[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

[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.

[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.

[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).

[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.

[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.

[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.

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.

Focal polymicrogyria in mother and son.

This 9-year-old boy was admitted at the age of 2 with a diagnosis of congenital hemiparesis while the rest of physical and neurological examination was normal. His score in the Wechsler intelligence scale was 80. Right fronto-parietal cortical dysplasia with hemisphere atrophy was evident by computerized tomography scanning and magnetic resonance imaging. The latter, also disclosed abnormal thick cortex which was interpreted as polymicrogyria or pachygyria. Karyotype was normal. He had a hemifacial motor seizure at the age of 7. At the age of 8 frequent atonic or inhibitory seizures were presented. Asymmetric bilateral spike discharges with high voltage in the right hemisphere during the EEG recording were found. His mother, a 35-year-old woman (Full scale; Adult intelligence scale: 85) also had congenital hemiparesis. She never had seizures and her EEG was normal. Magnetic resonance imaging disclosed right fronto-parietal cortical dysplasia with ipsilateral hemisphere atrophy. Karyotype was normal. Our cases should be interpreted as a familial presentation of the anomaly, probably with autosomal-dominant transmission.

Vigabatrin as a first-choice drug in the treatment of West syndrome.

This is a prospective study designed to evaluate the efficacy and safety of vigabatrin as first-choice monotherapy in infants with West syndrome. One hundred sixteen patients with newly diagnosed West syndrome were studied in Argentina, from June 1994 to April 1998. The follow-up ranged from 17 to 40 months (mean, 23 months). Vigabatrin was administered upon diagnosis, starting with a 50-mg/kg/day dose and increasing 50 mg/kg every 48 hours to reach a maximum dose of 200 mg/kg/day. Twenty-nine percent of cases were considered to be cryptogenic or idiopathic West syndrome, while 70.7% were symptomatic. Response to vigabatrin treatment was measured according to five categories: (1) seizures free: 61.8% of cases for cryptogenic and 29.3% for symptomatic West syndrome, (2) more than 75% reduction in the number of infantile spasms: 14.7% for cryptogenic and 26.8% for symptomatic West syndrome, (3) from 50% to 74% reduction in the number of infantile spasms: 11.8% for cryptogenic and 24.4% for symptomatic West syndrome, (4) poor or null response: 11.8% for cryptogenic and 18.3% for symptomatic West syndrome, and (5) increase in the number of infantile spasms: one symptomatic case (1.2%). All seizure-free cryptogenic cases showed normal neuropsychic development. The most effective dose of vigabatrin was 150 mg/kg of body weight per day. The most frequent adverse events were somnolence in 19 cases and irritability in 15 cases, but none required treatment interruption.

A particular type of epilepsy in children with congenital hemiparesis associated with unilateral polymicrogyria.

PURPOSE: Polymicrogyria (PMG) is often associated with symptomatic focal epilepsy and neurologic dysfunction. We investigated the clinical and laboratory features of a group of children with congenital hemiparesis, unilateral polymicrogyria on magnetic resonance imaging (MRI), and a peculiar epileptic syndrome. METHODS: Twelve patients (seven girls and five boys) with a mean age of 7.8 years (range, 5-13 years) were studied. All patients underwent clinical evaluation, computed tomography (CT) and MRI scanning, and neuropsychological assessment at initial examination. Patients were followed up from 1 to 7 years (mean, 4.5 years). RESULTS: Partial motor seizures with secondary generalization with onset between age 1 and 6 years (mean age, 2 years) were recorded in all patients. The course of epilepsy was similar in all patients with development of atypical absences, negative myoclonus, and gait difficulties. EEG recording demonstrated continuous spike-wave or bilateral abnormality throughout. Frequent relapses of the atonic and myoclonic seizures were seen in seven patients. However, during follow-up, seven patients were seizure free, and the others have not developed this particular seizure pattern. A single case underwent cortical resection 23 months ago and has had no seizures since then. Mental retardation was mild in nine and moderate in three patients. CONCLUSIONS: Children with unilateral polymicrogyria may develop a syndrome of negative myoclonus seizures that appears to be age specific and responsive to antiepileptic drug (AED) treatment. Despite limited follow-up time, a good outcome was observed in most cases.

[Benign partial convulsions in adolescence]. / Convulsiones parciales benignas de la adolescencia.

INTRODUCTION: Loiseau and Orgogozo first described benign partial convulsions of adolescence (BPCA). OBJECTIVE: To analyze the clinical and electroencephalographic characteristics of adolescent patients diagnosed as having BPCA. PATIENTS AND METHODS: We reviewed the clinical histories of 125 patients with onset of partial epilepsy between the ages of 10 and 18 years, followed-up at the J.P. Garrahan Hospital, Buenos Aires, between 1990 and 1997. Fourteen of these patients fulfilled diagnostic criteria for BPCA. We analyzed the following clinical and electroencephalographic parameters: sex, personal and family history, age of onset, semiology, distribution, duration and frequency of crises, neurological examination, neuro-images (brain CT/MR) using conventional techniques, time of follow-up and evolution. RESULTS: Ten patients were boys (71.4%) and four girls (28.6%). The follow-up period was from one to seven years (average 3.1 years). Convulsions had started at between 10 and 16 years old, average 12 years old, with a peak of maximum incidence at between 12 and 13 years old. The crises were of partial simple type in 12 patients (85.7%) and partial complex type in 2 (14.3%); nine cases had secondarily generalized tonic-clonic convulsions (64.2%). Crises were brief in 100%, in 13 cases (93%) they occurred whilst awake and in one case (7%) during sleep. CONCLUSIONS: BPCA occur in a transient condition which affects males more often than females, has a peak onset at between 12 and 13 years of age and is characterized by simple motor partial crises, frequently with secondary generalization, single or inclusters, during waking and is of a benign course. Neurological examination, EEG between crises and neuro-radiological studies were normal.

[Cerebral magnetic resonance in the study of West syndrome]. / Resonancia magnética cerebral en el estudio del síndrome de West.

INTRODUCTION AND OBJECTIVE: West's syndrome (WS) is an epileptic encephalopathy of the first year of life, associated with different aetiologies. MRI of the brain allows precise determination of the type and extent of the lesions. The aetiology must be recognised in order to establish the prognosis and a suitable therapeutic approach. The objective of this study is to analyse the aetiologies of a population of children with WS and compare the results of cases diagnosed before and after using MRI. PATIENTS AND METHODS: We analyzed the clinical histories of 448 patients fulfilling the diagnostic criteria for WS (infantile spasms and a EEG with a pattern of hypsarrhythmia), 217 in pre-MRI era (group 1) and 231 in the post-MRI era (group 2). The following parameters were analyzed: type of WS, sex, duration of follow-up, age of onset of infantile spasms and particularly the neuroradiological studies. RESULTS: Group 1: symptomatic WS, 157 patients; cryptogenic WS, 60 patients. Group 2: symptomatic WS, 169 patients; cryptogenic WS, 62 patients. The aetiologies of symptomatic WS were: cortical dysplasias, neurocutaneous disorders, cerebral malformation and prenatal clastic lesions, hypoxic ischaemia, post-infection, metabolic, tumors, Down's syndrome, others and unknown cause. CONCLUSIONS: It is known that cerebral MRI gives better definition of these types of cerebral lesions than cerebral CT does. We emphasize the importance of MRI in patients with symptomatic WS for precise determination of the aetiology, and speculate as to whether some of the 21 cases of unknown aetiology of group 1 could have been diagnosed if studied nowadays.

[Acquired epileptic aphasia]. / Afasia epiléptica adquirida.

OBJECTIVE: To evaluate clinical and EEG features, as well as treatment and progression in fifteen patients with a diagnosis of acquired epileptic aphasia. PATIENTS AND METHODS: The population comprised nine male and six female patients, whose mean age was 14.5 (r = 8.11-20 years). All were on routine antiepileptic drugs. Inclusion criteria were acute, subacute or chronic aphasia, lacking signs of motor deficit or demonstrable brain lesion, but displaying bilateral spikes or generalized spike-wave discharges. Throughout, sleep and waking EEG, neuroimaging, brainstem auditory evoked potentials and neuro-psychological evaluations were performed. Cortical brainstem auditory evoked potentials were carried out in ten cases. RESULTS: Median age at onset of verbal auditory agnosia was 5.6 years (r = 1.1-8.6 years), which eleven cases developed epileptic seizures at a median age of five years. Waking and sleep EEG were abnormal but brainstem auditory evoked potentials were normal throughout. Cortical brainstem auditory evoked potentials in ten patients displayed P300 wave and vertex potential alterations. Five cases received 1-3 mg/kg/day prednisone during 6-12 months, with almost complete speech recovery in four. At the last follow-up, language impairment was mild in five patients, moderate in five and severe in three, while two children recovered normal speech. CONCLUSIONS: Early acquired epileptic aphasia treatment is advisable with valproic acid, benzodiazepines or ethosuximide alone or in combinations, supplementary with corticoids for at least six months in the absence of clinical response and/or EEG improvement. Globally, seven out of fifteen patients overcame their speech disorder.

[Benign neonatal sleep myoclonus]. / Mioclonías neonatales benignas del sueño.

OBJECTIVE: To evaluate the clinical, electro-encephalographic and evolutionary characteristics of a series of patients diagnosed as having benign neonatal sleep myoclonus (BNSM). MATERIAL AND METHODS: The clinical histories of 21 patients with BNSM were analyzed. Criteria for inclusion in the study were: neonates who had had more than one episode of myoclonia during sleep and in whom neurological examination and psychomotor development were normal. CRITERIA FOR EXCLUSION: Patients with myoclonia while awake, a perinatal history which included significant pathology and/or the diagnosis of epilepsy. The period of evolution varied from 6 months to 5 years, and the following parameters were considered: clinical features of the myoclonia, neurological examination, psychomotor development and evolution. EEG were done between crises in all patients. In 5 cases we recorded EEG during crises and in 2 cases video-EEG were done. RESULTS: The study group was made up of 11 girls and 10 boys. The myoclonia started between the first and twenty third day of age (average = 7 days). Fifteen (71.4%) of the patients had generalized myoclonia, mainly in the distal part of the upper limbs in 13 and in the lower limbs in two. In 20 cases (95.2%) jerking was of short duration, lasting 10 to 20 seconds. In one case, the jerks were repeated in series lasting 30 minutes. Two patients later developed benign myoclonia of early infancy. The myoclonia disappeared before the age of 7 months in all cases. CONCLUSIONS: BNSM is seen in healthy newborns and disappear spontaneously during the first months of live. Differential diagnosis with epileptic seizures is imperative in order to avoid unnecessary medication.