RESUMEN
AIM: The aim of this study was to analyze electroclinical features of a group of patients with West syndrome (WS) who subsequently developed Lennox-Gastaut syndrome (LGS) during the transition between both syndromes. METHODS: A retrospective and descriptive study was conducted of a series of patients diagnosed with WS who developed LGS seen at Hospital de Pediatría Prof. Dr. JP Garrahan between January 2012 and January 2019. The medical charts of 170 patients with WS were analyzed. In 63 (37 %) of the children WS evolved to LGS. RESULTS: During the transition from WS to LGS four well-defined electroclinical patterns were recognized. The first corresponded to a group of patients with multiple seizure types, including epileptic spasms associated with multifocal paroxysms; the electroclinical pattern in second group showed mainly focal seizures associated with focal discharges in the EEG; the third group showed predominance of epileptic spasms and myoclonic seizures associated with diffuse spike-and-wave and polyspike-and-wave paroxysms; and the remaining group was characterized by a mixed electroclinical pattern including features of the other three groups. All patients had a neuropsychological deficit. Worsening of cognition and behavior was observed during the transition period in 11, 8, and 5 patients of groups 1, 3, and 4, respectively. CONCLUSION: Our study of the transition period from WS to LGS allowed us to recognize four well-defined electroclinical patterns. The early recognition of the different patterns could, in the future, support a more precocious prognostic evaluation.
Asunto(s)
Epilepsias Mioclónicas/fisiopatología , Discapacidad Intelectual/fisiopatología , Síndrome de Lennox-Gastaut/fisiopatología , Espasmos Infantiles/fisiopatología , Niño , Preescolar , Cognición/fisiología , Electroencefalografía/métodos , Epilepsias Mioclónicas/complicaciones , Femenino , Humanos , Lactante , Discapacidad Intelectual/complicaciones , Síndrome de Lennox-Gastaut/complicaciones , Masculino , Estudios Retrospectivos , Convulsiones/diagnóstico , Espasmos Infantiles/complicacionesRESUMEN
Abstract Introduction: the Aicardi syndrome (SA) is characterized as a rare syndrome identified in the presence of three classic characteristics: corpus callosum agenesis, chorioretinal lacunaeand infantile spasms. Description: data collection involved information reported by the mother and the accompanying physiotherapist describing the patient's clinical history andmajor complications according to clinical evolution, treatment, and therapeutic response. At two months of age, the child presented a delayed neuropsychomotor development and infantile spasms.However,the diagnosis of the syndrome was only performed at six months of life, involving brain magnetic resonance imaging where corneal body agenesis was observed. A multidisciplinary treatment was assembledwith a neuropediatrician, a physiotherapist, a psychologist, a nutritionistand a speech therapist, besides drug treatment with baclofen and phenobarbital. Discussion: through the established treatment, the child displayedmotor gain, cervical control, improvement of the respiratory condition, and no need forhospital admissions;these outcomescharacterizea good clinical evolution associated with the physiotherapeutic intervention focused on prevention and minimization of respiratory alterationsthatare frequently associated with morbidity and mortality in these cases. The results obtained point out the fundamental role of multidisciplinary intervention in coping with this condition.
Resumo Introdução: a Síndrome de Aicardi (SA), caracteriza-se como uma síndrome rara identificada na presença das três características clássicas: agenesia de corpo caloso, lacunas coriorretinianas e espamos infantis. Descrição: a coleta de dados envolveu informações relatadas pela genitora e pelo fisioterapeuta acompanhante da paciente, descrevendo assim a história clínica da paciente, as principais complicações de acordo com a evolução clínica, o tratamento e resposta terapêutica. Aos dois meses de idade a criança apresentou atraso no desenvolvimento neuropsicomotor e espasmos infantis, porém o diagnóstico da síndrome foi realizado somente aos seis meses de vida envolvendo um exame de ressonância magnética de encéfalo onde foi observada agenesia de corpo caloso, iniciando-se tratamento multidisciplinar com neuropediatra, fisioterapeuta, psicólogo, nutricionista e fonoaudiólogo, além do tratamento medicamentoso com baclofeno e fenobarbital. Discussão: através do tratamento estabelecido, a criança obteve ganho motor, controle cervical, melhora da condição respiratória e sem internações hospitalares, caracterizando uma boa evolução associada particularmente à intervenção fisioterapêutica que teve enfoque na prevenção e minimização de alterações respiratórias frequentemente associadas à morbidades e mortalidade nestes casos. Os resultados obtidos apontam o papel fundamental da intervenção multidisciplinar para o enfrentamento desta condição.
Asunto(s)
Humanos , Lactante , Síndrome de Aicardi/complicaciones , Síndrome de Aicardi/diagnóstico , Síndrome de Aicardi/tratamiento farmacológico , Fenobarbital/uso terapéutico , Espasmos Infantiles/complicaciones , Baclofeno/uso terapéutico , Espectroscopía de Resonancia Magnética , Coriorretinitis , Agenesia del Cuerpo CallosoRESUMEN
West syndrome or infantile spasms is an epileptic encephalopathy, classified as generalized epilepsies and syndromes. There are multiple reports of the evolution from West to Lennox-Gastaut syndrome of 25 up to 60%, without a specific cause is determined. It has been reported that they may be only an epileptic entity age dependent that it would be in relation to the degree of brain immaturity. In this retrospective review of 130 cases of West syndrome, only 14 (10.7%) evolved to Lennox-Gastaut. Having received in all cases vigabatrin as a treatment, makes us suppose that the low incidence could be related to the use of this drug. Given that vigabatrin has a gabaergic action and increased levels of ACTH, may explain this relationship but this must be confirmed with the best knowledge of the intimate mechanisms of these serious epileptic encephalopathies.
Asunto(s)
Síndrome de Lennox-Gastaut/etiología , Espasmos Infantiles/complicaciones , Anticonvulsivantes/uso terapéutico , Progresión de la Enfermedad , Electroencefalografía , Femenino , Humanos , Lactante , Síndrome de Lennox-Gastaut/diagnóstico , Síndrome de Lennox-Gastaut/tratamiento farmacológico , Imagen por Resonancia Magnética , Metilprednisolona/uso terapéutico , Estudios Retrospectivos , Espasmos Infantiles/diagnóstico , Espasmos Infantiles/tratamiento farmacológico , Síndrome , Vigabatrin/uso terapéuticoRESUMEN
El síndrome de West o espasmos infantiles, es una encefalopatía epiléptica clasificada como epilepsias y síndromes generalizados. Hay múltiples informes de la evolución de síndrome de West a síndrome de Lennox-Gastaut de un 25 hasta 60%, sin reconocerse una causa específica. Se ha comunicado que pueden ser solo una entidad epiléptica dependiente de la edad y que estaría en relación con el grado de inmadurez cerebral. En esta revisión retrospectiva de 130 casos de espasmos infantiles, solo 14 (10.7%) evolucionaron a Lennox-Gastaut. El haber recibido en todos los casos vigabatrina como tratamiento nos hace suponer que la baja incidencia podría estar relacionada con el uso de este fármaco. Dado que la vigabatrina tiene una acción gabaérgica y aumenta los niveles de ACTH podría explicar esta relación, pero esto deberá confirmarse con el mejor conocimiento de los mecanismos íntimos de estas graves encefalopatías.
West syndrome or infantile spasms is an epileptic encephalopathy, classified as generalized epilepsies and syndromes. There are multiple reports of the evolution from West to Lennox-Gastaut syndrome of 25 up to 60%, without a specific cause is determined. It has been reported that they may be only an epileptic entity age dependent that it would be in relation to the degree of brain immaturity. In this retrospective review of 130 cases of West syndrome, only 14 (10.7%) evolved to Lennox-Gastaut. Having received in all cases vigabatrin as a treatment, makes us suppose that the low incidence could be related to the use of this drug. Given that vigabatrin has a gabaergic action and increased levels of ACTH, may explain this relationship but this must be confirmed with the best knowledge of the intimate mechanisms of these serious epileptic encephalopathies.
Asunto(s)
Humanos , Femenino , Lactante , Espasmos Infantiles/complicaciones , Síndrome de Lennox-Gastaut/etiología , Espasmos Infantiles/diagnóstico , Espasmos Infantiles/tratamiento farmacológico , Síndrome , Metilprednisolona/uso terapéutico , Imagen por Resonancia Magnética , Estudios Retrospectivos , Progresión de la Enfermedad , Vigabatrin/uso terapéutico , Electroencefalografía , Síndrome de Lennox-Gastaut/diagnóstico , Síndrome de Lennox-Gastaut/tratamiento farmacológico , Anticonvulsivantes/uso terapéuticoRESUMEN
Introducción: la incontinencia pigmenti es una genodermatosis rara ligada al cromosoma X, afecta al sexo femenino y tiene diferentes expresiones clínicas en una misma familia. Presentación del caso: preescolar de 20 meses de edad, con antecedente familiar de incontinencia pigmenti, que presentó lesiones típicas en la piel desde la primera semana de vida, de aspectos lineales, vesículo-costro-ampollosas, verrucosas, y luego hiperpigmentadas, en diferentes fases y múltiples brotes. Comienza desde el primer mes de vida con crisis epilépticas que evoluciona a una encefalopatía de West, con buena respuesta a la vigabatrina y control de los espasmos infantiles. Conclusiones: la incontinencia pigmenti se caracteriza por afectar, de forma variable, a los tejidos derivados del neuroectodermo, la piel y otras faneras, ojos y el sistema nervioso central, provoca daño multisistémico. Las lesiones de la piel son las más significativas desde el nacimiento, y la biopsia de piel confirma el diagnóstico(AU)
Introduction: incontinentia pigmenti is a rare genodermatosis linked to the X chromosome. It affects the female sex and has different clinical manifestations in the same family. Case presentation: a 20-month-old infant with a family history of incontinentia pigmenti, who from the first week of life presented typical lesions on the skin of linear, vesicular-crust-bullous, warty, and then hyperpigmented aspects, in different phases and multiple outbreaks. From the first month of life, the patient presented epileptic seizures that evolved to West encephalopathy, with good response to vigabatrin and control of infantile spasms. Conclusions: incontinentia pigmenti is characterized by affecting, in a variable way, the tissues derived from the neuroectoderm, the skin and other skin´s structures, the eyes and the central nervous system causing multisystem damage. Skin lesions are the most significant since birth, and skin biopsy confirms the diagnosis(AU)
Asunto(s)
Humanos , Femenino , Lactante , Enfermedades Genéticas Ligadas al Cromosoma X/genética , Trastornos de la Pigmentación/complicaciones , Espasmos Infantiles/complicaciones , Vigabatrin/uso terapéuticoRESUMEN
UNLABELLED: The aim of this study was to analyze the electroclinical features and evolution in patients with benign infantile seizures (BIS) associated with paroxysmal dyskinesia (PD). PATIENTS AND METHODS: Among 198 patients with BIS (78 of whom were familial cases), we evaluated 12 unrelated patients with BIS and PD seen at two pediatric neurology departments from January 1990 to February 2009. RESULTS: The patients were eight boys and four girls, one of whom was not a familial case. The time of follow-up was between 6 and 19 years. Median age at onset of epilepsy was 7 months (R: 5-18 m). Seizures were brief, focal, with or without secondary generalization, and occurred in clusters in 58% of the cases. Seven of 12 patients with BIS and 13 family members had PD. The age at onset of PD was between 5 and 18 years and it was characterized by choreoathetosis in 12 and dystonia in 8. PD was kinesigenic in all cases. As to family history, BIS was found in mothers in two patients, in fathers in five, in a grandfather in one, in grand-uncle in one, in uncles in four, in brothers in three, and in sisters in three other patients. PD was found in fathers in four patients, in the mother in one, in a brother in one, in a cousin in three, in an uncle in one, in an aunt in one, and in grandfathers in two. During follow-up, one patient and a relative with BIS from two different families presented Rolandic epilepsy. The father of the case with BIS and Rolandic epilepsy also had BIS and benign focal seizures of adolescence. CONCLUSIONS: BIS and PD syndrome is a well-defined familial syndrome. BIS had the similar features described in patients with familial and non-familial BIS. The patient with non-familial BIS who developed PD later, suggests that non-familial forms may have a genetic cause and may be caused by de novo mutations.
Asunto(s)
Corea/complicaciones , Corea/genética , Espasmos Infantiles/congénito , Adolescente , Niño , Preescolar , Corea/diagnóstico , Electroencefalografía , Epilepsia Benigna Neonatal , Femenino , Estudios de Seguimiento , Humanos , Lactante , Masculino , Linaje , Espasmos Infantiles/complicaciones , Espasmos Infantiles/diagnóstico , Espasmos Infantiles/genética , SíndromeRESUMEN
UNLABELLED: In this study, we present the electroclinical features and evolution of patients with epileptic spasms (ES) in clusters without hypsarrhythmia and with or without focal or generalized paroxysmal discharges on the interictal EEG. We also discuss how to nosologically define these cases. METHODS: Between February 1, 1990, and December, 2009, sixteen patients met the electroclinical diagnostic criteria of ES in clusters without hypsarrhythmia. RESULTS: ES were cryptogenic in thirteen patients and symptomatic in three. Age at onset of ES was between 4 months and 30 months, with a mean age of 9 months and a median age of 7 months. Seven patients had seizures before the onset of ES. Focal spikes were observed in seven patients, bilateral spikes and spikes and waves in five, multifocal spikes in two, and two patients had a normal EEG. The ictal EEG recording showed diffuse high-amplitude slow waves in ten patients, diffuse slow waves followed by voltage attenuation in four patients, and diffuse fast rhythms in two. ES were cured in five patients. Mean follow-up was 6 years. Neuropsychological development has been normal in the five latter patients. Eleven patients continue with seizures refractory to antiepileptic drugs after a mean follow-up of 10 years. Of these eleven patients, five have severe mental retardation, three have moderate mental retardation, and two have mild mental retardation. All of them show behavioral disturbances. CONCLUSION: The patients in this series may be considered to have a variant of West syndrome rather than an electroclinically distinct epileptic syndrome.
Asunto(s)
Espasmos Infantiles/complicaciones , Espasmos Infantiles/fisiopatología , Anticonvulsivantes/uso terapéutico , Preescolar , Electroencefalografía/métodos , Femenino , Estudios de Seguimiento , Humanos , Lactante , Masculino , Estudios Retrospectivos , Convulsiones/diagnóstico , Convulsiones/etiología , Espasmos Infantiles/tratamiento farmacológicoRESUMEN
West syndrome (WS) is a rare, severe form of epilepsy that typically manifests early in infancy. It is considered a malignant condition that combines episodes of spasms that occur in clusters (infantile spasm), hypsarrhythmia on the electroencephalogram, and neuropsychomotor delay. Although WS has been widely investigated from a medical standpoint, few reports have focused on the oral findings in patients with this syndrome. This article reports the case history of a 7-year-old child diagnosed with WS. The major clinical features were generalized tooth wear and gingival enlargement, altered chronology and sequence of dental eruption, primary canine cusp-to-cusp relationship, ectopic dental eruption, and mildly arched palate. Multiple white spot lesions were also observed, possibly associated with poor oral hygiene, due to a fermentable carbohydrate-rich diet, and continuous use of sugar-containing medications. Dental care management of patients with special needs is discussed and the dental treatment for this child with WS is described.
Asunto(s)
Atención Dental para la Persona con Discapacidad , Espasmos Infantiles , Niño , Caries Dental/prevención & control , Restauración Dental Permanente , Femenino , Sobrecrecimiento Gingival/etiología , Humanos , Lactante , Espasmos Infantiles/complicaciones , Síndrome , Erupción Dental , Erupción Ectópica de Dientes/etiología , Desgaste de los Dientes/etiologíaRESUMEN
Aicardi syndrome is a triad of abnormalities that includes total or partial agenesis of the corpus callosum, chorioretinal lacunae, and infantile spasms. This syndrome was first described in 1965. A female infant with Aicardi syndrome associated with a nasoethmoidal cephalocele is described in this report. She presented with a history of unilateral nasal discharge since birth and seizures since age 1 week. She was microcephalic and there was visual impairment. A fleshy mass of the left nostril was noted. Ophthalmological evaluation revealed left exotropia, dysplastic optic discs and retina, 'morning glory' appearance of the left optic disc, and bilateral chorioretinal lacunae. Magnetic resonance imaging of the brain showed absence of the corpus callosum, dysmorphic changes of the lateral ventricles, a superiorly located third ventricle, heterotopic grey matter of the frontal lobes, a left nasoethmoidal cephalocele, and closed lip schizencephaly of the left frontal lobe. This female infant developed asymmetric infantile spasms at age 8 weeks. Surgical correction of the cephalocele was declined. She developed recurrent pneumonias secondary to aspiration of feeds and died at age 8 months during one of these events.
Asunto(s)
Agenesia del Cuerpo Calloso , Coroides/anomalías , Encefalocele/complicaciones , Encefalocele/fisiopatología , Senos Etmoidales/anomalías , Retina/anomalías , Espasmos Infantiles/complicaciones , Ventrículos Cerebrales/patología , Exotropía/complicaciones , Resultado Fatal , Femenino , Lateralidad Funcional/fisiología , Humanos , Recién Nacido , Imagen por Resonancia Magnética , SíndromeRESUMEN
OBJECTIVE: To elucidate factors affecting the developmental outcome of cryptogenic West syndrome. STUDY DESIGN: Medical records of 32 patients, who were followed-up regularly for more than 1 year, were reviewed for clinical features: treatment lag, electroencephalography findings, and seizure evolution. Those features were compared between the normal outcome group (12 patients) and the delayed outcome group (20 patients). The outcomes were determined at the average age of 8.6 +/- 4.7 years. RESULTS: The duration from onset to any treatment of the delayed group was longer than that of the normal group (P < .05). Evolution of electroencephalographic findings showed that paroxysmal discharges reappeared in frontal regions more frequently in the delayed group than in the normal group (P < .05). In the delayed group, other types of seizure except for spasms occurred more commonly than in the normal group (P < .05). More patients of the delayed group evolved to focal epilepsy than those of the normal group (P < .05). CONCLUSIONS: Shorter treatment lag might be associated with a favorable outcome in cryptogenic West syndrome. Reappearance of paroxysmal discharges in the frontal regions and evolution to other types of seizure may be associated with undetectable lesions in the frontal regions.
Asunto(s)
Discapacidades del Desarrollo/epidemiología , Discapacidades del Desarrollo/etiología , Espasmos Infantiles/complicaciones , Espasmos Infantiles/diagnóstico , Distribución por Edad , Niño , Desarrollo Infantil/fisiología , Preescolar , Estudios de Cohortes , Discapacidades del Desarrollo/fisiopatología , Electroencefalografía , Femenino , Estudios de Seguimiento , Humanos , Incidencia , Lactante , Japón/epidemiología , Imagen por Resonancia Magnética , Masculino , Probabilidad , Valores de Referencia , Medición de Riesgo , Índice de Severidad de la Enfermedad , Distribución por Sexo , Estadísticas no Paramétricas , Factores de Tiempo , Tomografía Computarizada por Rayos XRESUMEN
OBJETIVO: é relatar a eficácia da vigabatrina no controle das convulsões, bem como as alterações eletrencefalográficas em crianças com esclerose tuberosa e síndrome de West. MÉTODO: Estudo retrospectivo, com dados clínicos, de neuroimagem e de eletrencefalograma. RESULTADOS: Sete pacientes foram acompanhados e o tempo médio de seguimento foi 10 anos. Dos pacientes, quatro eram do sexo feminino e todos eram de cor branca. A média de idade de início das convulsões foi 3,4 meses. Todos usaram associações de vários anticonvulsivantes; no mínimo duas drogas por esquema terapêutico, e cada paciente utilizou pelo menos dois esquemas diferentes. O uso de vigabatrina como monoterapia ou em associação iniciou em média aos 7 anos de idade ou 4 anos após início dos sintomas. Cinco dos sete pacientes que iniciaram vigabatrina ficaram sem crise. CONCLUSÃO: Vigabatrina mostrou-se eficaz no controle das crises, levando a um melhor prognóstico
Asunto(s)
Humanos , Masculino , Femenino , Recién Nacido , Lactante , Preescolar , Niño , Anticonvulsivantes/uso terapéutico , Epilepsia/tratamiento farmacológico , Espasmos Infantiles/tratamiento farmacológico , Esclerosis Tuberosa/tratamiento farmacológico , Vigabatrin/uso terapéutico , Edad de Inicio , Anticonvulsivantes/farmacología , Electroencefalografía/efectos de los fármacos , Epilepsia/complicaciones , Estudios de Seguimiento , Pronóstico , Estudios Retrospectivos , Espasmos Infantiles/complicaciones , Resultado del Tratamiento , Esclerosis Tuberosa/complicaciones , Vigabatrin/farmacologíaRESUMEN
PURPOSE: To report the efficacy of vigabatrin in seizures control, as well as the electroencephalographic abnormalities in children with tuberous sclerosis and West syndrome. METHOD: Retrospective study, with clinical, neuroimaging, and electroencephalographic data. RESULTS: Seven patients were followed, and the median time of follow-up was 10 years. Four of them were females and all were white. The mean age of seizures onset was 3.4 months. All patients used antiepileptic drugs associations, at least 2 drugs each therapeutic scheme, each one of the patients have used at least two different schemes. Vigabatrin as monotherapy or adjuvant was started in a mean age of seven years or 4 years after the onset of symptoms. Five from seven patients on vigabatrin became seizure free. CONCLUSION: Vigabatrin was efficient in seizures control, leading to a better prognosis.
Asunto(s)
Anticonvulsivantes/uso terapéutico , Espasmos Infantiles/tratamiento farmacológico , Esclerosis Tuberosa/tratamiento farmacológico , Vigabatrin/uso terapéutico , Edad de Inicio , Niño , Preescolar , Electroencefalografía/efectos de los fármacos , Femenino , Estudios de Seguimiento , Humanos , Lactante , Recién Nacido , Masculino , Pronóstico , Estudios Retrospectivos , Espasmos Infantiles/complicaciones , Resultado del Tratamiento , Esclerosis Tuberosa/complicacionesAsunto(s)
Humanos , Lactante , Femenino , Espasmos Infantiles/complicaciones , Cuerpo Calloso/anomalías , Anomalías del Ojo/complicaciones , Espasmos Infantiles/diagnóstico , Espasmos Infantiles/etiología , Coriorretinitis/complicaciones , Coriorretinitis/etiología , Hormona Adrenocorticotrópica/uso terapéutico , Fondo de Ojo , Discapacidad Intelectual/complicaciones , Discapacidad Intelectual/etiologíaRESUMEN
The author presents a review and actualization of West syndrome related knowledges, ethiological issues, clinics, and the EEG tracings. It is also include a literature review about different therapeutic treatments emphasizing the use of vigabatrin.
Asunto(s)
Espasmos Infantiles , Anticonvulsivantes/uso terapéutico , Electroencefalografía , Humanos , Discapacidad Intelectual/complicaciones , Trastornos Psicomotores/complicaciones , Espasmos Infantiles/complicaciones , Espasmos Infantiles/tratamiento farmacológico , Espasmos Infantiles/etiología , Vigabatrin/uso terapéuticoRESUMEN
OBJECTIVE: To evaluate the therapeutic response of West's syndrome (WS) associated with cerebral paralysis (CP) secondary to periventricular leucomalacia (PVL). MATERIAL AND METHODS: We made a retrospective analysis of the clinical histories of 10 patients with SW and CP secondary to periventricular leucomalacia. We studied 10 patients, 9 boys and 1 girl with a current age of between 3 and 11 years, 8 premature newborn babies and two full term new born babies. RESULTS: The infantile spasms (IS) started between the ages of 4-10 months (average age 8.3 months). In 100% of cases they came in runs. In one patient alone they were associated with partial motor crises. EEG showed typical hypsarrhythmia in 8 cases, asymmetrical hypsarrhythmia in 1 case and modified hypsarrhythmia in another case. Seven patients were given ACTH, associated with valproic acid in 4 cases and benzodiazepines in 2 cases. The remaining 3 patients were treated with valproate as the only drug. The IS disappeared and the EEG became normal within 14 days of the start of treatment in 9 patients who remain symptom-free after between 2 and 11.9 years follow-up. In one patient there was partial control of the spasms, and the clinical picture cleared up 10 months after starting treatment with vigabatrine. All 10 patients had spastic quadriplegia. All had mental retardation of between slight and serious degree. The cerebral CT and MR showed signs compatible with PVL and in 3 cases there was associated diffuse cerebral atrophy. CONCLUSIONS: We have found a good electro-clinical response in 10 patients with WS, CP and PVL. The results are in agreement with those of other authors.
Asunto(s)
Anticonvulsivantes/uso terapéutico , Parálisis Cerebral/complicaciones , Parálisis Cerebral/etiología , Leucomalacia Periventricular/complicaciones , Espasmos Infantiles/tratamiento farmacológico , Ácido Valproico/uso terapéutico , Ácido gamma-Aminobutírico/análogos & derivados , Atrofia/diagnóstico por imagen , Atrofia/patología , Parálisis Cerebral/patología , Ventrículos Cerebrales/patología , Niño , Preescolar , Femenino , Humanos , Recién Nacido , Leucomalacia Periventricular/diagnóstico por imagen , Leucomalacia Periventricular/patología , Imagen por Resonancia Magnética , Masculino , Estudios Retrospectivos , Espasmos Infantiles/complicaciones , Tomografía Computarizada por Rayos X , Vigabatrin , Ácido gamma-Aminobutírico/uso terapéuticoRESUMEN
Los niños con encelopatias cronicas pueden presentar retraso del desarrollo psicomotor y en algun momento de su evolucion, crisis de espasmos con tazado electroencefalografico hipsarritmico, constituyendo un sindrome de west sintomatico. Presentamos un analisis y seguimiento evolutivo de 9 niños que, si presentaron hipsarritmia, no sufrieron espasmos. Prevaleciendo en mujeres (8:1), la hipsarritmia comenzo en la mayoria de los pacientes (77.8 por ciento) antes de los meses. El factor etiologico fue, en todos los pacientes, un daño encefalico previo. Clinicamente los niños presentaron examen neurologico anormal, solo 6 niños presentaron convulciones y ninguno presento crisis de espasmos. Los electroencefalogramas mostraron algun tipo de hipsarritmia. Se evalua el resultado del tratamiento con ACTH instaurado. Resaltamos la existencia de hipsarritmia sin crisis de espasmos y destacamos que 3 niños de nuestra serie presentaron, como caracteristica propia distintiva, la ausencia de manifestaciones convulsivas
Asunto(s)
Humanos , Niño , Espasmos Infantiles/complicaciones , Espasmos Infantiles/diagnóstico , Espasmos Infantiles/etiología , Espasmos Infantiles/enfermería , Espasmos Infantiles/patología , Hormona Adrenocorticotrópica , Hormona Adrenocorticotrópica/efectos adversos , Hormona Adrenocorticotrópica/análisis , Hormona Adrenocorticotrópica/síntesis química , Hormona Adrenocorticotrópica/farmacología , Hormona Adrenocorticotrópica/uso terapéutico , Hormona Adrenocorticotrópica/toxicidadRESUMEN
Se analizaron 22 historias clínicas con diagnóstico de Síndrome de West, que ingresaron en las Clínicas Pediátricas B y C del Centro Hospitalario Pereira Rossell en el período de 2 años. Representaron el 9.5 por ciento de las epilepsias infantiles. El rango etario fue de 1 a 10 meses. La demora en el diagnóstico fue promedialmente de 1 mes. Las hipótesis diagnósticas iniciales fueron erróneas en el 72 por ciento de los niños. El 77 por ciento de los casos fueron de causa sintomática. El EEG inicial fue normal en el 9 por ciento de los niños. La terapéutica controló los espasmos infantiles en el 64 por ciento de los casos. El 80 por ciento de los niños presentaron secuelas. La ausencia de secuelas se asocian en forma significativa con West idiopáticos. Concluimos en la importancia de promover el diagnóstico y tratamiento precoz de esta entidad, pues del mismo dependerá el futuro de estos niños, especialmente los idiopáticos (AU)
Asunto(s)
INFORME DE CASO , Humanos , Masculino , Femenino , Recién Nacido , Lactante , Espasmos Infantiles , Espasmos Infantiles/complicaciones , Espasmos Infantiles/diagnóstico , Espasmos Infantiles/etiología , Espasmos Infantiles/tratamiento farmacológico , Hormona Adrenocorticotrópica/uso terapéutico , Clonazepam/uso terapéutico , Prednisona/uso terapéuticoRESUMEN
Se analizaron 22 historias clínicas con diagnóstico de Síndrome de West, que ingresaron en las Clínicas Pediátricas "B" y "C" del Centro Hospitalario Pereira Rossell en el período de 2 años. Representaron el 9.5 por ciento de las epilepsias infantiles. El rango etario fue de 1 a 10 meses. La demora en el diagnóstico fue promedialmente de 1 mes. Las hipótesis diagnósticas iniciales fueron erróneas en el 72 por ciento de los niños. El 77 por ciento de los casos fueron de causa sintomática. El EEG inicial fue normal en el 9 por ciento de los niños. La terapéutica controló los espasmos infantiles en el 64 por ciento de los casos. El 80 por ciento de los niños presentaron secuelas. La ausencia de secuelas se asocian en forma significativa con West idiopáticos. Concluimos en la importancia de promover el diagnóstico y tratamiento precoz de esta entidad, pues del mismo dependerá el futuro de estos niños, especialmente los idiopáticos
Asunto(s)
Humanos , Masculino , Femenino , Recién Nacido , Lactante , Espasmos Infantiles , Hormona Adrenocorticotrópica/uso terapéutico , Clonazepam/uso terapéutico , Prednisona/uso terapéutico , Espasmos Infantiles/complicaciones , Espasmos Infantiles/diagnóstico , Espasmos Infantiles/tratamiento farmacológico , Espasmos Infantiles/etiologíaRESUMEN
Se describen dos niñas con crisis epilépticas en los primeros meses de vida, que evolucionaron a espasmos infantiles; agenesia de cuerpo calloso; coriorretinopatía caracterizada por atrofia lacunar; severo retardo del desarrollo psicomotor y malformaciones vertebrales, asociación que corresponde al síndrome de Aicardi, de herencia dominante ligado al cromosoma X y probablemente producido por una mutación reciente. Puesto que los criterios mayores que definen el síndrome pueden verse también, cuando aparecen por separado, en otras afecciones genéticas o metabólicas, es necesario efectuar un cuidadoso diagnóstico diferencial