[Mitochondrial DNA depletion syndrome-13: a case with an unusual onset]. / Síndrome de depleción de ADN mitocondrial tipo 13: un caso con un inicio poco común.

TITLE: Síndrome de depleción de ADN mitocondrial tipo 13: un caso con un inicio poco común.

Epilepsia ausencia infantil. Pronóstico a largo plazo / Long-term prognosis of childhood absence epilepsy

Introducción: La epilepsia ausencia infantil (EAI) se considera una forma de epilepsia de fácil control farmacológico solo si se emplean criterios estrictos para la clasificación de los pacientes. Supone el 10% de las epilepsias infantiles de inicio antes de los 15 años y es más frecuente en niñas escolares. El objetivo es conocer la evolución a largo plazo de los pacientes atendidos en la etapa infantil con EAI empleando los criterios de Loiseau y Panayiotopoulos Métodos: Estudio retrospectivo de 69 pacientes con EAI con edad actual mayor de 11 años, realizado mediante revisión de historias clínicas, EEG y cuestionario telefónico. Resultados: Cumplieron los criterios de Loiseau y Panayiotopoulos 52 pacientes, edad actual media 17,61 años. Relación mujeres/hombres: 1,65/1; edad de inicio media: 6 años y 2 meses; duración total de tratamiento media: 3 años y 9 meses; antecedentes familiares de epilepsia: 30,8%; antecedentes personales de crisis febriles: 7,7%; tipo de ausencias: simples 73,5%, complejas: 26,5%; respuesta al primer tratamiento: ácido valproico 46,3% o ácido valproico con etosuximida simultáneos 90,9%; respuesta al segundo tratamiento (etosuximida o lamotrigina) 84,2%; crisis tras supresión de tratamiento: 4%; pacientes en remisión terminal: 78,8%; necesidad de apoyo psicopedagógico: 25%. Conclusiones: Nuestros datos muestran la utilidad de clasificar a los pacientes utilizando criterios estrictos ya que el pronóstico de las crisis del síndrome de EAI puro es excelente. Encontramos que la tasa de recaídas ha sido muy baja. A pesar del favorable pronóstico en cuanto al control de crisis necesitan apoyos psicopedagógicos en un alto porcentaje

Introduction: Childhood absence epilepsy (CAE) is considered easily manageable with medication provided that a strict patient classification system is employed. It accounts for 10% of all childhood epilepsy cases starting before the age of 15 and it is most frequent in school-aged girls. The aim of this study is to analyse long-term outcomes of patients diagnosed with CAE according to the Loiseau and Panayiotopoulos criteria and treated during childhood. Methods: We conducted a retrospective study including 69 patients with CAE who are currently older than 11; data were gathered from medical histories, EEG records, and telephone questionnaires. Results: 52 patients met the Loiseau and Panayiotopoulos criteria. Mean age is now 17.16 years. Female-to-male ratio was 1.65:1; mean age at onset was 6 years and 2 months; mean duration of treatment was 3 years and 9 months. A family history of epilepsy was present in 30.8% of the patients and 7.7% had a personal history of febrile convulsions. Absence seizures were simple in 73.5% of the patients and complex in 26.5%. Response rates to first-line treatment were as follows: valproic acid, 46.3%; and valproic acid plus ethosuximide, 90.9%. The rate of response to second-line therapy (ethosuximide or lamotrigine) was 84.2%; 4% of the patients experienced further seizures after treatment discontinuation, 78.8% achieved seizure remission, and 25% needed psychological and academic support. Conclusions: Our data show that epileptic patients should be classified according to strict diagnostic criteria since patients with true CAE have an excellent prognosis. The relapse rate was very low in our sample. Despite the favourable prognosis, psychological and academic support is usually necessary

Miastenia congénita y defecto congénito de la glucosilación por mutaciones en el gen DPAGT1 / Congenital myasthenia and congenital disorders of glycosylation caused by mutations in the DPAGT1 gene

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Long-term prognosis of childhood absence epilepsy. / Epilepsia ausencia infantil. Pronóstico a largo plazo.

INTRODUCTION: Childhood absence epilepsy (CAE) is considered easily manageable with medication provided that a strict patient classification system is employed. It accounts for 10% of all childhood epilepsy cases starting before the age of 15 and it is most frequent in school-aged girls. The aim of this study is to analyse long-term outcomes of patients diagnosed with CAE according to the Loiseau and Panayiotopoulos criteria and treated during childhood. METHODS: We conducted a retrospective study including 69 patients with CAE who are currently older than 11; data were gathered from medical histories, EEG records, and telephone questionnaires. RESULTS: 52 patients met the Loiseau and Panayiotopoulos criteria. Mean age is now 17.16 years. Female-to-male ratio was 1.65:1; mean age at onset was 6 years and 2 months; mean duration of treatment was 3 years and 9 months. A family history of epilepsy was present in 30.8% of the patients and 7.7% had a personal history of febrile convulsions. Absence seizures were simple in 73.5% of the patients and complex in 26.5%. Response rates to first-line treatment were as follows: valproic acid, 46.3%; and valproic acid plus ethosuximide, 90.9%. The rate of response to second-line therapy (ethosuximide or lamotrigine) was 84.2%; 4% of the patients experienced further seizures after treatment discontinuation, 78.8% achieved seizure remission, and 25% needed psychological and academic support. CONCLUSIONS: Our data show that epileptic patients should be classified according to strict diagnostic criteria since patients with true CAE have an excellent prognosis. The relapse rate was very low in our sample. Despite the favourable prognosis, psychological and academic support is usually necessary.

Síndrome ROHHAD (obesidad de rápida progresión, disfunción hipotalámica, hipoventilación y disregulación autonómica). Presentación de un caso y revisión de la literatura / Rapid-onset obesity with hypothalamic dysregulation, hypoventilation, and autonomic dysregulation (ROHHAD syndrome): A case report and literature review

Introducción: El síndrome obesidad de rápida progresión, disfunción hipotalámica, hipoventilación alveolar y disregulación autonómica (ROHHAD) es una entidad infrecuente y compleja con comienzo en niños sanos a los 2-4 años, donde además un 40% se relaciona con tumores de la cresta neural. Desarrollo: Presentamos el caso de una niña que comenzó a los 2 años con un cuadro de obesidad de rápida progresión y posteriormente asoció disfunción hipotalámica con trastornos electrolíticos graves, trastorno de conducta, hipoventilación y disautonomía graves, entre otros. Aunque su fisiopatología no está aclarada, una de las hipótesis actuales del ROHHAD es autoinmune y, tras respuesta limitada a inmunoglobulinas por vía intravenosa, se decidió probar respuesta a ciclofosfamida a dosis altas (a dosis bajas tampoco fue eficaz). Esto motivó múltiples complicaciones graves posteriores que requirieron estancia prolongada en la UCI (a destacar mielinólisis central pontina recuperada e imposibilidad de destete del respirador, requiriendo traqueotomía para continuar asistencia respiratoria). Aunque la conducta mejoró, el desenlace fue fatal a los 5 años debido a un episodio de muerte súbita en domicilio por su patología respiratoria. Conclusiones: Se trata de una patología poco conocida que precisa un abordaje multidisciplinar, dada la complejidad de los síntomas y su implicación multisistémica. Es necesario identificar precozmente la hipoventilación alveolar y el inicio de tratamiento adecuado por su implicación pronóstica. La experiencia con inmunomoduladores como inmunoglobulinas, ciclofosfamida o rituximab muestra una mejoría de los síntomas en algunos casos. Sería deseable realizar estudios multicéntricos, dada la baja incidencia del síndrome, para esclarecer su fisiopatología y diseñar su adecuado abordaje terapéutico (AU)

Introduction: ROHHAD syndrome (rapid-onset obesity with hypothalamic dysregulation, hypoventilation, and autonomic dysregulation) is a rare and complex disease, presenting in previously healthy children at the age of 2-4 years. Up to 40% of cases are associated with neural crest tumours. Development: We present the case of a 2-year-old girl with symptoms of rapidly progressing obesity, who a few months later developed hypothalamic dysfunction with severe electrolyte imbalance, behaviour disorder, hypoventilation, and severe autonomic dysregulation, among other symptoms. Although the pathophysiology of this syndrome remains unclear, an autoimmune hypothesis has been proposed for ROHHAD. Therefore, after obtaining a limited response to intravenous immunoglobulins, we decided to test the response to a high dose cyclophosphamide (low dose was not effective either). Unfortunately our patient experienced many severe complications (among them central pontine myelinolysis, from which the patient recovered, and failure to wean from the ventilator requiring tracheostomy and long term ventilation) that required a prolonged ICU stay. Although her behaviour improved, our patient unfortunately died suddenly at home at the age of 5 due to respiratory pathology. Conclusions: ROHHAD syndrome is a rare and little-known disease which requires a multidisciplinary approach because it involves complex symptoms and multiple organ system involvement. Alveolar hypoventilation should be identified early and appropriate treatment should be started promptly for the best possible outcome. Immunomodulatory treatment with immunoglobulins, cyclophosphamide, or rituximab has previously resulted in symptom improvement in some cases. Because of the low incidence of the syndrome, multi-centre studies must be carried out in order to gather more accurate information about ROHHAD pathophysiology and design an appropriate therapeutic approach (AU)

Rapid-onset obesity with hypothalamic dysregulation, hypoventilation, and autonomic dysregulation (ROHHAD syndrome): A case report and literature review. / Síndrome ROHHAD (obesidad de rápida progresión, disfunción hipotalámica, hipoventilación y disregulación autonómica). Presentación de un caso y revisión de la literatura.

INTRODUCTION: ROHHAD syndrome (rapid-onset obesity with hypothalamic dysregulation, hypoventilation, and autonomic dysregulation) is a rare and complex disease, presenting in previously healthy children at the age of 2-4 years. Up to 40% of cases are associated with neural crest tumours. DEVELOPMENT: We present the case of a 2-year-old girl with symptoms of rapidly progressing obesity, who a few months later developed hypothalamic dysfunction with severe electrolyte imbalance, behaviour disorder, hypoventilation, and severe autonomic dysregulation, among other symptoms. Although the pathophysiology of this syndrome remains unclear, an autoimmune hypothesis has been proposed for ROHHAD. Therefore, after obtaining a limited response to intravenous immunoglobulins, we decided to test the response to a high dose cyclophosphamide (low dose was not effective either). Unfortunately our patient experienced many severe complications (among them central pontine myelinolysis, from which the patient recovered, and failure to wean from the ventilator requiring tracheostomy and long term ventilation) that required a prolonged ICU stay. Although her behaviour improved, our patient unfortunately died suddenly at home at the age of 5 due to respiratory pathology. CONCLUSIONS: ROHHAD syndrome is a rare and little-known disease which requires a multidisciplinary approach because it involves complex symptoms and multiple organ system involvement. Alveolar hypoventilation should be identified early and appropriate treatment should be started promptly for the best possible outcome. Immunomodulatory treatment with immunoglobulins, cyclophosphamide, or rituximab has previously resulted in symptom improvement in some cases. Because of the low incidence of the syndrome, multi-centre studies must be carried out in order to gather more accurate information about ROHHAD pathophysiology and design an appropriate therapeutic approach.

Cerebrospinal fluid synaptic proteins as useful biomarkers in tyrosine hydroxylase deficiency.

Tyrosine hydroxylase (TH) deficiency is an inborn error of dopamine biosynthesis and a cause of early parkinsonism. Two clinical phenotypes have been described. Type "B": early onset severe encephalopathy; type "A": later onset, less severe and better response to L-dopa. We aimed to study the expression of several key dopaminergic and gabaergic synaptic proteins in the cerebrospinal fluid (CSF) of a series of patients with TH deficiency and their possible relation with the clinical phenotype and response to L-DOPA. Dopamine transporter (DAT), D2-receptor and vesicular monoamine transporter (VMAT2) were measured in the CSF of 10 subjects with TH deficiency by Western blot analysis. In 3 patients, data of pre- and post-treatment with L-DOPA were available, and in one of them, GABA vesicular transporter was determined. Results were compared to an age-matched control population. The concentration of D2-receptors in CSF was significantly higher in patients with TH deficiency than in controls. Similarly, DAT and vesicular monoamine transporter type 2 were up-regulated. Studies performed before L-DOPA, and on L-DOPA therapy showed a paradoxical response with D2 receptor expression increase as L-Dopa doses and homovanillic concentration gradually raised in a B phenotype patient. The opposite results were found in two patients with A phenotype. However, this is a very small sample, and further studies are needed to conclude robust differences between phenotypes. Synaptic proteins are detectable in the CSF and their quantification can be useful for understanding the pathophysiology of neurotransmitter defects and potentially to adjust and personalize treatments in the future.

[Complex febrile crises: should we change the way we act?]. / Crisis febriles complejas: debemos cambiar nuestro modo de actuacion?

INTRODUCTION: Febrile seizures are one of the most frequent reasons why patients visit the healthcare specialist. Up until now, patients with complex febrile seizures (CFS) have been hospitalised, bearing in mind the higher percentages of epilepsy and acute complications that were classically reported. Today there are studies that back the idea of being less invasive in the management of these patients. AIMS. To describe the characteristics of patients hospitalised due to CFS and to propose a new protocol to be followed in dealing with such cases. PATIENTS AND METHODS: The medical records of patients hospitalised because of CFS (January 2010-December 2013) were analysed retrospectively. Epidemiological and clinical data are presented, together with information from complementary tests and about development. RESULTS: CFS account for 4.2% of all neuropaediatric cases of admittance to hospital in (67 patients). Mean age at the time of the event: 25 months. A pathological family history existed in 47% of cases, and 31% had a previous personal history of febrile seizures. The CFS lasted less than five minutes in 54% of patients; there were also recurrences, most of them with a total of two crises and during the first day (CFS due to recurrence are the most frequent). None of the complementary tests that were carried out were of any use as a diagnostic aid during the acute phase. During their follow-up, five patients presented complications. Patients with a family history of febrile seizures presented a higher risk of epilepsy or recurrence (p = 0.02), with no significant differences as regards age, number of seizures, febrile interval, epileptic status or type of CFS. CONCLUSIONS: The CFS are not associated with greater acute complications, and the complementary examinations do not allow high-risk patients to be distinguished at an early stage. Hospitalising them could be avoided in the absence of other clinical signs and symptoms, and thus be limited to selected cases.

TITLE: Crisis febriles complejas: debemos cambiar nuestro modo de actuacion?Introduccion. Las convulsiones febriles son una de las causas mas frecuentes de consulta. Hasta ahora, los pacientes con convulsiones febriles complejas (CFC) deben ingresar, dado el mayor porcentaje de epilepsia y complicaciones agudas descrito clasicamente. En la actualidad hay estudios que apoyan ser menos invasivos en el abordaje de estos pacientes. Objetivo. Describir las caracteristicas de los pacientes ingresados por CFC y proponer un nuevo protocolo de actuacion. Pacientes y metodos. Analisis retrospectivo de historias clinicas de ingresados por CFC (enero de 2010-diciembre de 2013). Se ofrecen datos epidemiologicos, clinicos, pruebas complementarias y evolucion. Resultados. Las CFC suponian un 4,2% de los ingresos de neuropediatria (n = 67). Edad media al evento: 25 meses. El 47% tenia antecedentes familiares patologicos, y el 31%, antecedentes personales de convulsion febril previa. En el 54% de los pacientes, la CFC duro menos de cinco minutos; hubo recurrencia, la mayoria con un total de dos crisis y durante el primer dia (las CFC por recurrencia son las mas frecuentes). De las pruebas complementarias realizadas, ninguna de ellas sirvio como apoyo diagnostico en el momento agudo. Durante su seguimiento, cinco pacientes presentaron complicaciones. Los pacientes con antecedentes familiares de convulsiones febriles presentan mayor riesgo de epilepsia o recurrencia (p = 0,02), sin diferencias significativas respecto a la edad, numero de crisis, intervalo de fiebre, estado epileptico o tipo de CFC. Conclusiones. Las CFC no asocian mayores complicaciones agudas; las exploraciones complementarias no permiten discriminar precozmente a los pacientes de riesgo. Su ingreso podria evitarse en ausencia de otros signos clinicos y limitarse a casos seleccionados.

[Review of 22 patients with 22q11.2 deletion syndrome: phenotype spectrum]. / Revisión de 22 casos de deleción 22q11.2: espectro fenotípico.

INTRODUCTION: The 22q11.2 deletion syndrome is a contiguous gene deletion syndrome with an incidence rate of 1/4,000-6,000 live births. The most specific clinical features are: congenital conotruncal heart diseases, palate anomalies, hypocalcaemia, immunity and learning problems, and a characteristic facial phenotype. The objective of this work is to review the presenting phenotype and clinical features of children with 22q11.2 deletion syndrome as a guide for early diagnosis. PATIENTS AND METHODS: Retrospective study of 22 patients with 22q11.2 deletion syndrome diagnosed at our hospital in the time period 2004-2007. Variables analyzed: incidence, sex, age at diagnosis, presenting phenotype, clinical features, positive family history, mortality and natural history. RESULTS: From a total of 22 patients, 63 % were males, and the median age at diagnosis was of 4.5 years. Presenting pheno-type: congenital heart disease, milestones delay, velopharyngeal incompetence, hypocalcaemia, and mental retardation/psychiatric disturbances. CLINICAL FEATURES: congenital heart disease (84 %), velopharyngeal incompetence (47 %), milestones delay and learning disabilities (79 %). All of the deletions were de novo, except in one case where the deletion was present as mosaicism in the father. Three patients died, due to congenital heart disease. CONCLUSIONS: Clinical expression is widely variable, although a characteristic phenotype exists. Patients with heart disease are diagnosed earlier than other patients with unusual presenting phenotype such as congenital dysphagia. It is important to recognize less common phenotypes at early ages in order to provide multidisciplinary monitoring and accurate genetic counselling.

Revisión de 22 casos de deleción 22q11.2: espectro fenotípico / Review of 22 patients with 22q11.2 deletion syndrome: phenotype spectrum

Introducción: El síndrome de deleción 22q11.2 es un síndrome de genes contiguos con una incidencia de un caso por cada 4.000-6.000 recién nacidos. Posee una amplia variabilidad clínica y sus características clínicas más frecuentes son cardiopatía conotruncal, anomalías palatinas, hipocalcemia, problemas de inmunidad y de aprendizaje, y un fenotipo facial característico. El objetivo de este estudio es revisar las formas de presentación y las manifestaciones clínicas de los niños con deleción 22q11.2 como guía para su diagnóstico precoz. Pacientes y métodos: Estudio retrospectivo de 22 casos de deleción 22q11.2 diagnosticados en nuestro hospital entre los años 2004 y 2007, en que se analizan las siguientes variables: incidencia, sexo, edad en el momento del diagnóstico, forma de presentación, características clínicas, antecedentes familiares, mortalidad y evolución. Resultados: De los 22 pacientes, el 63 % fueron varones y la edad media en el momento de realizar el diagnóstico fue de 4,5 años. Las formas de presentación fueron cardiopatía, retraso psicomotor, insuficiencia velopalatina, hipocalcemia y retraso mental o alteraciones psiquiátricas. Las principales manifestaciones clínicas fueron cardiopatía (84 %), insuficiencia velopalatina (47 %), retraso psicomotor y problemas de aprendizaje (79 %). Todos los casos fueron deleciones de novo, salvo un caso en el que se identificó la deleción "en mosaico" en el padre. Fallecieron 3 pacientes a causa de cardiopatía. Conclusiones: La expresión clínica es muy variable, aunque existe un fenotipo característico. Los niños con cardiopatía conotruncal son diagnosticados más tempranamente, pero en otras formas de presentación, como la disfagia congénita, el diagnóstico se retrasa más. Es necesario tener en cuenta las formas de presentación menos habituales para identificar en edades tempranas a estos pacientes y proporcionarles una atención multidisciplinaria temprana y un asesoramiento genético familiar adecuado (AU)

Introduction: The 22q11.2 deletion syndrome is a contiguous gene deletion syndrome with an incidence rate of 1/4,000-6,000 live births. The most specific clinical features are: congenital conotruncal heart diseases, palate anomalies, hypocalcaemia, immunity and learning problems, and a characteristic facial phenotype. The objective of this work is to review the presenting phenotype and clinical features of children with 22q11.2 deletion syndrome as a guide for early diagnosis. Patients and methods: Retrospective study of 22 patients with 22q11.2 deletion syndrome diagnosed at our hospital in the time period 2004-2007. Variables analyzed: incidence, sex, age at diagnosis, presenting phenotype, clinical features, positive family history, mortality and natural history. Results: From a total of 22 patients, 63 % were males, and the median age at diagnosis was of 4.5 years. Presenting pheno-type: congenital heart disease, milestones delay, velopharyngeal incompetence, hypocalcaemia, and mental retardation/psychiatric disturbances. Clinical features: congenital heart disease (84 %), velopharyngeal incompetence (47 %), milestones delay and learning disabilities (79 %). All of the deletions were de novo, except in one case where the deletion was present as mosaicism in the father. Three patients died, due to congenital heart disease. Conclusions: Clinical expression is widely variable, although a characteristic phenotype exists. Patients with heart disease are diagnosed earlier than other patients with unusual presenting phenotype such as congenital dysphagia. It is important to recognize less common phenotypes at early ages in order to provide multidisciplinary monitoring and accurate genetic counseling (AU)

[A descriptive study of neurocysticercosis in a tertiary care hospital]. / Estudio descriptivo de neurocisticercosis en un hospital terciario.

INTRODUCTION: Neurocysticercosis is the most frequent parasitic disease affecting the central nervous system. It is a disease that is endemic to certain countries in South America. The phenomenon of immigration, however, has increased its prevalence in developed regions due to the arrival of immigrants from endemic areas. AIM: To present the clinical and demographic characteristics of the cases of neurocysticercosis attended in a tertiary care hospital in the city of Murcia. PATIENTS AND METHODS: We conducted a descriptive, retrospective study by reviewing the medical records of patients with a hospital diagnosis of neurocysticercosis over a nine-year period (1997-2005). Demographic and clinical data on these patients were collected. RESULTS: Twenty-three patients (three under 12 years of age) were found. Mean age: 29.6 years. Countries of origin: Ecuador and Bolivia. The most frequently observed clinical manifestations were: epileptic seizures (73.9%), headache (39.1%) and neurological focus (26.1%). Albendazole was employed in 91.3% of cases and corticoids in 73.9%. The most frequently used drug in patients who received antiepileptic therapy was phenytoin. Four patients required surgical treatment. During the follow-up period, 52.8% of the patients were asymptomatic. CONCLUSIONS: Neurocysticercosis is a disease that is becoming increasingly more prevalent in Spain and we should suspect its presence in patients from endemic areas who visit because of clinical symptoms involving the central nervous system.

Estudio descriptivo de neurocisticercosis en un hospital terciario / A descriptive study of neurocysticercosis in a tertiary care hospital

La neurocisticercosis es la enfermedad parasitaria más frecuente del sistema nervioso central. Setrata de una enfermedad endémica de ciertos países de Sudamérica. Sin embargo, debido al fenómeno de la inmigración, ha aumentado su prevalencia en zonas desarrolladas debido a la llegada de inmigrantes procedentes de áreas endémicas. Objetivo.Presentar las características clínicas y demográficas de los casos de neurocisticercosis atendidos en un hospital terciario de la ciudad de Murcia. Pacientes y métodos. Estudio descriptivo, retrospectivo mediante revisión de historias clínicas de pacientes con diagnóstico hospitalario de neurocisticercosis en un período de nueve años (1997-2005). Se recogen los datosdemográficos y clínicos de estos pacientes. Resultados. Se estudiaron 23 pacientes (tres menores de 12 años). Edad media: 29,6 años. Países de origen: Ecuador y Bolivia. Las manifestaciones clínicas más frecuentes fueron: crisis epilépticas (73,9%),cefalea (39,1%) y focalidad neurológica (26,1%). Se utilizó albendazol en el 91,3% de los casos y corticoides en el 73,9%. De los pacientes que recibieron tratamiento antiepiléptico, el fármaco más utilizado fue la fenitoína. cuatro pacientes precisarontratamiento quirúrgico. En el período de seguimiento estaban asintomáticos el 52,8% de los pacientes. Conclusiones. La neurocisticercosis es una enfermedad cada vez más prevalente en España y que debemos sospechar en pacientes procedentes de zonasendémicas que consulten por clínica de afectación del sistema nervioso central

Neurocysticercosis is the most frequent parasitic disease affecting the central nervous system. It is adisease that is endemic to certain countries in South America. The phenomenon of immigration, however, has increased its prevalence in developed regions due to the arrival of immigrants from endemic areas. Aim. To present the clinical and demographic characteristics of the cases of neurocysticercosis attended in a tertiary care hospital in the city of Murcia.Patients and methods. We conducted a descriptive, retrospective study by reviewing the medical records of patients with a hospital diagnosis of neurocysticercosis over a nine-year period (1997-2005). Demographic and clinical data on these patients were collected. Results. Twenty-three patients (three under 12 years of age) were found. Mean age: 29.6 years. Countries of origin: Ecuador and Bolivia. The most frequently observed clinical manifestations were: epileptic seizures(73.9%), headache (39.1%) and neurological focus (26.1%). Albendazole was employed in 91.3% of cases and corticoids in 73.9%. The most frequently used drug in patients who received antiepileptic therapy was phenytoin. Four patients requiredsurgical treatment. During the follow-up period, 52.8% of the patients were asymptomatic. Conclusions. Neurocysticercosis is a disease that is becoming increasingly more prevalent in Spain and we should suspect its presence in patients from endemicareas who visit because of clinical symptoms involving the central nervous system

[Protocol guiding the procedure to be followed when faced with a suspected metabolic encephalopathy in infancy]. / Protocolo de actuación ante la sospecha de una encefalopatía metabólica en la infancia.

INTRODUCTION: Advances in the diagnosis and treatment of inborn errors of metabolism (IEM) have aroused renewed interest in these diseases in recent years. The vast degree of complexity involved in this pathology requires a great amount of effort in its diagnosis and, on many occasions, the need to resort to complex complementary examinations that can only be performed in specialised reference centres. AIMS. To review and outline the clinical features and diagnostic methods by drawing up a protocol to be followed in an attempt to offer care to these patients. Development and conclusions. We propose a diagnostic schema divided into three levels: the first level is based on the patient record, age at onset, and the signs and symptoms, which will enable us to establish the clinical suspicion of the type of IEM. On the second diagnostic level, the foregoing information is taken into account in order to decide whether it is advisable to carry out certain basal confirmatory tests in order to establish groups of biochemical patterns that allow us to get closer to an aetiological diagnosis. We believe that these basal tests should be available in most hospitals. A third level refers to employing specific diagnostic methods which are frequently carried out in reference centres. We also review metabolic encephalopathies that are associated to epilepsy and psychomotor or mental retardation due to their being the most common reasons for visits related to IEM in Neuropaediatric units.

Eficacia y tolerabilidad del levetiracetam en 133 niños con crisis epilépticas farmacorresistentes / Effectiveness and safety of levetiracetam in 133 children with medication resistant epileptic seizures

Introducción. El levetiracetam (LEV) es el último fármacoaprobado en la Unión Europea para su utilización en politerapiaen niños mayores de 4 años con crisis epilépticas parciales rebeldesa otros antiepilépticos. Objetivo. Referir nuestra experienciaal asociar LEV en niños con crisis epilépticas farmacorresistentes.Pacientes y métodos. Estudio abierto, observacional, retrospectivo,de 133 niños con epilepsias refractarias, 106 con crisis focalesy 27 con otros tipos de crisis, asociando LEV durante más de6 meses, valorando su repercusión en la frecuencia de crisis y losefectos secundarios relacionados con el fármaco. Resultados. Condosis medias de LEV de 1.192 ±749 mg/día se ha reducido más deun 50% la frecuencia de las crisis en el 58,6% de los casos y se hansuprimido las crisis en el 15,8% de los pacientes. Se han producidoefectos adversos en el 27,8% de los casos, habitualmente transitorioso tolerables; estos efectos motivaron la supresión del LEVsólo en ocho casos (6,02%). En 37 niños (27,8%) los familiaresapreciaron una mejoría de la conducta social y de las habilidadescognitivas. Conclusiones. a) El LEV es un fármaco eficaz y bien toleradoen niños con epilepsias refractarias; b) Su eficacia en diversostipos de crisis denota un espectro terapéutico amplio; y c) ElLEV puede incluso condicionar efectos secundarios favorables,circunstancia referida excepcionalmente en otros antiepilépticos

Introduction. Levetiracetam (LEV) is the latest drug approved in the European Union for use in polytherapy in childrenover 4 years of age with partial epileptic seizures that are resistant to other antiepileptic drugs. Aim. To report our experience ofassociating LEV in children with medication resistant epileptic seizures. Patients and methods. We conducted an open,observational, respective study involving 133 children with refractory epilepsies: 106 with focal seizures and 27 with other typesof seizures. LEV was associated over a period of more than 6 months and we evaluated its repercussion on the frequency of theseizures and the side effects related to the drug. Results. With average doses of LEV of 1,192 ± 749 mg/day the frequency ofthe seizures was reduced by over 50% in 58.6% of cases and seizures were quelled in 15.8% of patients. Side effects were producedin 27.8% of cases, and were usually transient or tolerable; these effects led to withdrawal of LEV in only eight cases (6.02%). In37 children (27.8%), their relatives noted an improvement in their social behaviour and cognitive abilities. Conclusions. a) LEVis an effective drug that is well tolerated in children with refractory epilepsy; b) Its effectiveness in different types of seizuresindicates a broad therapeutic spectrum; and c) LEV can even condition favourable secondary effects, a circumstance that hasbeen reported only exceptionally in the case of other antiepileptic drugs

Protocolo de actuación ante la sospecha de una encefalopatía metabólica en la infancia / Protocol guiding the procedure to be followed when faced with a suspected metabolic encephalopathy in infancy

Introducción. Los avances en el diagnóstico y el tratamientode los errores congénitos del metabolismo (ECM) han reavivadoel interés por estas enfermedades en los últimos años. Laenorme complejidad de esta patología supone un gran esfuerzo enel diagnóstico y la necesidad de recurrir, en muchas ocasiones, aexámenes complementarios complejos que sólo se realizan en centrosde referencia especializados. Objetivo. Revisar y exponer laclínica y los métodos de diagnóstico mediante la elaboración de unprotocolo de actuación para intentar facilitar la asistencia a estospacientes. Desarrollo y conclusiones. Proponemos un esquema diagnósticoen tres niveles: un primer nivel basado en la historia clínica,la edad de presentación, los signos y los síntomas, con el queestableceremos la sospecha clínica del tipo de ECM. Un segundonivel diagnóstico en el que, teniendo en cuenta los datos obtenidospreviamente, se valorará la realización de unos tests confirmatoriosbasales para establecer grupos de patrones bioquímicos que nosacercan más al diagnóstico etiológico. Pensamos que estas pruebasbasales deberían estar disponibles en la mayoría de los hospitales.Un tercer nivel se refiere a la realización de métodos diagnósticosespecíficos y que habitualmente se llevan a cabo en centros de referencia.Revisamos también aquellas encefalopatías metabólicasasociadas a epilepsia y retraso psicomotor o mental por ser losmotivos de consulta más frecuentes asociados a ECM en Neuropediatría

Introduction. Advances in the diagnosis and treatment of inborn errors of metabolism (IEM) have aroused renewedinterest in these diseases in recent years. The vast degree of complexity involved in this pathology requires a great amount ofeffort in its diagnosis and, on many occasions, the need to resort to complex complementary examinations that can only beperformed in specialised reference centres. Aims. To review and outline the clinical features and diagnostic methods bydrawing up a protocol to be followed in an attempt to offer care to these patients. Development and conclusions. We proposea diagnostic schema divided into three levels: the first level is based on the patient record, age at onset, and the signs andsymptoms, which will enable us to establish the clinical suspicion of the type of IEM. On the second diagnostic level, theforegoing information is taken into account in order to decide whether it is advisable to carry out certain basal confirmatorytests in order to establish groups of biochemical patterns that allow us to get closer to an aetiological diagnosis. We believethat these basal tests should be available in most hospitals. A third level refers to employing specific diagnostic methods whichare frequently carried out in reference centres. We also review metabolic encephalopathies that are associated to epilepsy andpsychomotor or mental retardation due to their being the most common reasons for visits related to IEM in Neuropaediatricunits

[Effectiveness and safety of levetiracetam in 133 children with medication resistant epileptic seizures]. / Eficacia y tolerabilidad del levetiracetam en 133 niños con crisis epilépticas farmacorresistentes.

INTRODUCTION: Levetiracetam (LEV) is the latest drug approved in the European Union for use in polytherapy in children over 4 years of age with partial epileptic seizures that are resistant to other antiepileptic drugs. AIM. To report our experience of associating LEV in children with medication resistant epileptic seizures. PATIENTS AND METHODS: We conducted an open, observational, respective study involving 133 children with refractory epilepsies: 106 with focal seizures and 27 with other types of seizures. LEV was associated over a period of more than 6 months and we evaluated its repercussion on the frequency of the seizures and the side effects related to the drug. RESULTS: With average doses of LEV of 1,192 +/- 749 mg/day the frequency of the seizures was reduced by over 50% in 58.6% of cases and seizures were quelled in 15.8% of patients. Side effects were produced in 27.8% of cases, and were usually transient or tolerable; these effects led to withdrawal of LEV in only eight cases (6.02%). In 37 children (27.8%), their relatives noted an improvement in their social behaviour and cognitive abilities. CONCLUSIONS: a) LEV is an effective drug that is well tolerated in children with refractory epilepsy; b) Its effectiveness in different types of seizures indicates a broad therapeutic spectrum; and c) LEV can even condition favourable secondary effects, a circumstance that has been reported only exceptionally in the case of other antiepileptic drugs.

[Nephrolithiasis and topiramate]. / Nefrolitiasis y topiramato.

INTRODUCTION: Topiramate (TPM) is a new antiepileptic drug whose multiple mechanisms of action justify both its broad therapeutic spectrum and its increasingly widespread use in childhood epilepsy. TPM acts as a carbonic anhydrase inhibitor and, although this does not affect its effectiveness as an antiepileptic, it does account for certain side effects such as nephrolithiasis. The frequency of nephrolithiasis secondary to TPM in childhood is unknown and we have only found reports of five cases in children. CASE REPORTS: We describe two cases of medication-resistant infantile epilepsy--a 3-year-old female with Dravet's syndrome and a male aged 4.5 years with Lennox-Gastaut syndrome. In both cases the decision was made to introduce TPM as add-on therapy after a prolonged therapeutic programme; a high degree of effectiveness was achieved in both patients. Nevertheless, the two patients developed nephrolithiasis secondary to TPM, which in the second case was related to the simultaneous treatment with adrenocorticotropic hormone (ACTH), while no known favouring factor was found in the first patient. CONCLUSIONS: We outline the physiopathogenic mechanism explaining nephrolithiasis secondary to TPM, the risk factors involved and the therapeutic and preventive options available in dealing with this side effect, which occurs in a low percentage of cases but which usually means stopping administration of this therapy. We therefore believe it necessary to analyse the risk factors for nephrolithiasis before prescribing the drug and we suggest that generalised preventive measures should be implemented, especially in children who are carriers of encephalopathies or conditions that reduce mobility.