[Early onset epileptic encephalopathy in a patient with mutation in SCN8A]. / Encefalopatia epileptica de inicio precoz en un paciente con mutacion en SCN8A.

TITLE: Encefalopatia epileptica de inicio precoz en un paciente con mutacion en SCN8A.

Displasia cortical focal en paciente de 3 años con epilepsia parcial continua / Focal cortical dysplasia in a three years old patient with epilepsia partialis continua

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Déficit de carnitina palmitoil transferasa II: peculiaridades en su diagnóstico / Rhabdomyolysis due to carnitine palmitoyl transferase II deficiency

Introducción: El déficit de carnitina palmitoil transferasa II (CPT-II) es la miopatía metabólica más frecuente causante de crisis recurrentes de rabdomiólisis en la infancia, especialmente después del ejercicio. Caso clínico: Niño de 13 años que consulta por dolor muscular y orinas oscuras tras haber realizado ejercicio físico intenso. Como antecedentes personales destaca un episodio hace un año de similares características. Los hallazgos analíticos más relevantes fueron: CPK 283.400 UI/L [38-190], AST 4.178 UI/L [5-35], ALT 768 UI/L [5-26], LDH 4.100 UI/L [135-225] y mioglobinuria 17.446 µg/24 horas, con resto de parámetros analíticos dentro de la normalidad. Se realiza estudio metabólico en sangre y orina incluyendo: ácidos orgánicos, carnitina, acilcarnitinas, piruvato y lactato sin hallazgos patológicos. Ante la alta sospecha clínica y a pesar de la normalidad del estudio metabólico, se solicita estudio del gen de la CPT-II, encontrando la mutación c338C>T en homocigosis en dicho gen, lo cual confirma el diagnóstico. Conclusiones: El déficit de CPT-II es la causa más frecuente de rabdomiólisis recurrente en la infancia dentro de las miopatías metabólicas. Para su diagnóstico es fundamental una alta sospecha clínica. Los estudios que confirman el diagnóstico son el análisis genético o la medición de la actividad enzimática en músculo, a pesar de un estudio metabólico normal. Las medidas higiénico-dietéticas, evitando los periodos de ayuno y siguiendo una dieta rica en hidratos de carbono de absorción lenta permiten a estos niños llevar a cabo una vida normal

Introduction: Carnitine palmitoyl transferase II deficiency (CPT-II) is the most common inherited cause of recurrent episodes of rhabdomyolysis in childhood, especially after exertion. Case report: 13 year-old child with dark urine and myalgia after prolonged exercise. His medical history included a similar event a year ago. The main laboratory findings were: CPK 283,400 IU / L [38-190], AST 4,178 IU / L [5-35], ALT 768 IU / L. [5-26], LDH 4100 IU / L [135-225] and myoglobinuria 17,446 µg / 24 hours. Metabolic study in plasma and urine was performed including: organic acids, carnitine, acylcarnitines, pyruvate and lactate without abnormal findings. Given the high clinical suspicion and despite normal metabolic study, study of gene CPT-II is requested showing c338C>T homozygous mutation which confirms the diagnosis. Conclusions: CPT-II deficiency is the most common cause of recurrent episodes of rhabdomyolysis in childhood. High clinical suspicion is the main factor in the diagnostic process. Genetic analysis or enzyme activity measurement in muscle will confirm the diagnosis despite normal metabolic studies in plasma and urine. Treatment consists of nutritional modifications including avoidance of fasting and a high slow burning carbohydrates diet

Revisión crisis parainfecciosas de enero del 2012 a marzo del 2014 / Review of para-infectious seizures from January 2012 to March 2014

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Corea como comienzo de síndrome antifosfolípido / Chorea as a first sign of anti-phospholipid syndrome

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Análisis de una serie de casos con diagnóstico inicial de encefalomielitis aguda diseminada en el período 2000-2010 / Analysis of a series of cases with an initial diagnosis of acute disseminated encephalomyelitis over the period 2000-2010

Introducción. La encefalomielitis aguda diseminada (EMAD) es una enfermedad desmielinizante que afecta fundamentalmente a la sustancia blanca del sistema nervioso central. El diagnóstico se basa en hallazgos clinicorradiológicos y evolutivos. La resonancia magnética cerebral es la herramienta diagnóstica más útil. El curso suele ser monofásico y el tratamiento inicial de elección, los corticoides.Pacientes y métodos. Estudio retrospectivo de 18 pacientes con diagnóstico de sospecha inicial de EMAD. Se analizó la sintomatología, los hallazgos radiológicos, la evolución y el tratamiento. El diagnóstico definitivo se estableció en 12 pacientes, excluyendo un paciente con reacción en cadena de la polimerasa positiva para el virus herpes simple en el líquido cefalorraquídeo, uno con clínica compatible pero resonancia magnética cerebral normal, y cuatro con inicio similar a EMAD cuyos diagnósticos definitivos fueron: síndrome de Rassmusen, síndrome hemofagocítico, tumor cerebral y MELAS(encefalomiopatía mitocondrial con acidosis láctica y accidentes cerebrovasculares). Resultados. La mediana de edad fue de 31 meses, sin predominio de sexo. La infección de la vía respiratoria superior fue la causa más frecuente en niños mayores y la gastrointestinal, en menores de 2 años. Todos presentaron alteración en el nivel de conciencia y déficits neurológicos multifocales. El hallazgo radiológico más frecuente fue la alteración multifocal bihemisférica de la sustancia blanca. Los corticoides fueron el tratamiento de elección en la mayoría. La evolución fue favorable en casi todos los pacientes excepto en dos, que tuvieron secuelas importantes. Conclusiones. La EMAD puede presentarse a cualquier edad, incluyendo lactantes. Hay múltiples entidades que pueden simular una EMAD en un inicio (AU)

Introduction. Acute disseminated encephalomyelitis (ADEM) is a demyelinating disease that essentially affects the white matter of the central nervous system. The diagnosis is based on clinical-imaging and developmental findings. Magnetic resonance imaging of the brain is the most useful diagnostic tool. The disease course is usually monophasic and the preferred initial treatment is with corticoids. Patients and methods. We conducted a retrospective study of 18 patients with a presumptive diagnosis of ADEM. Symptoms, imaging findings, progress and treatment were analysed. The definitive diagnosis was established in 12 patients, excluding one patient with positive polymerase chain reaction for herpes simplex virus in cerebrospinal fluid, one with a clinicalpicture that was consistent but normal magnetic resonance imaging of the brain, and four with an onset that was similar to ADEM whose definitive diagnoses were: Rassmusen’s syndrome, haemophagocytic syndrome, brain tumour, and MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes). Results. The median age was 31 months with no predominance of either sex. Infection of the upper respiratory tract was the most frequent cause in children over 2 years of age and of the gastrointestinal tract in those under the age of 2. All of them presented altered levels of consciousness and multifocal neurological deficits. The most frequent imaging finding was multifocal alteration of the white matter in both hemispheres. Corticoids were the preferred treatment in most cases. Progression was favourable in nearly all patients except for two, who were left with important sequelae. Conclusions. ADEM may present at any age, including in infants. There are a number of conditions that can mimic ADEM in the early stages (AU)

Cuestionario sobre cuidados paliativos a neuropediatras / Responses by neuropaediatricians to a palliative care questionnaire

Introducción: Actualmente en torno al 70% de los niños atendidos en cuidados paliativos (CP) son enfermos neurológicos. Nuestro objetivo es valorar el grado de formación, interés e implicación de los neuropediatras de España en relación con los cuidados paliativos pediátricos (CPP). Material y métodos: Nos dirigimos a 297 neuropediatras mediante correo electrónico, adjuntando 10 preguntas tipo test. En ellas se hace referencia al conocimiento de los CPP, reconocimiento de pacientes con estas necesidades, implicación del neuropediatra, conocimiento y utilización de recursos paliativos, y formación individual sobre estos temas. Resultados: Participa el 32% (96/297). En torno al 90% conoce qué son los CPP, reconoce a pacientes con pronóstico vital acortado y ha atendido a niños que finalmente han fallecido debido a su enfermedad. El 61% ha realizado alguna vez un informe de «no reanimación». El 77% considera la casa como el lugar idóneo para fallecer (si la atención es adecuada), el 9% el hospital y el 14% cualquiera de los dos previos. El 52% ha contactado alguna vez con recursos locales de CP y el 61% deriva o derivaría pacientes para que sean seguidos conjuntamente (por CP y neuropediatría). Más de la mitad considera no tener formación suficiente para atender estos pacientes y al 80% le gustaría ampliar sus conocimientos en CPP.Conclusión: Los neuropediatras encuestados atienden con frecuencia niños con pronóstico vital acortado. El grado de implicación con estos pacientes es alto, aunque mayoritariamente se necesita y se desea mayor formación en CP para proporcionar mejor atención a estos enfermos (AU)

Introduction: Up to 70% of children currently treated by Palliative Care Units in Europe are neurological patients. Our objective is to assess the knowledge, interest and involvement in Paediatric Palliative Care (PPC) among Spanish paediatric neurologists. Material and methods:We contacted 297 Neuropaediatricians by and attached a 10-question multiple choice test. This questionnaire was related to the level of knowledge of PPC, identification of patients requiring this specific care, involvement of a paediatric neurologist, use of local palliative resources, and formal training in this subject. Results: Participation rate was 32% (96/297). Around 90% knew the definition of PPC, could identify patients with a short-term survival prognosis, and had treated children who eventually died due to their illnesses. A "non resuscitation order" had been written by 61% of them at least once; 77% considered the patient's home as the preferred location of death (if receiving appropriate care), 9% preferred the hospital, and 14% had no preference for any of these options. Just over half (52%) had contacted local PC resources, and 61% had referred or would refer patients to be seen periodically by both services (PC and Paediatric Neurology). More than half (55%) consider themselves not trained enough to deal with these children, and 80% would like to increase their knowledge about PPC.Conclusion: The paediatric neurologists surveyed frequently deal with children who suffer from incurable diseases. Their level of involvement with these patients is high. However, there is an overwhelming necessity and desire to receive more training to support these children and their families (AU)

[Responses by neuropaediatricians to a palliative care questionnaire]. / Cuestionario sobre cuidados paliativos a neuropediatras.

INTRODUCTION: Up to 70% of children currently treated by Palliative Care Units in Europe are neurological patients. Our objective is to assess the knowledge, interest and involvement in Paediatric Palliative Care (PPC) among Spanish paediatric neurologists. MATERIAL AND METHODS: We contacted 297 Neuropaediatricians by and attached a 10-question multiple choice test. This questionnaire was related to the level of knowledge of PPC, identification of patients requiring this specific care, involvement of a paediatric neurologist, use of local palliative resources, and formal training in this subject. RESULTS: Participation rate was 32% (96/297). Around 90% knew the definition of PPC, could identify patients with a short-term survival prognosis, and had treated children who eventually died due to their illnesses. A "non resuscitation order" had been written by 61% of them at least once; 77% considered the patient́s home as the preferred location of death (if receiving appropriate care), 9% preferred the hospital, and 14% had no preference for any of these options. Just over half (52%) had contacted local PC resources, and 61% had referred or would refer patients to be seen periodically by both services (PC and Paediatric Neurology). More than half (55%) consider themselves not trained enough to deal with these children, and 80% would like to increase their knowledge about PPC. CONCLUSION: The paediatric neurologists surveyed frequently deal with children who suffer from incurable diseases. Their level of involvement with these patients is high. However, there is an overwhelming necessity and desire to receive more training to support these children and their families.