

Antiepileptic hypersensitivity syndrome (AHS) is a potentially life-threatening syndrome in pediatric cases. It is associated with aromatic anticonvulsivant drugs and others antibiotics with or without associated reactivation of virus. The pathogenesis of the process is not clear. Clinical feature of this syndrome include cutaneous reactions, fever and lymphadenopathies, but different organs can be involved. In laboratory analyses we can find leucocytosis, eosinophilia, and increase in transaminase levels. Significant elevation of procalcitonin (PCT) has been described in two adults patients. This study we report two cases of a 14-year-old male and a 13-year-old female with a AHS and a high level of the PCT. These are the first cases described in pediatric age. Establishing a diagnosis of AHS is important to avoid the use of the involved drug. The treatment is based on the withdrawal of the drugs that are supposed and if there is no improvement or a deterioration of the patient, the use of systemic corticosteroids is often useful.