[Vagus nerve stimulation: treatment of 158 pediatric patients with a long-term follow-up]. / Estimulador del nervio vago: tratamiento en 158 pacientes pediatricos con un largo seguimiento.

AIM: To describe a series of patients with drug resistant epilepsy treated with vagus nerve stimulation in a national pediatric hospital, evaluating efficacy, safety and tolerability. PATIENTS AND METHODS: A retrospective analysis of 158 pediatric patients with epilepsy resistant to pharmacological and non pharmacological treatment including surgery that were treated with vagus nerve stimulation between 2001-2015. Patients with progressive encephalopathies, and congenital heart disease were excluded. RESULTS: 158 patients (80 male) were included, with a mean age at implantation of 11.4 years and a mean age at evolution of epilepsy of 9.5 years. Time of follow-up: 1-15 years (median: 6.9 years). Patient's age at this time: 2-31 years (median: 14.1 years). Effectiveness: 66.5% of patients showed more or equal at 50% of seizure control at 24 months of implant. Just three patients showed severe side effects (1.8%). Minor side effects were seen in 26 patients (16.4%). Without side effects: 129 (81.8%). CONCLUSION: Vagus nerve stimulation is an effective, tolerable and safe therapy in our pediatric series with refractory epilepsy.

TITLE: Estimulador del nervio vago: tratamiento en 158 pacientes pediatricos con un largo seguimiento.Objetivo. Describir una poblacion pediatrica de pacientes con epilepsia farmacorresistente tratada con estimulador del nervio vago en un hospital nacional de pediatria, evaluando la eficacia, la tolerabilidad y la seguridad del tratamiento. Pacientes y metodos. Se realizo un analisis retrospectivo de 158 pacientes pediatricos seguidos por epilepsia refractaria al tratamiento farmacologico y no farmacologico, incluida la cirugia, que fueron tratados con estimulador del nervio vago entre los años 2001 y 2015. Se excluyeron pacientes con encefalopatias evolutivas y cardiopatias congenitas. Resultados. Se incluyeron 158 pacientes (80 varones) con una edad media de implante de 11,4 años y un tiempo de evolucion de epilepsia preimplante de 9,5 años. El tiempo de seguimiento fue de 1-15 años (mediana: 6,9 años); la edad actual de los pacientes, 2-31 años (mediana: 14,1 años). A los 24 meses postimplante, un 66,5% de los pacientes presento una mejoria mayor o igual al 50% de las crisis previas. Solo tres pacientes (1,8%) presentaron efectos adversos graves, 26 (16,4%) mostraron efectos adversos menores y 129 (81,8%) no mostraron efectos adversos al tratamiento. Conclusion. La terapia con estimulador del nervio vago en esta serie pediatrica con epilepsia refractaria fue eficaz, bien tolerada y segura.

Displasia septo-optica. Evaluación clínica, endocrinológica y neuro-radiológica. Seguimiento de 46 pacientes pediátricos / Septo-optic dysplasia. Clinical, endocrinological, and neuroradiological evaluation. Follow-up of 46 pediatric patients

La displasia septo-óptica (DSO) es una condición rara y altamente heterogénea, definida por la combinación de hipoplasia del nervio óptico (HNO), malformaciones cerebrales de la línea media, tales como aplasia/hipoplasia de septum pellucidum y cuerpo calloso, e insuficiencia hipotálamo-hipofisaria de grado variable. Se realizó un trabajo que tuvo como objetivo caracterizar la población de pacientes con diagnóstico de DSO seguidos en nuestro Hospital durante 7 años. Se incluyeron 46 pacientes (18 mujeres) que fueron divididos en 2 grupos, según tuviesen o no insuficiencia hipotálamo-hipofisaria (IHH). El 58.7% (n=27) presentó IHH de algún tipo, mientras que el 41.3% (n=19) no la presentó. En aquellos 19 pacientes con IHH se diagnosticaron deficiencia de GH y TSH (85.1%) y de ACTH (48.1%). La longitud corporal (mediana) del grupo con IHH fue más baja (p = 0,01) que la del grupo sin IHH, a pesar de que la edad fue menor a 2 años en todos los casos. Los pacientes fueron seguidos 1,3-8,3 años. Se observaron incidencias similares de agenesia del cuerpo calloso, del septum pellucidum, y ventriculomegalia, pero las alteraciones del desarrollo cortical se observaron con mayor frecuencia en los pacientes sin IHH. La ictericia neonatal, convulsiones y/o hipoglucemia, y micropene en neonatos y lactantes con DSO se presentaron en el subgrupo con IHH. El 58,7% de los pacientes con DSO presentaron algún grado de insuficiencia hipotálamo-hipofisaria. En la mayoría de los casos el diagnóstico de IHH no se realizó en el momento de aparición de los síntomas, sino más tardíamente en su seguimiento. En el 45% de los pacientes se evaluaron alteraciones radiológicas del SNC, específicamente en la región hipofisaria. Una fracción importante de las deficiencias de TSH/T4 (36,4%), GH (50%) y ACTH (23%) aparecieron mas tardíamente en el curso de la evolución. En 10 niños con déficit de hormona de crecimiento (2 tests farmacológicos sin respuesta) se realizó el tratamiento sustitutivo con rhGH (durante un periodo de 4±3 años), observándose una mejoría promedio de + 1,5 SDS en la talla de estos pacientes. En conclusión, la hipoplasia neonatal de nervios ópticos, asociada o no a ictericia e hipoglucemia, debe ser un signo de alarma para el diagnóstico de DSO, con riesgo de insuficiencia suprarrenal, shock y muerte, y puede requerir, por lo tanto, urgente tratamiento. Las deficiencias pueden aparecer en el curso de la evolución, a pesar del carácter congénito de la anomalía. Finalmente, se deben sustituir las deficiencias hormonales y tener presente que el tratamiento con rhGH puede mejorar la talla final en estos pacientes (AU)

Septo-optic dysplasia (SOD) is a rare and highly heterogeneous condition consisting of a combination of optic nerve hypoplasia (ONH), midline brain abnormalities, such as aplasia/hypoplasia of the septum pellucidum (ASP) and corpus callosum; and variable degree of hypoyalamo-pituitary insufficiency. The aim of this study was to characterize a population of SOD patients diagnosed and followed at the Garrahan Pediatric Hospital, from 1989 to 2006. We included 46 patients (18 females), that were divided into two groups according to the presence or absence of hypothalamic-pituitary insufficiency (IHH). Fifty nine% of SOD patients presented with IHH. GH and TSH deficiencies were diagnosed in 85.1% of IHH patients, while ACTH deficiency was found in 48.1%. Height (median) for the IHH group was shorter (p = 0,01) than for the group without IHH. Patients were followed for 1.3-8.3 years. Similar incidence of corpus callosum and/or septum pellucidum agenesis and ventriculomegaly were found in the two groups, but we observed more association with cortical developmental disorders in patients without IHH. In newborns, the association of ophthalmologic disorders and jaundice, seizures and/or hypoglycemia and micropene should frequently lead to the diagnosis of SOD and IHH. While 58,7% of DSO patients presented with hypothalamic-pituitary deficiency, only 45% of them showed sellar radiological abnormalities. Although SOD is a congenital disease, hormonal deficiencies may appear during follow-up. In 10 children with SOD and GH deficiency, rhGh treatment (for 4±3 years) improved height in 1.5 SDSs. In conclusion: in newborns with nerve optic hypoplasia, associated or not with jaundice, seizures and hypoglycaemia, the diagnosis of SOD and IHH should be considered. Treatment could be an emergency need because of risk of adrenal insufficiency and hypoglycemia (AU)

Cognicion e impacto familiar en niños con epilepsias refractarias: Resultados preliminares en 100 casos / Cognition and familial impact of children with refractory epilepsy. Preliminary results in 100 cases

Objetivos: conocer el nivel cognitivo global y el impacto familiar en un grupo de niños con epilepsias de dificil control, posibles candidatos a tratamiento quirúrgico. Material y método: la muestra estuvo constituida por 100 niños (edad media 11.2 años). El nivel cognitivo global se evaluó con un test de inteligencia general (Stanford-Binet, Wechsler). El impacto sobre la familia se estimó a través de una encuesta donde se consideró la percepción subjetiva de los padres acerca del nivel de calidad de vida de sus hijos. Resultados. Nivel cognitivo: el 58 por ciento registra retraso mental de grado leve a grave (Organización Mundial de la Salud OMS) el 11 por ciento tiene un cociente intelectual promedio y el 31 por ciento restante se sitúa en la franja de normal bajo y limítrofe. Percepción subjetiva de calidad de vida: 12 por ciento mala o muy mala, 40 por ciento regular, 37 por ciento buena, y 11 por ciento muy buena. Conclusiones. coincidente con otras investigaciones los niños con epilepsias refractantes registran un nivel intelectual inferior al término medio, lo cual refleja un grado variable pero claramente significativo de afectación cognitiva. De acuerdo a la percepción de sus padres, la calidad de vida es mala o regular en el 52 por ciento de los casos. Estos datos confirman la importancia de buscar medidas terapéuticas más efectivas, incluyendo un eventual tratamiento quirúrgico con el objeto de evitar o detener el deterioro cognitivo y mejorar la calidad de vida (presente y futura)de estos niños(AU)

Cognicion e impacto familiar en niños con epilepsias refractarias: Resultados preliminares en 100 casos / Cognition and familial impact of children with refractory epilepsy. Preliminary results in 100 cases

Objetivos: conocer el nivel cognitivo global y el impacto familiar en un grupo de niños con epilepsias de dificil control, posibles candidatos a tratamiento quirúrgico. Material y método: la muestra estuvo constituida por 100 niños (edad media 11.2 años). El nivel cognitivo global se evaluó con un test de inteligencia general (Stanford-Binet, Wechsler). El impacto sobre la familia se estimó a través de una encuesta donde se consideró la percepción subjetiva de los padres acerca del nivel de calidad de vida de sus hijos. Resultados. Nivel cognitivo: el 58 por ciento registra retraso mental de grado leve a grave (Organización Mundial de la Salud OMS) el 11 por ciento tiene un cociente intelectual promedio y el 31 por ciento restante se sitúa en la franja de normal bajo y limítrofe. Percepción subjetiva de calidad de vida: 12 por ciento mala o muy mala, 40 por ciento regular, 37 por ciento buena, y 11 por ciento muy buena. Conclusiones. coincidente con otras investigaciones los niños con epilepsias refractantes registran un nivel intelectual inferior al término medio, lo cual refleja un grado variable pero claramente significativo de afectación cognitiva. De acuerdo a la percepción de sus padres, la calidad de vida es mala o regular en el 52 por ciento de los casos. Estos datos confirman la importancia de buscar medidas terapéuticas más efectivas, incluyendo un eventual tratamiento quirúrgico con el objeto de evitar o detener el deterioro cognitivo y mejorar la calidad de vida (presente y futura)de estos niños

[Clinical and electroencephalographic aspects of late infantile neuronal ceroid lipofuscinosis]. / Lipofuscinosis neuronal ceroidea infantil tardía: aspectos clínicos y electroencefalográficos.

AIMS: In this paper we describe the clinical characteristics, and particularly the epileptic seizures and electroencephalographic findings, in 15 patients with a pathology diagnosis of late infantile neuronal ceroid lipofuscinosis (NCL). PATIENTS AND METHODS: Nine female and six male patients were studied and their clinical records covering the period February 1990 to June 2003 were analysed. Neuroimaging, neurometabolic studies, ERG, PE and repeated EEG were carried out in all cases. RESULTS: The mean age on onset of the disease was 3 years (range: 1-5 years). The initial symptom was epilepsy in all cases. Massive myoclonias and myoclonic-atonic seizures were the most frequent kinds of attacks. Focal myoclonias were observed in six patients. Other types of epileptic seizures observed included generalised tonic-clonic, absence, motor focal and complex focal. The epileptic seizures were resistant to therapy. Progressive neurological and visual impairment, pyramidal and cerebellar signs, as well as mental retardation were present in all cases. Intercritical EEG recordings showed diffuse paroxysms with spike and polyspike waves, multifocal spikes and, less often, focal spikes that were predominant in posterior regions. Photostimulation showed high amplitude (300-450) occipital spikes during the application of light stimulation between 1 and 8 Hz. ERG, VEP and SSEP results were pathological. Images showed signs of brain and cerebellar atrophy. Seven of the patients died between 8.5 and 11 years of age. CONCLUSIONS: Late infantile NCL must be considered in the case of a child aged between 1 and 5 years who presents seizures that are predominantly generalised myoclonias and myoclonic-atonic, in association with progressive neurological deterioration including pyramidal, cerebellar and visual signs and an EEG trace showing occipital paroxysms triggered by low frequency photostimulation.

Lipofuscinosis neuronal ceroidea infantil tardía: aspectos clínicos y electroencefalográficos / Clinical and electroencephalographic aspects of late infantile neuronal ceroid lipofuscinosis

Objetivo. Describimos las características clínicas, particularmente las crisis epilépticas y los hallazgos electroencefalográficos, en 15 pacientes con diagnóstico anatomopatológico de lipofuscinosis neuronal ceroidea (LNC) infantil tardía. Pacientes y métodos. Se estudiaron y se analizaron las historias clínicas de nueve pacientes del sexo femenino y seis del masculino durante el período comprendido entre febrero de 1990 y junio de 2003. En todos los casos se realizaron neuroimágenes, estudios neurometabólicos, ERG, PE y repetidos EEG . Resultados. La edad mediana de comienzo de la enfermedad fue de 3 años (intervalo: 1-5 años). La manifestación inicial fue la epilepsia en todos los casos. Las crisis más frecuentes fueron las mioclonías masivas y las crisis mioclonicoatónicas. Se observaron mioclonías focales en seis pacientes. Otros tipos de crisis epilépticas observados fueron tonicoclónicas generalizadas, ausencias, focales motoras y focales complejas. Las crisis epilépticas fueron refractarias al tratamiento. En todos los casos se presentaron deterioro neurológico y visual progresivo, signos piramidales y cerebelosos y retraso mental . Los EEG intercríticos mostraron paroxismos de punta y polipunta onda difusos, espigas multifocales y, menos frecuentemente, espigas focales predominantes en las regiones posteriores. La fotoestimulación mostró espigas occipitales de elevada amplitud (300-450) durante el estímulo lumínico entre 1 y 8 Hz. El ERG, los PE visuales y los PE somatosensoriales fueron patológicos. Las imágenes evidenciaron signos de atrofia cerebral y cerebelosa. Siete de los pacientes fallecieron entre los 8,5 y los 11 años. Conclusión. En un niño de 1-5 años que comienza con convulsiones, predominantemente mioclonías generalizadas y mioclonicoatónicas asociadas a deterioro neurológico progresivo que incluye signos piramidales, cerebelosos y visuales con un EEG con paroxismos occipitales desencadenados por la fotoestimulación a baja frecuencia, debemos pensar en una LNC infantil tardía

Aims. In this paper we describe the clinical characteristics, and particularly the epileptic seizures and electroencephalographic findings, in 15 patients with a pathology diagnosis of late infantile neuronal ceroid lipofuscinosis (NCL). Patients and methods. Nine female and six male patients were studied and their clinical records covering the period February 1990 to June 2003 were analysed. Neuroimaging, neurometabolic studies, ERG, PE and repeated EEG were carried out in all cases. Results. The mean age on onset of the disease was 3 years (range: 1-5 years). The initial symptom was epilepsy in all cases. Massive myoclonias and myoclonic-atonic seizures were the most frequent kinds of attacks. Focal myoclonias were observed in six patients. Other types of epileptic seizures observed included generalised tonic-clonic, absence, motor focal and complex focal. The epileptic seizures were resistant to therapy. Progressive neurological and visual impairment, pyramidal and cerebellar signs, as well as mental retardation were present in all cases. Intercritical EEG recordings showed diffuse paroxysms with spike and polyspike waves, multifocal spikes and, less often, focal spikes that were predominant in posterior regions. Photostimulation showed high amplitude (300-450) occipital spikes during the application of light stimulation between 1 and 8 Hz. ERG, VEP and SSEP results were pathological. Images showed signs of brain and cerebellar atrophy. Seven of the patients died between 8.5 and 11 years of age. Conclusions. Late infantile NCL must be considered in the case of a child aged between 1 and 5 years who presents seizures that are predominantly generalised myoclonias and myoclonic-atonic, in association with progressive neurological deterioration including pyramidal, cerebellar and visual signs and an EEG trace showing occipital paroxysms triggered by low frequency photostimulation

[Pyridoxine dependence: the importance of the clinical diagnosis and early treatment]. / Dependencia de piridoxina: valor del diagnóstico clínico y del tratamiento precoz.

OBJECTIVE: We described the electroclinical features, evolution and family history of two patients with definitive diagnosis of pyridoxine dependency. CASE REPORTS: The first patient is a 15-month-old girl who at 1 month of age started with seizures and irritability. At two months of age, pyridoxine was prescribed with a good control of seizures. At five months of age withdrawal response provoked 7 days after seizures recurrence. Pyridoxine was reintroduced and seizures disappeared. Her sister, at two months of age, started with refractory seizures. This sister also had mental retardation and at four years, she died. Her brother, 16 years old, presents mental retardation, refractory epilepsy and progressive motor and cognitive impairment. At 3 months of age, he started with seizures and at 15 years of age, pyridoxine was prescribed with a significative improvement the number of seizures and a better visual connection. The second patient is a 4-month-old girl who started with clonic seizures at 3 days of age and she had a good response to pyridoxine. Withdrawal response provoked seizure recurrence at 48 hours. Pyridoxine was introduced immediately with total control of seizures. She had two cousins with seizures who died at 3 months and 3 years of age respectively. CONCLUSION: When dealing with an infant with refractory seizures which start in the first two years of life and without etiology, we should consider the diagnosis of pyridoxine dependency. Early diagnosis and treatment with pyridoxine is crucial to avoid high risk morbidity and mortality. All infants in the two first years of life with refractory seizures without etiology must be prescribed oral pyridoxine (50-200 mg per day).

[Hemiparetic cerebral palsy and startle epilepsy]. / Parálisis cerebral hemiparética y epilepsia del sobresalto.

OBJECTIVES: We analyzed electroclinical features and evolution in nine patients with hemiparetic cerebral palsy associated with SE. PATIENTS AND METHODS: Nine patients with mean age 12.3 years and a follow up from 1 to 11 years were studied, analyzing etiology, neurological examination, psychometric evaluation, age at onset and semiology of epileptic seizures, EEGs and neuro-radiological findings, response to treatment and evolution. RESULTS: Etiologies were: porencephaly in 4 cases, hypoxic-ischemic encephalopathy in 2, bacterial meningitis in 1, herpetic encephalitis in 1 and meningo-encephalitis in the last. All cases had mental retardation. Mean age at onset of epileptic seizures was 4 years. Mean age at onset of startle seizures was 6. The startle seizures were characterized by sudden tonic contractions of the paretic hemibody, provoked by auditory stimulus in 6, somatosensory in 2 and both types of stimulus in 1. Falls were observed in 6 patients. Seizures were daily and always when awake. Unprovoked focal seizures with or without secondary generalization were found in 8 cases, and in 6 they presented previously to the startle seizures. Interictal EEGs showed unilateral spikes in 3, bilateral spikes in 3 and generalized polyspike-wave paroxysms in the other three cases. Ictal EEGs were obtained in 8 of the 9 patients and showed diffuse paroxysms of rhythms 6-11 Hz. Cerebral CT scan and/or MRI revealed extensive unilateral encephalomalacia in 5 and porencephaly in 4. The different antiepileptic schedules were unsuccessful in all cases. Surgery was performed in two patients. They are free of seizures after 1 to 4 years of follow up. CONCLUSION: SE should be considered as a distinctive epileptic syndrome or a particular electro-clinical evolution in patients with a large unilateral brain lesion associated with provoked reflex seizures usually refractory to antiepileptic drugs. Epileptic surgery should be considered.

Dependencia de piridoxina: valor del diagnóstico clínico y del tratamiento precoz / Pyridoxine dependence: the importance of the clinical diagnosis and early treatment

Objective. We described the electroclinical features, evolution and family history of two patients with definitive diagnosis of pyridoxine dependency. Case reports. The first patient is a 15-month-old girl who at 1 month of age started with seizures and irritability. At two months of age, pyridoxine was prescribed with a good control of seizures. At five months of age withdrawal response provoked 7 days after seizures recurrence. Pyridoxine was reintroduced and seizures disappeared. Her sister, at two months of age, started with refractory seizures. This sister also had mental retardation and at four years, she died. Her brother, 16 years old, presents mental retardation, refractory epilepsy and progressive motor and cognitive impairment. At 3 months of age, he started with seizures and at 15 years of age, pyridoxine was prescribed with a significative improvement the number of seizures and a better visual connection. The second patient is a 4-month-old girl who started with clonic seizures at 3 days of age and she had a good response to pyridoxine. Withdrawal response provoked seizure recurrence at 48 hours. Pyridoxine was introduced immediately with total control of seizures. She had two cousins with seizures who died at 3 months and 3 years of age respectively. Conclusion. When dealing with an infant with refractory seizures which start in the first two years of life and without etiology, we should consider the diagnosis of piridoxine dependency. Early diagnosis and treatment with piridoxine is crucial to avoid high risk morbility and mortality. All infants in the two first years of life with refractory seizures without etiology must be prescribed oral pyridoxine (AU)

Objetivo. Describimos las características clínicas, electroencefalográficas y evolutivas y los antecedentes familiares de dos pacientes con diagnóstico definitivo de dependencia de piridoxina (DP). Casos clínicos. El primer paciente, de sexo femenino, de 15 meses de edad, inició con convulsiones e irritabilidad al mes de vida. A los dos meses de vida inicia el tratamiento con vitamina B6, y logra un control total de las crisis. A los cinco meses de edad se realizó la prueba de suspensión de la vitamina B6 y reinició las convulsiones a los siete días, por lo que se reintrodujo la misma. Su hermana, con convulsiones refractarias al tratamiento desde los dos meses de edad y retardo mental, falleció a los 4 años. Su hermano vivo, de 16 años de edad, presentó epilepsia intratable desde los tres meses de vida y deterioro progresivo motor e intelectual. A los 15 años de edad se le indicó vitamina B6, con una disminución significativa del número de crisis y una mejoría de su grado de conexión visual. El segundo paciente, mujer de cuatro meses de edad e hija única, comenzó con clonías generalizadas desde los tres días de vida, con una excelente respuesta a la piridoxina; se reiniciaron las mismas a las 48 h de suspendida, y desaparecieron una vez reintroducida la vitamina B6. Tuvo dos primos hermanos con convulsiones, fallecidos a los tres meses y tres años, respectivamente. Conclusión. El diagnóstico de DP debe considerarse en un lactante con convulsiones refractarias de inicio en los dos primeros años de vida y sin etiología reconocida. El diagnóstico precoz y el tratamiento con vitamina B6 es crucial para evitar los altos riesgos de morbilidad y mortalidad. Por lo tanto, en todo lactante menor de dos años con convulsiones refractarias, sin etiología determinada, debemos indicar piridoxina por vía oral (50200 mg/día) (AU)

Parálisis cerebral hemiparética y epilepsia del sobresalto / Hemiparetic cerebral palsy and startle epilepsy

Objetivo. Describir las características clinicoelectroencefalográficas, terapéuticas y evolutivas de nueve pacientes con parálisis cerebral (PC) hemiparética y epilepsia del sobresalto. Pacientes y métodos. Se evaluaron las historias clínicas de seis hombres y tres mujeres con una edad media de 12,3 años y un seguimiento de 1-11 años. Se analizaron los siguientes parámetros: etiología, examen neurológico, evaluación psicométrica, edad de comienzo y semiología de las crisis epilépticas, electroencefalogramas intercríticos y críticos, hallazgos neurorradiológicos, respuesta al tratamiento y evolución. Resultados. Las etiologías fueron: porencefalia en cuatro casos, encefalopatía hipoxicoisquémica en dos, meningitis bacteriana en uno, encefalitis herpética en uno y meningoencefalitis en el restante. Todos los casos presentaron retraso mental. La mediana del inicio de las convulsiones espontáneas fue de 4 años, y la de comienzo de las crisis de sobresalto, de 6 años. Las crisis epilépticas se caracterizaron por contracciones tónicas rápidas, que afectaban al cuerpo hemiparético, desencadenadas por estímulos auditivos en seis, somatosensitivos en dos y ambos tipos de estímulos en uno. En seis de los pacientes, este tipo de crisis les provocaba caídas frecuentes. Las crisis fueron siempre en vigilia y diarias. Se presentaron crisis epilépticas focales espontáneas, con o sin generalización secundaria, en ocho pacientes, en seis de los cuales se presentaron antes de las crisis sensibles al estímulo. Los EEG intercríticos mostraron espigas unilaterales en tres, espigas bilaterales en otros tres y paroxismos generalizados de polipunta-onda lenta en los tres restantes. Los EEG críticos obtenidos en ocho de los nueve pacientes mostraron paroxismos difusos de ritmos a 6-11 Hz. Los hallazgos de neuroimágenes (TAC o RM de cerebro) mostraron encefalomalacia unilateral en cuatro y por encefalia en cinco. Las crisis epilépticas reflejas fueron refractarias a los fármacos antiepilépticos (FAE). Dos de los pacientes se intervinieron quirúrgicamente, en un caso se realizó una hemisferectomía funcional y en el otro una lesionectomía amplia, acompañada de una transección subpial en el área motora. Ambos pacientes están libres de crisis después de uno a cuatro años. Conclusión. Se debería considerar como un síndrome epiléptico definido o una particular evolución electroclínica en aquellos pacientes con lesiones cerebrales extensas asociadas con crisis de sobresalto sensibles a estímulos y refractarias al tratamiento con FAE. La cirugía de la epilepsia debe considerarse una alternativa terapéutica (AU)

Objectives. We analyzed electroclinical features and evolution in nine patients with hemiparetic cerebral palsy associated with SE. Patients and methods. Nine patients with mean age 12.3 years and a follow up from 1 to 11 years were studied, analyzing etiology, neurological examination, psychometric evaluation, age at onset and semiology of epileptic seizures, EEGs and neuro-radiological findings, response to treatment and evolution. Results. Etiologies were: porencephaly in 4 cases, hipoxicischemic encephalopathy in 2, bacterial meningitis in 1, herpetic encephalitis in 1 and meningo-encephalitis in the last. All cases had mental retardation. Mean age at onset of epileptic seizures was 4 years. Mean age at onset of startle seizures was 6. The startle seizures were characterized by sudden tonic contractions of the paretic hemibody, provoked by auditory stimulus in 6, somatosensory in 2 and both types of stimulus in 1. Falls were observed in 6 patients. Seizures were daily and always when awake. Unprovoked focal seizures with or without secondary generalization were found in 8 cases, and in 6 they presented previously to the startle seizures. Interictal EEGs showed unilateral spikes in 3, bilateral spikes in 3 and generalized polyspike-wave paroxysms in the other three cases. Ictal EEGs were obtained in 8 of the 9 patients and showed diffuse paroxysms of rhythms 6-11 Hz. Cerebral CT scan and/or MRI revealed extensive unilateral encephalomalacia in 5 and porencephaly in 4. The different antiepileptic schedules were unsuccessful in all cases. Surgery was performed in two patients. They are free of seizures after 1 to 4 years of follow up. Conclusion. SE should be considered as a distinctive epileptic syndrome or a particular electro-clinical evolution in patients with a large unilateral brain lesion associated with provoked reflex seizures usually refractory to antiepileptic drugs. Epileptic surgery should be considered (AU)

[Delayed-type subacute measles encephalitis]. / Encefalopatía sarampionosa subaguda retardada.

INTRODUCTION: We analyze the clinical, neurological, EEG, neuroradiological features and evolution of two patients with subacute measles encephalitis. CASE REPORTS: The patients, aged five years and eleven months respectively showed an acute, progressive neurological compromise and deterioration of consciousness, epilepsia partialis continua and progressive damage on neuroimaging, with a history of measles in the first case and exposure to the virus in the second. The first patient had Hodgkin's disease and the other had a familial C4 deficit disorder. Fundoscopic examination showed lesions on the retina. The EEG showed unilateral slow waves and spikes. Brain CT and MRI revealed progressive cerebral atrophy and a unilateral corticosubcortical lesion. Measles antibodies in CSF were found in the first child and oligoclonal bands in the second. Our first patient died after three months and the second has a severe neurological damage. CONCLUSION: In immunocompromised patients with the exposure to a history of measles, acute neurological compromised and deterioration of consciousness, epilepsia partialis continua and progressive damage on neuroimaging, subacute measles encephalitis should be considered.

Encefalopatía sarampionosa subaguda retardada / Subacute measles encephalitis

Introducción. Analizamos las características clínicas, neurológicas, electroencefalográficas y evolutivas en dos pacientes con encefalopatía sarampionosa subaguda retardada. Casos clínicos. Ambos pacientes, uno a los cinco años y el otro a los 11 meses, presentaron un deterioro agudo neurológico y de conciencia, epilepsia parcial continua y lesiones progresivas en los estudios de imágenes, con antecedentes de haber padecido sarampión en el primer caso y contacto con el virus en el segundo. El primer paciente tenía linfoma de Hodgkin y el segundo presentaba un déficit familiar de C4. El fondo de ojo evidenció lesiones retinianas, el EEG mostró ondas lentas unilaterales con ondas agudas o espigas intercaladas. La TAC y la RM de cerebro mostraron atrofia cerebral progresiva con lesiones extensas corticosubcorticales unilaterales. El análisis del LCR en el primer caso evidenció anticuerpos contra sarampión elevados, y en el segundo, bandas oligoclonales. El primer paciente falleció a los tres meses de haber iniciado el cuadro neurológico y el segundo paciente presenta un grave deterioro neurológico. Conclusión. En pacientes inmunosuprimidos con antecedentes de exposición al virus del sarampión, deterioro agudo neurológico y de conciencia, epilepsia parcial continua y lesiones progresivas en los estudios neurorradiológicos, debemos considerar el diagnóstico de encefalopatía sarampionosa subaguda retardada (AU)

Introduction. We analyze the clinical, neurological, EEG, neuroradiological features and evolution of two patients with subacute measles encephalitis. Case reports. The patients, aged five years and eleven months respectively showed an acute, progressive neurological compromise and deterioration of consciousness, epilepsia partialis continua and progressive damage on neuroimaging, with a history of measles in the first case and exposure to the virus in the second. The first patient had Hodgkin’s disease and the other had a familial C4 deficit disorder. Fundoscopic examination showed lesions on the retina. The EEG showed unilateral slow waves and spikes. Brain CT and MRI revealed progressive cerebral atrophy and a unilateral corticosubcortical lesion. Measles antibodies in CSF were found in the first child and oligoclonal bands in the second. Our first patient died after three months and the second has a severe neurological damage. Conclusion. In immunocrompromised patients with the exposure to a history of measles, acute neurological compromised and deterioration of consciousness, epilepsia partialis continua and progressive damage on neuroimaging, subacute measles encephalitis should be considered (AU)

[Angelman syndrome: the electroclinical characteristics in 35 patients]. / Sindrome de Angelman: características electroclínicas en 35 pacientes.

AIMS: The purpose of this study is to report on 35 patients with Angelman syndrome (AS) in whom we evaluated the electroclinical characteristics and the progression of their epilepsy. PATIENTS AND METHODS: The following factors were evaluated: sex, family background, neurological examination, age at onset and semiology of the epileptic seizures, EEG, types of epilepsy according to the international classification and response to therapy. We investigated the karyotype, and conducted FISH and methylation tests for AS. RESULTS: The 35 patients had an average follow up time of 5.6 years. Epilepsy was diagnosed in 25 cases, with an average age of onset of 1.6 years. The epileptic syndromes were: epilepsy with myoclonic seizures in 13, of which seven presented a myoclonic state in their history, focal epilepsy in seven, West's syndrome in three, and Lennox Gastaut syndrome in two. Intercritical EEG showed generalised MSW and SW paroxysms in 13, unilateral spikes in seven, hypsarrhythmia in three, generalised fast rhythm paroxysms and slow SW activity in two. Basal electroencephalographic activity was: slow hypervoltage waves with or without inserted spikes situated at the rear in 19, at the front in six, diffuse in six, and normal in four cases. CONCLUSIONS: 71.4% of patients with AS suffered epileptic seizures; epilepsy with myoclonic seizures was the most frequently observed epileptic syndrome and hypervoltage slow wave activity with or without spikes inserted in the posterior quadrants was a characteristic encephalographic pattern. In patients with mental retardation, with or without epilepsy and these electroencephalographic findings, even in the absence of characteristic clinical signs, methylation and FISH analyses for AS should be performed.

Síndrome de Angelman: características electroclínicas en 35 pacientes / Angelman syndrome: the electroclinical characteristics in 35 patients

Objetivo. Presentar 35 pacientes con síndrome de Angelman (SA) en los que se evaluaron las características electroclínicas y el curso evolutivo de la epilepsia. Pacientes y métodos. Evaluamos: sexo, historia familiar, examen neurológico, edad de inicio y semiología de las crisis epilépticas, EEG, tipos de epilepsia de acuerdo a la clasificación internacional y respuesta al tratamiento. Investigamos cariotipo, FISH y test de metilación para SA. Resultados. Los 35 pacientes tuvieron un tiempo promedio de seguimiento de 5,6 años. La epilepsia se diagnosticó en 25 casos, con una mediana para la edad de inicio de 1,6 años. Los síndromes epilépticos fueron: epilepsia con crisis mioclónicas en 13, de los cuales siete presentaron estado miocló nico en su evolución, epilepsia focal en siete, síndrome de West en tres, síndrome de Lennox-Gastaut en dos. El EEG intercrítico mostró paroxismos generalizados de PPO y PO en 13, espigas unilaterales en siete, hipsarritmia en tres, paroxismos generalizados de ritmos rápidos y actividad de PO lenta en dos. La actividad electroencefalográfica basal fue: ondas lentas hipervoltadas con o sin espigas intercaladas de localización posterior en 19, anterior en seis, difusas en seis; y normal, cuatro casos. Conclusiones. El 71,4 por ciento de los pacientes con SA tuvieron crisis epilépticas; la epilepsia con crisis mioclónicas fue el síndrome epiléptico más frecuente y la actividad de OL hipervoltadas con o sin espigas intercaladas en cuadrantes posteriores fue patrón electroencefalográfico característico. En pacientes con retraso mental, con o sin epilepsia y estos hallazgos electroencefalográficos, aun en ausencia de signos clínicos característicos, deberíamos realizar test de metilación y FISH para SA (AU)

Aims. The purpose of this study is to report on 35 patients with Angelman syndrome (AS) in whom we evaluated the electroclinical characteristics and the progression of their epilepsy. Patients and methods. The following factors were evaluated: sex, family background, neurological examination, age at onset and semiology of the epileptic seizures, EEG, types of epilepsy according to the international classification and response to therapy. We investigated the karyotype, and conducted FISH and methylation tests for AS. Results. The 35 patients had an average follow-up time of 5.6 years. Epilepsy was diagnosed in 25 cases, with an average age of onset of 1.6 years. The epileptic syndromes were: epilepsy with myoclonic seizures in 13, of which seven presented a myoclonic state in their history, focal epilepsy in seven, West's syndrome in three, and Lennox-Gastaut syndrome in two. Intercritical EEG showed generalised MSW and SW paroxysms in 13, unilateral spikes in seven, hypsarrhythmia in three, generalised fast-rhythm paroxysms and slow SW activity in two. Basal electroencephalographic activity was: slow hypervoltage waves with or without inserted spikes situated at the rear in 19, at the front in six, diffuse in six, and normal in four cases. Conclusions. 71.4% of patients with AS suffered epileptic seizures; epilepsy with myoclonic seizures was the most frequently observed epileptic syndrome and hypervoltage slow wave activity with or without spikes inserted in the posterior quadrants was a characteristic encephalographic pattern. In patients with mental retardation, with or without epilepsy and these electroencephalographic findings, even in the absence of characteristic clinical signs, methylation and FISH analyses for AS should be performed (AU)

[Reflex myoclonic epilepsy in infancy: a new reflex epilepsy syndrome or a variant of benign myoclonic epilepsy in infancy]. / Epilepsia mioclónica refleja del lactante: un nuevo síndrome epiléptico reflejo o una variante de la epilepsia mióclonica benigna del lactante.

CASE REPORTS: We report a clinical and EEG study of 8 children with reflex myoclonic epilepsy of infancy to further confirm the existence of this syndrome first described by Ricci et al in 1995. RESULTS: Between February 1990 to July 2002, we identified 64 epileptic patients with myoclonic seizures with an onset in the first six years of life. Eight (12.5%) of these patients had myoclonic seizure stimuli sensible. The seizures were characterized by generalized, myoclonic jerks triggered by tactile stimuli in six patients and acoustic stimuli in two, in one of them myoclonic jerks were triggered by both types of stimuli. The seizures appeared between 5 and 20 months of age. Two of the 8 patients had spontaneous myoclonic attacks during sleep. Interictal EEG was normal during wakefulness and occasional discharges were evident during sleep. In contrast, the ictal EEG during both wakefulness and sleep showed generalized spike wave and polyspike slow wave paroxysms. Neurologic examination, neuroimaging and neurometabolic studies were normal. Myoclonic jerks disappeared in 6 patients after valproic acid administration and in two after clobazan administration. Antiepileptic treatment was discontinued in 6 patients and no seizure recurrence was observed during a median follow up of 6 years. CONCLUSION: Our patients presented electro clinical criteria compatible with the syndrome of reflex myoclonic epilepsy of infancy. This syndrome could be considered to be a new reflex epileptic syndrome or a variant of benign myoclonic epilepsy in infancy.

Epilepsia mioclónica refleja del lactante: un nuevo síndrome epiléptico reflejo o una variante de la epilepsia mioclónica benigna del lactante / Reflex myoclonic epilepsy in infancy: a new reflex epilepsy syndrome or a variant of benign myoclonic epilepsy in infancy

Casos clínicos. Analizamos ocho pacientes con un cuadro electroclínico compatible con una epilepsia mioclónica refleja del lactante, a fin de ratificar la existencia de este síndrome, descrito inicialmente por Ricci et al en 1995. Resultados. Durante el período comprendido entre febrero de 1990 y julio de 2002, identificamos 64 pacientes epilépticos con crisis mioclónicas de comienzo en los seis primeros años de vida, de los que ocho (12,5 por ciento) tuvieron mioclonías de estímulo sensible. Los ocho pacientes presentaron un examen neurológico normal, con mioclonías generalizadas provocadas ante estímulos táctiles en seis pacientes y auditivos en dos. En uno de ellos las mioclonías se desencadenaron por ambos tipos de estímulos. Las crisis se iniciaron entre los 5 y los 20 meses de vida. Dos de ellos tuvieron sacudidas espontáneas durante el sueño. El electroencefalograma (EEG) intercrítico en vigilia fue normal, y durante el sueño se registraron ocasionales paroxismos de puntas y polipunta-onda lentas. El EEG crítico en sueño y vigilia mostró actividad de punta y polipunta-onda lenta generalizada. Los estudios de neuroimagen y neurometabólicos fueron normales. Las miclonías cedieron rápidamente con la administración de ácido valproico en seis pacientes y clobazam en dos. Tras un seguimiento promedio de seis años, seis niños están sin medicación y libres de crisis. Conclusión. Nuestros pacientes cumplen criterios clinicoelectroencefalográficos compatibles con la epilepsia mioclónica refleja del lactante, por lo cual pensamos que podría considerarse un nuevo síndrome epiléptico reflejo o una variante de la epilepsia mioclónica benigna del lactante (AU)

Case reports. We report a clinical and EEG study of 8 children with reflex myoclonic epilepsy of infancy to further confirm the existence of this syndrome first described by Ricci et al in 1995. Results. Between February 1990 to July 2002, we identified 64 epileptic patients with myoclonic seizures with an onset in the first six years of life. Eight (12.5%) of these patients had myoclonic seizure stimuli sensible. The seizures were characterized by generalized, myoclonic jerks triggered by tactile stimuli in six patients and acoustic stimuli in two, in one of them myoclonic jerks were triggered by both types of stimuli. The seizures appeared between 5 and 20 months of age. Two of the 8 patients had spontaneous myoclonic attacks during sleep. Interictal EEG was normal during wakefulness and occasional discharges were evident during sleep. In contrast, the ictal EEG during both wakefulness and sleep showed generalized spike-wave and polyspike slow-wave paroxysms. Neurologic examination, neuroimaging and neurometabolic studies were normal. Myoclonic jerks disappeared in 6 patients after valproic acid administration and in two after clobazan administration. Antiepileptic treatment was discontinued in 6 patients and no seizure recurrence was observed during a median follow up of 6 years. Conclusion. Our patients presented electro-clinical criteria compatible with the syndrome of reflex myoclonic epilepsy of infancy. This syndrome could be considered to be a new reflex epileptic syndrome or a variant of benign myoclonic epilepsy in infancy (AU)

Atypical evolution in childhood epilepsy with occipital paroxysms (Panayiotopoulos type).

We report, on two, school-age girls with clinical and electroencephalographic features of early onset childhood epilepsy with occipital paroxysms (CEOP) of the "Panayiotopoulos type" that showed atypical evolution. Neurological examination and brain imaging were normal in both. One child presented at age 2.5 years episodes of oculocephalic deviation, and ictal vomiting during nocturnal sleep. The EEG showed left occipital spikes during wakefulness and sleep. One year later, frequent inhibitory seizures appeared in the lower limbs causing, "pseudoataxic gait". At the same time she presented with behavioral disturbances and aphasia. EEG showed bilateral spike-waves while awake and continuous spike-waves during slow sleep (CSWSS). After switching AEDs to benzodiazepines, control of seizures along with improvement of behavior, and partial restoration of cognitive functions were achieved. The CSWSS disappeared and the last EEG at age 8 years only showed only isolated right occipital spikes. The other girl had a personal and familial history of febrile seizures. At 4 years of age she presented the first non-febrile seizures during sleep, with oculocephalic deviation and ictal vomiting, followed by a generalized tonic-clonic seizure. Partial control of seizures was obtained with antiepileptic drugs. At age 7, the child began to have weekly episodes of oculocephalic version, occasionally with secondary generalization. Repeated inhibitory seizures and absences also appeared. EEG showed frequent bilateral spikes occupying predominantly the posterior regions while awake, and CSWSS. At 7.5 years the same electro-clinical picture persisted. Ethosuximide was added to sodium valproate and clobazam. Fifteen days later, the seizures disappeared and the EEG showed less frequent bilateral occipital spikes. She is now 9 years old and she has been seizure-free for 18 months. Her present neuropsychological profile shows mild mental retardation. The two children with typical electroclinical features of "Panayiotopoulos Type" CEOP developed an atypical evolution which, to our knowledge, has not been described previously.

Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome.

The syndrome of benign familial infantile convulsions (BFIC) is an autosomal dominant epileptic disorder that is characterized by convulsions, with onset at age 3-12 mo and a favorable outcome. BFIC had been linked to chromosome 19q, whereas the infantile convulsions and choreoathetosis (ICCA) syndrome, in which BFIC is associated with paroxysmal dyskinesias, had been linked to chromosome 16p12-q12. BFIC appears to be frequently associated with paroxysmal dyskinesias, because many additional families from diverse ethnic backgrounds have similar syndromes that have been linked to the chromosome 16 ICCA region. Moreover, one large pedigree with paroxysmal kinesigenic dyskinesias only, has also been linked to the same genomic area. This raised the possibility that families with pure BFIC may be linked to chromosome 16 as well. We identified and studied seven families with BFIC inherited as an autosomal dominant trait. Genotyping was performed with markers at chromosome 19q and 16p12-q12. Although chromosome 19q could be excluded, evidence for linkage in the ICCA region was found, with a maximum two-point LOD score of 3.32 for markers D16S3131 and SPN. This result proves that human chromosome 16p12-q12 is a major genetic locus underlying both BFIC and paroxysmal dyskinesias. The unusual phenotype displayed by one homozygous patient suggests that variability of the ICCA syndrome could be sustained by genetic modifiers.

Panayiotopoulos-type benign childhood occipital epilepsy: a prospective study.

OBJECTIVE: To characterize the clinical and EEG features of the syndrome of benign childhood partial seizures with ictal vomiting and EEG occipital spikes (Panayiotopoulos syndrome [PS]). METHODS: Prospective study of children with normal general and neurologic examinations who had seizures with ictal vomiting and EEG with occipital spikes. RESULTS: From February 1990 to 1997, the authors found 66 patients with PS and 145 children with benign childhood epilepsy with centrotemporal spikes. Peak age at onset of PS was 5 years. Ictal deviation of the eyes and progression to generalized seizures were common. One-third had partial status epilepticus. During sleep, all had seizures. While awake, one-third also had seizures. Five children with PS had concurrent symptoms of rolandic epilepsy and another five developed rolandic seizures after remission of PS. Prognosis was excellent: one-third had a single seizure, one-half had two to five seizures, and only 4.5% had frequent seizures. CONCLUSIONS: Panayiotopoulos-type benign childhood occipital epilepsy is less common than benign childhood epilepsy with centrotemporal spikes but is well defined and recognizable by clinical and EEG features.