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

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)

[Severe fetal anemia and neonatal epileptic encephalopathy caused by a novel PNPO mutation]. / Anemia fetal grave y encefalopatia epileptica neonatal causada por una nueva mutacion en el gen PNPO.

TITLE: Anemia fetal grave y encefalopatia epileptica neonatal causada por una nueva mutacion en el gen PNPO.

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.

[Syringomyelias in paediatrics: a retrospective study of 25 cases]. / Siringomielias en pediatria: estudio retrospectivo de 25 casos.

INTRODUCTION: Syringomyelia is defined as a cavity containing cerebrospinal fluid inside the spinal cord. AIM: To describe the clinical characteristics of a series of patients with syringomyelia, as well as its diagnosis and treatment. PATIENTS AND METHODS: We conducted a retrospective descriptive study by reviewing the medical records at our centre. RESULTS: We reviewed 25 patients diagnosed with syringomyelia. In five cases, the diagnosis was reached casually, and eight of them presented a previous severe pathology (tumour, bone or vascular). Two patients began with hydrocephalus and clinical signs and symptoms of intracranial hypertension and just two of them reported headaches as the only symptom. Four presented progressive scoliosis, two of them as the initial complaint, and required surgery with arthrodesis and the use of a corset, respectively. A notable feature was the earliness of the diagnosis. Most of them only presented a slight loss of strength, with normal somatosensory potentials and electromyogram. Check-ups were carried out with magnetic resonance. Eight patients required a decompressive craniectomy with posterior C1-C2 laminectomy, with drainage of the syringomyelic cavity in four cases. Nine of them required a bypass valve and a ventriculostomy also had to be performed in two of them. CONCLUSIONS: The presence of syringomyelia is rare in paediatric patients, and is generally associated with malformations in the posterior fossa and a medical history of spinal dysrhaphism. Progressive scoliosis stands out as a possible isolated manifestation. A multidisciplinary approach with regular radiological check-ups and evaluation by paediatric neurology and neurosurgery services are mandatory for its follow-up.

TITLE: Siringomielias en pediatria: estudio retrospectivo de 25 casos.Introduccion. Se define siringomielia como una cavidad que contiene liquido cefalorraquideo dispuesta en el interior de la medula espinal. Objetivo. Describir las caracteristicas clinicas de una serie de pacientes con siringomielia, su diagnostico y tratamiento. Pacientes y metodos. Estudio descriptivo retrospectivo realizado mediante la revision de historias clinicas en nuestro centro. Resultados. Se revisaron 25 pacientes diagnosticados de siringomielia. En cinco el diagnostico fue casual y ocho presentaban una patologia grave previa (tumoral, osea o vascular). Dos pacientes comenzaron con hidrocefalia y clinica de hipertension intracraneal y unicamente dos destacaban cefalea como unico sintoma. Cuatro presentaron escoliosis progresiva, dos de ellos como queja inicial, y precisaron cirugia con artrodesis y uso de corse, respectivamente. Destaca la precocidad del diagnostico. La mayoria presentaba unicamente perdida de fuerza leve, con potenciales somatosensoriales y electromiograma normales. En todos se hicieron controles con resonancia magnetica. Ocho pacientes precisaron craniectomia descompresiva con laminectomia posterior C1-C2, con drenaje de la cavidad siringomielica en cuatro. Nueve requirieron valvula de derivacion y dos precisaron, ademas, ventriculostomia. Conclusiones. La presencia de siringomielia en pediatria es rara, y se asocia generalmente a malformaciones en la fosa posterior y antecedentes de disrafismo espinal. Destaca la escoliosis progresiva como posible manifestacion aislada. Un abordaje multidisciplinar con controles radiologicos seriados y la valoracion por servicios de neurologia y neurocirugia pediatricos son mandatorios para su seguimiento.

Conocimiento, actitud e información recibida sobre el programa de cribado neonatal por parte de los padres de un hospital general en España: ¿hay margen para la mejora? / Knowledge, attitude and information received on newborn screening programs of parents of neonates born in a Spanish general hospital: still room for improvement?

Objetivo: Aunque las tasas de cobertura en los programas de cribado neonatal se acercan al 100% en nuestra región, se sabe poco del nivel de conocimiento y la información recibida por los padres en este programa, aspecto esencial para asegurar un verdadero consentimiento informado. El objetivo de este estudio es determinar el grado de conocimiento, la actitud y la información recibida por los padres en nuestra área sanitaria, usando un cuestionario ad hoc. Resultados: La mayoría de los padres no conocen algunos aspectos esenciales sobre el programa de cribado endocrinometabóliconeonatal y dan el consentimiento sin un verdadero conocimiento sobre esta prueba. Conclusiones: Los diferentes niveles asistenciales deberían hacer un esfuerzo para incrementar la educación de los padres sobre el cribado neonatal (AU)

Objetive: Although coverage rates of newborn screening program approach to 100% in our region, little is known about parent's knowledge, attitude and information received on this program, essential for assuring a true informed consent. The aim of this study was to quantitatively assess the degree of knowledge, attitude and source of information on this program by parents of our health district using an ad hoc designed questionnaire. Results: Most parents do not know essentials aspects about newborn screening programs and give the informed consent without knowing the significance of the test. Conclusions: Different levels of care should make an extra effort to increase parental education on metabolic screening (AU)