[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.

[Transition from child to adult epilepsy. Difficulties with an objective that cannot be delayed]. / Transicion de la epilepsia del niño al adulto. Dificultades en un objetivo no demorable.

Paediatric care of a chronic process is limited by the moment when the clinical and therapeutic follow-up must be continued by a specialist from the area for adults. The delay in the transition from paediatrics to adult medicine can be due to causes attributable to the patient or his/her relatives, or the professional who diagnosed the disease. The former arises from the uncertainty of facing the unknown, which becomes more intense when the diagnosis and treatment have been difficult, as there is a fear of upsetting the stability of the patient. The latter concerns the paediatric specialist, who created ties of dependence with the patient due to the difficulties involved in the process, and perhaps even owing to a wish to avoid playing a less important role in it. Delaying the transition gives rise to problems that are detrimental for the child, because after adolescence there will still be a harmful dependence on the family and the paediatrician, which will delay the necessary knowledge of their own illness and of the limitations that can condition them. As a result this can prevent them from developing mechanisms for coming to terms with the reality of their own life situation. Later on, when it comes to taking the necessary step into adult medicine, immaturity appears, which increases the difficulties due to a lack of knowledge of both the disease and the tell-tale signs of alarm, revealing insecurity in the different situations that arise. The problem can be solved by a slow progressive change which must be coordinated in mixed outpatient departments with the presence of specialists for both paediatric and adult patients. This publication offers an analysis of this problem and a review of the solutions recommended to implement them in the best possible way.

TITLE: Transicion de la epilepsia del niño al adulto. Dificultades en un objetivo no demorable.La atencion pediatrica de un proceso cronico se ve limitada por el momento a partir del cual el seguimiento clinico y terapeutico debe continuarlo el especialista del area con dedicacion al adulto. El retraso de la transicion de la pediatria a la medicina del adulto puede originarse por causas familiares o del paciente, o bien por el profesional que diagnostico la enfermedad. La primera emana de la incertidumbre ante lo desconocido, mas intensa cuanto mayor ha sido la dificultad diagnostica y terapeutica, al temer que el paciente se desestabilice. La segunda atañe al especialista pediatrico, que creo lazos de dependencia con el paciente por las dificultades del proceso, e incluso por el deseo de no perder protagonismo en el mismo. Demorar la transicion genera problemas perjudiciales para el niño, pues superada la adolescencia mantendra una nociva dependencia familiar y del pediatra, retrasando el necesario conocimiento de la propia enfermedad y de las limitaciones que pueden condicionarle, e impidiendole desarrollar mecanismos para enfrentarse a su realidad vital. Mas adelante, cuando llega el necesario paso a la medicina del adulto, aflora la inmadurez, que incrementa las dificultades por desconocer tanto la enfermedad como los signos de alarma, revelando inseguridad en las situaciones que vayan apareciendo. El problema se soluciona con un cambio lento y progresivo, que debe coordinarse en consultas mixtas atendidas por especialistas pediatricos y de adultos. En esta publicacion se analiza esta problematica y se revisan las soluciones aconsejadas para su mejor desarrollo.

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.

Variantes clínicas de epilepsia rolándica y su implicación en el pronóstico / Rolandic epilepsy clinical variants and their influence on the prognosis

Introducción: La epilepsia benigna con puntas centro-temporales (EBPCT) es el síndrome epiléptico más frecuente de la infancia, tiene carácter edad-dependiente, elevada predisposición genética y curso benigno. El objetivo de este trabajo es describir el curso clínico y el pronóstico de 60 pacientes diagnosticados de EBPCT en nuestro centro. Pacientes y métodos: Revisión retrospectiva de los pacientes diagnosticados de EBPCT en un hospital universitario (1995-2009). Se dividieron en 2 grupos: a) pacientes que cumplían todos los criterios clásicos de EBPCT, y b) cumplían los criterios excepto uno (menos de 4 años; crisis en vigilia; alteraciones EEG no típicas).Resultados: Se seleccionó a 60 pacientes, 34 varones y 26 mujeres. Se incluyó a 31 pacientes en el grupo 1 y a 29 en el grupo 2. Edad media de inicio en el grupo 1: 7,45 años; grupo 2: 6,55 años. Se indicó tratamiento médico en 32,2% de pacientes del grupo 1, y en 41,3% del grupo 2. La evolución fue favorable en la mayoría: 58% en el grupo 1 y 62,1% en el 2 estaban libres de crisis tras un año. Edad media a la que desaparecieron: 8,54 años en el grupo 1 y 7,84 años en el grupo 2. No se encontraron diferencias estadísticamente significativas en ninguno de estos parámetros.Conclusiones: A diferencia de lo que algunos autores habían publicado, en este trabajo no se han identificado factores clínicos de mala evolución en pacientes con EBPCT, de modo que su diagnóstico se correlaciona con una evolución favorable y un excelente pronóstico neurológico (AU)

Introduction: Benign epilepsy with central-temporal spikes (BECTS) is the most common epileptic syndrome in childhood. It is an age-dependent, genetically determined and benign condition. The aim of this study is to describe the clinical course and prognosis in 60 patients with BECTS diagnosed in our hospital. Patients and methods: We made a retrospective review of patients diagnosed with BECTS in a University Hospital (1995-2009). They were divided into 2 groups: 1) Patients who met all BECTS classical criteria. 2) Patients who met all the criteria but one (less than 4 years; diurnal seizures; atypical EEG abnormalities). Results: A total of 60 patients, 34 males and 26 females were included, with 31 patients in group 1 and 29 in group 2. The mean age at onset in group 1: 7.45 years, group 2: 6.55 years. Medical treatment was indicated in 32.2% of patients in group 1 and 41.3% in group 2. The outcome was favourable in the majority: 58% in group 1 and 62.1% in group 2 were free of seizures after 1 year. Average age in which it disappeared: 8.54 years in group 1 and 7.84 years in group 2. There were no statistically significant differences in any of these parameters.Conclusions: Unlike that published by some authors, we have not identified any poor outcome factors in patients with BECTS in this study, meaning that an accurate diagnosis correlates with a good prognosis and excellent neurological outcome (AU)

[Rolandic epilepsy clinical variants and their influence on the prognosis]. / Variantes clínicas de epilepsia rolándica y su implicación en el pronóstico.

INTRODUCTION: Benign epilepsy with central-temporal spikes (BECTS) is the most common epileptic syndrome in childhood. It is an age-dependent, genetically determined and benign condition. The aim of this study is to describe the clinical course and prognosis in 60 patients with BECTS diagnosed in our hospital. PATIENTS AND METHODS: We made a retrospective review of patients diagnosed with BECTS in a University Hospital (1995-2009). They were divided into 2 groups: 1) Patients who met all BECTS classical criteria. 2) Patients who met all the criteria but one (less than 4 years; diurnal seizures; atypical EEG abnormalities). RESULTS: A total of 60 patients, 34 males and 26 females were included, with 31 patients in group 1 and 29 in group 2. The mean age at onset in group 1: 7.45 years, group 2: 6.55 years. Medical treatment was indicated in 32.2% of patients in group 1 and 41.3% in group 2. The outcome was favourable in the majority: 58% in group 1 and 62.1% in group 2 were free of seizures after 1 year. Average age in which it disappeared: 8.54 years in group 1 and 7.84 years in group 2. There were no statistically significant differences in any of these parameters. CONCLUSIONS: Unlike that published by some authors, we have not identified any poor outcome factors in patients with BECTS in this study, meaning that an accurate diagnosis correlates with a good prognosis and excellent neurological outcome.

Neurocisticercosis en la infancia: ¿tratar o no tratar? / Neurocysticercosis in childhood: to treat or not to treat?

La cisticercosis es la enfermedad parasitaria más frecuente de lSNC en humanos y la causa más frecuente de epilepsia adquirida en los países en desarrollo, además de un problema creciente en los países desarrollados debido a las corrientes migratorias procedentes de áreas endémicas. El tratamiento con praziquantel y albendazol, aunque inicialmente fue prometedor, ha sido cuestionado por numerosos autores debido a sus efectos secundarios y al hecho de que numerosos pacientes evolucionan favorablemente sin necesidad de tratamiento antiparasitario. Se han publicado numerosos estudios aleatorizados y controlados que apoyan el uso del tratamiento antiparasitario en pacientes con lesiones quísticas y en las captantes de contraste. En los pacientes con lesiones calcificadas exclusivamente no está indicado el tratamiento antiparasitario ni esteroideo. Sin embargo, la decisión de administrar antihelmínticos y/o corticoides no siempre es clara, debiendo individualizar su uso en los casos que no presenten una clara indicación (AU)

Cysticercosis is the most common human’s CNS (central nervous system) parasitic disease, and the most frequent cause of acquired epilepsy in developing countries. It is a growing problem in developed countries due to the influx of immigrants from endemic areas. Treatment with praziquantel and albendazole, although at the beginning it was initially promising, it has been questioned by many authors, because of its side effects, and because many of the patients progressed favourably without the need of any antiparasitic treatment. Many randomized controlled trials which support the use of the antiparasitic treatment in patients with cystic lesions and in contrast enhancing ones have been published. In patients exclusively with calcified lesions the antiparasitary or steroid treatment is not specified. However, the decision of administering anthelmintics and or corticoids is not always clear, having to individualize its use when appropriate in the cases where a clear symptom is not shown (AU)

Hallazgos radiológicos en la acidemia metilmalónica / Radiological findings in methylmalonic acidemia

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Dolor lumbar y de miembros inferiores con rechazo de la deambulación como modo de presentación de síndrome de Guillain-Barré / Low back and lower limb pain and refusal to walk as presenting features of Guillain-Barré syndrome

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Monosomía parcial 10p de novo / De novo partial monosomy 10p

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Atelectasia crónica maxilar: causa infrecuente de opacidad radiológica persistente / Chronic maxillary atelectasis: an uncommon cause of persistent radiological opacification

La atelectasia crónica maxilar (ACM) es una enfermedad poco frecuente, que se caracteriza por una disminución de volumen del seno maxilar con retracción de una o más de sus paredes. El mecanismo causal parece ser una hipoventilación del seno maxilar por obstrucción del complejo ostiomeatal, que crea presión negativa y retracción de las paredes del seno. Se presenta el caso de una niña de 14 años asintomática, que presentaba una imagen radiológica de opacidad en seno maxilar persistente a tratamiento. En la TC coronal se apreciaba una opacificación parcial del seno maxilar derecho, con desplazamiento lateral de la pared infundibular medial y retracción de la mucosa del meato medio, por lo que la paciente fue diagnosticada de ACM. El interés del caso radica en que se trata de una enfermedad poco conocida, que no debe confundirse con la sinusitis maxilar

Chronic maxillary atelectasis (CMA) is an infrequent entity characterized by a persistent decrease in maxillary sinus volume due to inward bowing of one or more antral walls. The cause of CMA is probably maxillary sinus hypoventilation secondary to ostiomeatal complex obstruction. This creates negative pressure, leading to thinning of the sinus walls. We report the case of a 14-year-old asymptomatic girl with an opacified maxillary sinus on radiology following unsuccessful antibiotic treatment. A coronal computed tomography scan showed partial right antral opacification, with a laterally malpositioned medial infundibular wall and fontanel retraction, and consequently CMA was diagnosed. The interest of this case lies in the infrequency of CMA and the need to distinguish it from maxillary sinusitis