Sleep disorders in children with epilepsy.

INTRODUCTION: Children with epilepsy present greater prevalence of sleep disorders than the general population. Their diagnosis is essential, since epilepsy and sleep disorders have a bidirectional relationship. OBJECTIVE: Determine the incidence of sleep disorders and poor sleep habits in children with epilepsy. METHODS: We conducted a cross-sectional study of patients under 18 years of age with epilepsy, assessing sleep disorders using the Spanish-language version of the Sleep Disturbance Scale for Children (SDSC), and sleep habits using an original questionnaire. RESULTS: The sample included 153 patients. Eighty-four percent of our sample presented some type of sleep alteration. The most frequent alterations were sleep-wake transition disorders (53%), sleep initiation and maintenance disorders (47.7%), and daytime sleepiness (44.4%). In 70% of cases, the patients' parents reported that their child "slept well," although sleep disorders were detected in up to 75.7% of these patients. Many patients had poor sleep habits, such as using electronic devices in bed (16.3%), requiring the presence of a family member to fall asleep (39%), or co-sleeping or sharing a room (23.5% and 30.5%, respectively). Those with generalised epilepsy, refractory epilepsy, nocturnal seizures, and intellectual disability were more likely to present sleep disorders. In contrast, poor sleep habits were frequent regardless of seizure characteristics. CONCLUSIONS: Sleep disorders and poor sleep habits are common in children with epilepsy. Their treatment can lead to an improvement in the quality of life of the patient and his/her family, as well as an improvement in the prognosis of epilepsy.

Opsoclonus-myoclonus syndrome: Clinical characteristics, therapeutic considerations, and prognostic factors in a Spanish paediatric cohort.

INTRODUCTION: Opsoclonus-myoclonus-ataxia syndrome is a rare neuroinflammatory disorder with onset during childhood; aetiology may be paraneoplastic, para-infectious, or idiopathic. No biomarkers have yet been identified, and diagnosis is clinical. Better cognitive prognosis appears to be related to early onset of immunomodulatory therapy. METHODS: We describe the epidemiological, clinical, therapeutic, and long-term prognostic characteristics of a cohort of 20 Spanish patients. RESULTS: The mean age of onset was 21 months (range, 2-59). Ataxia and opsoclonus were the most frequent symptoms both at disease onset and throughout disease progression. The mean time from onset to diagnosis was 1.1 months. Neuroblast lineage tumours were detected in 45% of patients; these were treated with surgical resection in 7 cases and chemotherapy in 2. Cerebrospinal fluid analysis revealed pleocytosis in 4 cases (25%) and neither antineuronal antibodies nor oligoclonal bands were detected in any patient. Immunomodulatory drugs were used in all cases. Nine patients started combined immunomodulatory treatment at the time of diagnosis, and 5 patients after a mean of 2.2 months. In the long term, 6 of the 10 patients followed up for more than 5 years presented mild or moderate cognitive sequelae. Four patients presented relapses, generally coinciding with the decrease of corticosteroid doses. CONCLUSIONS: Early initiation of immunotherapy, as well as triple combination therapy, where needed, was associated with a lower frequency of cognitive impairment 2 years after onset.

[Implementation of a pediatric unit of acquired brain injury in subacute phase in the public health system. Epidemiological, clinical and initial evolution characteristics of the patients attended]. / Implantación de una unidad pediátrica de daño cerebral adquirido en fase subaguda en el sistema público de salud. Características epidemiológicas, clínicas y de evolución inicial de los pacientes atendidos.

INTRODUCTION: Acquired brain injury (ABI) is defined as a neurological injury, acutely occurred, at some point in life causing impairment or loss of functional capacity. In 2019, a specific document was created by the Ombudsman pointing out the relevance of attention to this entity in the pediatric age. PATIENTS AND METHOD: The process of creation and the casuistry of care of one of the first comprehensive care units for subacute ACD in pediatric age within the public health system is presented. RESULTS: Different clinical guidelines have been prepared on the admission and care process within the unit, both for patients and their relatives. Twenty-four patients ≤18 years old, admitted to the subacute phase ACD unit from November 2019 to July 2021, 12 coming from the Community of Madrid, were attended. The median age was 6.97 years. Traumatic mechanism was the most frequent, with iatrogenic causes predominating, followed by precipitation and vehicle-related accidents. On admission to the unit, 8 maintained a minimally conscious/vegetative state. The collaboration of up to 14 different specialists was required due to the complexity of the patients. The overall evolution was favorable in 23 cases, with sequelae in all of them. CONCLUSION: The creation of units specialized in pediatric ACD care with specific action protocols and coordinated trans- and multidisciplinary work is of vital importance.

Peripheral facial nerve palsy in children during the COVID-19 pandemic. / Parálisis facial periférica en población pediátrica durante la pandemia de la COVID-19.

OBJECTIVES: During the COVID-19 pandemic, an increased frequency of peripheral facial nerve palsy has been described in adults and children. The etiology of the disease during this time remains unclear, since most cases occurred in patients who tested negative for SARS-CoV-2 infection. PATIENTS AND METHODS: Retrospective study of pediatric cases of facial nerve palsy treated during the first year of the pandemic in the emergency department of a children´s hospital located in one of the areas with the highest prevalence of COVID-19 in Spain. Data from this period are compared with cases from the previous three years. RESULTS: Twenty-nine patients with Bell's palsy were included. Over the previous three years combined, 24 patients presented with the same condition, a more than threefold increase. No clinical differences were found between the groups apart from the fact that fewer patients received corticosteroids during the pandemic (13.8% vs 41.6%; p = 0.022). Fourteen children underwent microbiologic testing for active SARS-CoV-2 infection (12 polymerase chain reaction, two rapid antigen test); all were negative. Thirteen patients received serologic testing, two with a positive IgG (15.3%). CONCLUSION: A substantial increase in hospital presentations for facial nerve palsy was observed among children and adolescents during the first year of the pandemic, though findings of microbiologic testing cannot confirm a direct link with SARS-CoV-2 infection in most cases. Patient characteristics did not change between the two time periods. Difficulty accessing primary-care facilities during the pandemic in Spain may have played a role in this increase.

TITLE: Parálisis facial periférica en población pediátrica durante la pandemia de la COVID-19.Objetivos. Durante la pandemia de la COVID-19 se ha descrito una mayor frecuencia de parálisis facial periférica en adultos y niños. La etiología no está clara, ya que la mayoría de los casos ocurrió en pacientes negativos en las pruebas microbiológicas para confirmar infección por el SARS-CoV-2. Pacientes y métodos. Es un estudio retrospectivo de casos pediátricos de parálisis facial periférica atendidos el primer año de la pandemia en el servicio de urgencias de un hospital pediátrico ubicado en una de las zonas con mayor prevalencia de COVID-19 en España. Los casos de este período se comparan con los casos de los tres años anteriores. Resultados. Se incluyó a 29 pacientes. En los tres años anteriores, 24 pacientes presentaron la misma enfermedad, lo que supone que los casos se triplicaron. No se encontraron diferencias entre períodos, salvo que menos pacientes recibieron corticoides durante la pandemia (13,8 frente a 41,6%; p = 0,022). Catorce niños se sometieron a pruebas microbiológicas para detectar infección activa por el SARS-CoV-2 (12 reacciones en cadena de la polimerasa y dos test rápidos de antígenos), y todas fueron negativas. En 13 pacientes se realizó serología, y dos presentaron inmunoglobulina G positiva (15,3%). Conclusión. Se observó un aumento significativo de los casos de parálisis facial periférica en niños y adolescentes durante el primer año de la pandemia, aunque las pruebas microbiológicas no pueden confirmar un vínculo directo con la infección por el SARS-CoV-2 en la mayoría de los casos. Las características de los pacientes no cambiaron entre los dos períodos. La dificultad para acceder a los centros de atención primaria durante la pandemia pudo influir en este aumento.

Study of paediatric patients with the clinical and biochemical phenotype of glucose transporter type 1 deficiency syndrome.

INTRODUCTION: Glucose transporter type 1 (GLUT1) deficiency syndrome may present a range of phenotypes, including epilepsy, intellectual disability, and movement disorders. The majority of patients present low CSF glucose levels and/or defects in the SLC2A1 gene; however, some patients do not present low CSF glucose or SLC2A1 mutations, and may have other mutations in other genes with compatible phenotypes. AIMS: We describe the clinical, biochemical, and genetic characteristics of the disease and perform a univariate analysis of a group of patients with clinical and biochemical phenotype of GLUT1 deficiency syndrome, with or without SLC2A1 mutations. MATERIAL AND METHODS: The study included 13 patients meeting clinical and biochemical criteria for GLUT1 deficiency syndrome. SLC2A1 sequencing and multiplex ligation-dependent probe amplification were performed; exome sequencing was performed for patients with negative results. RESULTS: Six patients presented the classic phenotype; 2 paroxysmal dyskinesia, 2 complex movement disorders, 2 early-onset absence seizures, and one presented drug-resistant childhood absence epilepsy. Six patients were positive for SLC2A1 mutations; in the other 5, another genetic defect was identified. No significant differences were observed between the 2 groups for age of onset, clinical presentation, microcephaly, intellectual disability, or response to ketogenic diet. Patients with SLC2A1 mutations presented more clinical changes in relation to diet (66.7%, vs 28.6% in the SLC2A1-negative group) and greater persistence of motor symptoms (66% vs 28.6%); these differences were not statistically significant. Significant differences were observed for CSF glucose level (34.5 vs 46mg/dL, P=.04) and CSF/serum glucose ratio (0.4 vs 0.48, P<.05). CONCLUSIONS: GLUT1 deficiency syndrome may be caused by mutations to genes other than SLC2A1 in patients with compatible phenotype, low CSF glucose level, and good response to the ketogenic diet.

Sleep disorders in children with epilepsy. / Trastornos del sueño en niños con epilepsia.

INTRODUCTION: Children with epilepsy present greater prevalence of sleep disorders than the general population. Their diagnosis is essential, since epilepsy and sleep disorders have a bidirectional relationship. OBJECTIVE: Determine the incidence of sleep disorders and poor sleep habits in children with epilepsy. METHODS: We conducted a cross-sectional study of patients under 18 years of age with epilepsy, assessing sleep disorders using the Spanish-language version of the Sleep Disturbance Scale for Children (SDSC), and sleep habits using an original questionnaire. RESULTS: The sample included 153 patients. Eighty-four percent of our sample presented some type of sleep alteration. The most frequent alterations were sleep-wake transition disorders (53%), sleep initiation and maintenance disorders (47.7%), and daytime sleepiness (44.4%). In 70% of cases, the patients' parents reported that their child "slept well," although sleep disorders were detected in up to 75.7% of these patients. Many patients had poor sleep habits, such as using electronic devices in bed (16.3%), requiring the presence of a family member to fall asleep (39%), or co-sleeping or sharing a room (23.5% and 30.5%, respectively). Those with generalised epilepsy, refractory epilepsy, nocturnal seizures, and intellectual disability were more likely to present sleep disorders. In contrast, poor sleep habits were frequent regardless of seizure characteristics. CONCLUSIONS: Sleep disorders and poor sleep habits are common in children with epilepsy. Their treatment can lead to an improvement in the quality of life of the patient and his/her family, as well as an improvement in the prognosis of epilepsy.

[Tuberous sclerosis complex: analysis of areas of involvement, treatment progress and translation to routine clinical practice in a cohort of paediatric patients]. / Complejo esclerosis tuberosa: análisis de los ámbitos de afectación, progreso en el tratamiento y traslación a la práctica clínica habitual en una cohorte de pacientes pediátricos.

INTRODUCTION: Tuberous sclerosis complex (TSC) displays great phenotypic variability. Increasingly early diagnosis, including prenatal identification, entails the need for the paediatrician and neuropaediatrician to establish early suspicion and identification of factors that may influence prognosis and treatment. AIM: To determine the clinical criteria for early diagnosis, initial complementary tests, actions and treatments to prevent different comorbidities, so as to improve the prognosis of these patients. PATIENTS AND METHODS: Descriptive, retrospective study of = 18-year-olds with a definitive diagnosis of TSC in a tertiary hospital from 1998 to 2019. We collected variables referring to epidemiological data, multisystem involvement, complementary tests and genetics. RESULTS: Ninety-four patients were analysed. The main diagnostic reasons were epilepsy and rhabdomyomas. The frequency of occurrence of clinical criteria was determined, and neuropathological findings were the main findings, followed by cutaneous stigmata, rhabdomyomas and renal lesions. Statistical relationships were found between clinical, radiological and genetic aspects, the influence of preventive activities on the occurrence of epilepsy and the relevance of everolimus use were tested. CONCLUSIONS: Rhabdomyomas and skin stigmata in patients and parents are major diagnostic signs in infants. Tubers and subependymal nodules are statistically associated with the development of epilepsy. Early epileptic spasms, refractory to treatment in the first months, increase the risk of cognitive deficits and autism spectrum disorder. Epileptic abnormalities need to be closely monitored in the first year of life. Everolimus is an alternative treatment for several comorbidities, but its early use (< 3 years) requires further study.

TITLE: Complejo esclerosis tuberosa: análisis de los ámbitos de afectación, progreso en el tratamiento y traslación a la práctica clínica habitual en una cohorte de pacientes pediátricos.Introducción. El complejo esclerosis tuberosa (CET) presenta gran variabilidad fenotípica. El diagnóstico cada vez más precoz, incluyendo la identificación prenatal, conlleva la necesidad de establecer una sospecha e identificación temprana, por parte del pediatra y del neuropediatra, de factores que pueden influir en su pronóstico y tratamiento. Objetivo. Determinar los criterios clínicos de un diagnóstico precoz, las pruebas complementarias iniciales, las actuaciones y los tratamientos que prevengan diferentes comorbilidades, mejorando el pronóstico de estos pacientes. Pacientes y métodos. Estudio descriptivo, retrospectivo de = 18 años con diagnóstico definitivo de CET en un hospital terciario desde 1998 hasta 2019. Se recogieron variables epidemiológicas, de afectación multisistémica, pruebas complementarias y genética. Resultados. Se analizó a 94 pacientes. Los principales motivos diagnósticos fueron la epilepsia y los rabdomiomas. Se determinó la frecuencia de aparición de los criterios clínicos, y los hallazgos neuropatológicos fueron los principales, seguidos de los estigmas cutáneos, los rabdomiomas y las lesiones renales. Se comprobaron relaciones estadísticas entre aspectos clínicos, radiológicos, genéticos, la influencia de las actividades preventivas sobre la aparición de epilepsia y la relevancia del uso de everolimús. Conclusiones. Los rabdomiomas y los estigmas cutáneos en pacientes y progenitores constituyen signos diagnósticos principales en lactantes. Los túberes y los nódulos subependimarios tienen asociación estadística con el desarrollo de epilepsia. Los espasmos epilépticos en edades precoces, refractarios a tratamiento en los primeros meses, incrementan el riesgo de déficit cognitivo y trastorno del espectro autista. Es necesario monitorizar estrechamente las anomalías epilépticas en el primer año de vida. El everolimús supone una alternativa de tratamiento en varias comorbilidades, pero su uso precoz (menor de 3 años) precisa más estudios.

Opsoclonus-myoclonus syndrome: clinical characteristics, therapeutic considerations, and prognostic factors in a Spanish paediatric cohort. / Síndrome opsoclono-mioclono: características clínicas, aspectos terapéuticos y factores pronósticos en una cohorte pediátrica española.

INTRODUCTION: Opsoclonus-myoclonus-ataxia syndrome is a rare neuroinflammatory disorder with onset during childhood; aetiology may be paraneoplastic, para-infectious, or idiopathic. No biomarkers have yet been identified, and diagnosis is clinical. Better cognitive prognosis appears to be related to early onset of immunomodulatory therapy. METHODS: We describe the epidemiological, clinical, therapeutic, and long-term prognostic characteristics of a cohort of 20 Spanish patients. RESULTS: The mean age of onset was 21 months (range, 2-59). Ataxia and opsoclonus were the most frequent symptoms both at disease onset and throughout disease progression. The mean time from onset to diagnosis was 1.1 months. Neuroblast lineage tumours were detected in 45% of patients; these were treated with surgical resection in 7 cases and chemotherapy in 2. Cerebrospinal fluid analysis revealed pleocytosis in 4 cases (25%) and neither antineuronal antibodies nor oligoclonal bands were detected in any patient. Immunomodulatory drugs were used in all cases. Nine patients started combined immunomodulatory treatment at the time of diagnosis, and 5 patients after a mean of 2.2 months. In the long term, 6 of the 10 patients followed up for more than 5 years presented mild or moderate cognitive sequelae. Four patients presented relapses, generally coinciding with the decrease of corticosteroid doses. CONCLUSIONS: Early initiation of immunotherapy, as well as triple combination therapy, where needed, was associated with a lower frequency of cognitive impairment 2 years after onset.

[Immunoadsorption and plasmapheresis: possible treatments for Rasmussen's encephalitis?] / Inmunoadsorción y plasmaféresis: ¿posibilidades de tratamiento en la encefalitis de Rasmussen?

TITLE: Inmunoadsorción y plasmaféresis: ¿posibilidades de tratamiento en la encefalitis de Rasmussen?

Primary trochlear headache. A periorbital pain with a specific diagnosis and treatment. / Cefalea troclear primaria. Un dolor periorbitario con diagnóstico y tratamiento específicos.

Primary trochlear headache is a little-known cause of periorbital headache described in adults. It can involve very disabling pain. In addition, it can be associated with other types of headaches, making them even more difficult to identify. To diagnose this pathology, it is necessary that the examination of the trochlea be incorporated into the usual clinical practice of the patient with headache, which will allow the establishment of an adequate treatment. The case is presented of an adolescent patient with a diagnosis of migraine, who was admitted with a disabling headache secondary to a primary trochlear headache.

[Anti-NMDA receptor encephalitis with unilateral hemispheric affectation]. / Encefalitis por anticuerpos contra el receptor de NMDA con afectacion hemisferica unilateral.

TITLE: Encefalitis por anticuerpos contra el receptor de NMDA con afectacion hemisferica unilateral.

[Neurological complications in cases of bronchiolitis due to respiratory syncytial virus: febrile status and other neurological manifestations]. / Complicaciones neurologicas en casos de bronquiolitis por virus respiratorio sincitial: estado febril y otras manifestaciones neurologicas.

TITLE: Complicaciones neurologicas en casos de bronquiolitis por virus respiratorio sincitial: estado febril y otras manifestaciones neurologicas.

Study of paediatric patients with the clinical and biochemical phenotype of glucose transporter type 1 deficiency syndrome. / Estudio de pacientes pediátricos con fenotipo clínico y bioquímico de síndrome de déficit de transportador de glucosa cerebral (GLUT-1).

INTRODUCTION: Glucose transporter type 1 (GLUT1) deficiency syndrome may present a range of phenotypes, including epilepsy, intellectual disability, and movement disorders. The majority of patients present low CSF glucose levels and/or defects in the SLC2A1 gene; however, some patients do not present low CSF glucose or SLC2A1 mutations, and may have other mutations in other genes with compatible phenotypes. AIMS: We describe the clinical, biochemical, and genetic characteristics of the disease and perform a univariate analysis of a group of patients with clinical and biochemical phenotype of GLUT1 deficiency syndrome, with or without SLC2A1 mutations. MATERIAL AND METHODS: The study included 13 patients meeting clinical and biochemical criteria for GLUT1 deficiency syndrome. SLC2A1 sequencing and multiplex ligation-dependent probe amplification were performed; exome sequencing was performed for patients with negative results. RESULTS: Six patients presented the classic phenotype; 2 paroxysmal dyskinesia, 2 complex movement disorders, 2 early-onset absence seizures, and one presented drug-resistant childhood absence epilepsy. Six patients were positive for SLC2A1 mutations; in the other 5, another genetic defect was identified. No significant differences were observed between the 2 groups for age of onset, clinical presentation, microcephaly, intellectual disability, or response to ketogenic diet. Patients with SLC2A1 mutations presented more clinical changes in relation to diet (66.7% vs. 28.6% in the SLC2A1-negative group) and greater persistence of motor symptoms (66% vs. 28.6%); these differences were not statistically significant. Significant differences were observed for CSF glucose level (34.5 vs. 46mg/dL, P=.04) and CSF/serum glucose ratio (0.4 vs. 0.48, P<.05). CONCLUSIONS: GLUT1 deficiency syndrome may be caused by mutations to genes other than SLC2A1 in patients with compatible phenotype, low CSF glucose level, and good response to the ketogenic diet.

[Two new cases of Leigh syndrome caused by mutation m.13513G> A in the MTND5 gene]. / Dos nuevos casos de sindrome de Leigh por mutacion m.13513G>A en el gen MTND5.

TITLE: Dos nuevos casos de sindrome de Leigh por mutacion m.13513G>A en el gen MTND5.

[Ten years' experience with vagus nerve stimulation in a paediatric population]. / Diez años de experiencia con el estimulador del nervio vago en una poblacion pediatrica.

INTRODUCTION: Fifty million people are affected by epilepsy. Up to 30% are not controlled with the aid of antiepileptic drugs. The vagus nerve stimulator (VNS) is a therapeutic alternative that must be taken into account. AIMS: To determine the effect of the VNS in a cohort of paediatric patients with refractory epilepsy. PATIENTS AND METHODS: A retrospective study of children with a VNS implanted between 2008 and 2017 in a tertiary hospital. Epidemiological, aetiological, clinical and electrophysiological data, along with VNS parameters were analysed. RESULTS: The study included 35 patients, with a mean age when the VNS was implanted of 12.84 years (range: 3.1-18.7 years) and a mean time between onset of epilepsy and implantation of 7.2 years (range: 1.3-17.7 years). The causation was structural in 62.9% of cases. The most frequent epileptic conditions were: Lennox-Gastaut syndrome and focal epilepsy, with a predominance of tonic seizures (57.1%). The video electroencephalogram showed multifocal anomalies (54%) and a pattern of epileptic encephalopathies (34.3%). Intellectual disability was associated in 94% of the cases. The mean of previous antiepileptic drugs was 9.6 ± 3 (range: 4-16). 43% responded to treatment (>= 50% reduction in number of seizures), with a mean reduction of 67.3%, which improved with higher ages of onset of epilepsy. Three patients were seizure-free (8.5%). The number of seizures decreased by 33% at six months and by 47.4% at 24 months. There was also a notable degree of cognitive (57%) and behavioural improvement (53%). In 28% of cases there were some side effects, but in general they were mild. CONCLUSIONS: The VNS is a valid option in refractory epilepsy, with improvements not only in terms of seizures but also regarding cognitive-behavioural aspects, this being very important for the paediatric population.

TITLE: Diez años de experiencia con el estimulador del nervio vago en una poblacion pediatrica.Introduccion. La epilepsia afecta a 50 millones de personas. Hasta un 30% no se controla con farmacos antiepilepticos. El estimulador del nervio vago (ENV) constituye una alternativa terapeutica que hay que valorar. Objetivo. Determinar el efecto del ENV en una cohorte pediatrica con epilepsia refractaria. Pacientes y metodos. Estudio retrospectivo de niños con ENV implantado entre 2008 y 2017 en un hospital terciario. Se han analizado datos epidemiologicos, etiologicos, clinicos, electrofisiologicos y parametros del ENV. Resultados. Se incluyo a 35 pacientes, con una mediana de edad de implantacion de 12,84 años (rango: 3,1-18,7 años) y una mediana de evolucion entre el inicio de la epilepsia y la implantacion de 7,2 años (rango: 1,3-17,7 años). La etiologia fue estructural en el 62,9% de los casos. Cuadros epilepticos mas frecuentes: sindrome de Lennox-Gastaut y epilepsia focal, con predominio de las crisis tonicas (57,1%). El videoelectroencefalograma mostro anomalias multifocales (54%) y un patron de encefalopatia epileptica (34,3%). El 94% asociaba discapacidad intelectual. La media de farmacos antiepilepticos previos fue de 9,6 ± 3 (rango: 4-16). El 43% fueron respondedores (>= 50% reduccion de crisis), con una media de reduccion del 67,3%, mejor cuanto mayor era la edad de inicio de la epilepsia. Tres pacientes quedaron libres de crisis (8,5%). La reduccion de crisis fue del 33% a los 6 meses y del 47,4% a los 24 meses. Mejoria cognitiva (57%) y conductual (53%). El 28% tuvo efectos secundarios, generalmente leves. Conclusiones. El ENV es una opcion valida en la epilepsia refractaria con mejoria no solo de las crisis, sino tambien cognitiva y conductual, con la importancia que ello tiene para la poblacion pediatrica.

[Autoimmune pathology in neuropaediatrics: what aspects have really undergone a change]. / Patologia autoinmune en neuropediatria: en que aspectos ha existido realmente un cambio.

Autoimmune neurological diseases are an important group of pathologies in neuropaediatrics. The central nervous system was considered to be an immunologically privileged organ, as it protects itself from the surroundings by means of the blood-brain barrier. In recent years, however, reports have been published of a growing number of disorders produced by antibodies that react against neuronal or glial proteins and give rise to a wide variety of clinical conditions (epilepsy, encephalopathy, movement disorders, etc.). The same antibody can often cause different clinical manifestations and, in turn, different antibodies can be identified within the same disorder. Moreover, there are a number of clinical conditions that are highly suggestive of an autoimmune pathology in which we do not find any specific antibodies. Response to treatment is not always simple, and this has led to research on new immunomodulator treatments, other than corticosteroids and immunoglobulins. This review attempts to show the advances made in the diagnosis, treatment and prognosis of neuropaediatric autoimmune disorders.

TITLE: Patologia autoinmune en neuropediatria: en que aspectos ha existido realmente un cambio.Las enfermedades neurologicas autoinmunes constituyen un conjunto de patologias con gran relevancia en neuropediatria. El sistema nervioso central se consideraba un organo inmunologicamente privilegiado al protegerse del medio externo por la barrera hematoencefalica. Sin embargo, en los ultimos años se ha descrito un creciente numero de trastornos producidos por anticuerpos que reaccionan contra proteinas neuronales o gliales y originan una gran variedad de alteraciones clinicas (epilepsia, encefalopatia, trastornos del movimiento, etc.). Frecuentemente, un mismo anticuerpo puede dar lugar a diferentes manifestaciones clinicas y, a su vez, en un mismo trastorno pueden identificarse distintos anticuerpos. Ademas, existen cuadros clinicos muy sugestivos de patologia autoinmune donde no hallamos anticuerpos especificos. La respuesta al tratamiento no siempre es sencilla, por lo que se han investigado nuevos tratamientos inmunomoduladores, mas alla de los corticoides y las inmunoglobulinas. En esta revision, se intenta mostrar el avance en el diagnostico, tratamiento y pronostico de los trastornos autoinmunes neuropediatricos.

[Kleine-Levin syndrome: differential diagnosis in recurrent encephalitic syndromes in adolescence]. / Sindrome de Kleine-Levin: diagnostico diferencial en los sindromes encefaliticos recurrentes del adolescente.

INTRODUCTION: The Kleine-Levin syndrome is a rare disease of unknown origin characterized by recurrent and self-limited episodes of hypersomnia that are also accompanied by a cognitive and behavioral dysfunction. Patients present normal sleeping and behavior patterns between episodes. CASE REPORTS: We present three patients who are 14 years old: two boys and one girl. They started having the episodes after a predisposing factor (vaccine, influenza B and menstruation). During the episode they presented hypersomnolence and while wakefulness they were bradipsychic, in motor restlessness and with emotional liability. They also presented a tendency towards crying and claimed the presence of relatives constantly. The episodes lasted between 10 and 15 days and they appeared monthly, being asymptomatic between episodes. All three patients were attended initially by pediatricians, diagnosed and treated as autoimmune encephalitis. Only one of our cases had the three typical symptoms of hypersomnia, hyperfagia and hypersexuality. However, none of the three had been asked initially and the family only referred to it after the directed anamnesis. CONCLUSIONS: The Kleine-Levin syndrome presents neurologic symptoms initially more frequently than psychiatric ones. Hypersomnia and behavioural disturbances during wakefulness, bradypsychia, apatheia and emotional liability make us suspect that it could be an encephalitis process. We should be aware of this entity if we face a patient with recurrent encephalitis of unknown origin.

TITLE: Sindrome de Kleine-Levin: diagnostico diferencial en los sindromes encefaliticos recurrentes del adolescente.Introduccion. El sindrome de Kleine-Levin es una enfermedad rara de causa desconocida que se caracteriza por episodios recurrentes autolimitados de hipersomnia acompañados de alteracion cognitiva y conductual. Entre los episodios, los pacientes tienen un patron de sueño y cognitivo normal. Casos clinicos. Se presentan tres pacientes de 14 años, dos chicos y una chica. Comenzaron tras un desencadenante (vacuna, una infeccion respiratoria por influenza B; en el caso de la chica, coincidian con la menstruacion). En el episodio agudo mostraban tendencia al sueño y en vigilia destacaba bradipsiquia, inquietud motora y gran labilidad emocional, con tendencia al llanto y necesidad de la presencia de los familiares. Presentaron una duracion aproximada de 10-15 dias y periodicidad mensual, y se mostraron asintomaticos entre los episodios. Los tres pacientes fueron valorados por pediatras, diagnosticados y tratados de encefalitis autoinmune. Solo uno cumplia la triada tipica de hipersomnia, hiperfagia e hipersexualidad, pero ninguno de los tres datos se habia recogido en la historia clinica inicial y la familia solo lo referia tras una anamnesis dirigida. Conclusiones. En el sindrome de Kleine-Levin, los sintomas neurologicos durante el cuadro agudo son aun mas frecuentes que los psiquiatricos. La tendencia al sueño y el hecho de que durante la vigilia no esten asintomaticos y se muestren lentos, apaticos, labiles e irascibles, situa en primer lugar la sospecha de sindrome encefalitico. Debemos tener presente esta entidad en encefalitis recurrentes de etiologia no filiada.