Evolución del síndrome de Lennox-Gastaut en la edad adulta / Development of Lennox-Gastaut syndrome in adulthood

Introducción. El síndrome de Lennox-Gastaut (SLG) es una encefalopatía epiléptica de inicio en la infancia con mecanismo fisiopatológico desconocido. Los estudios sobre la evolución del SLG demuestran un mal pronóstico. Pacientes y métodos. Estudio retrospectivo de 1.629 pacientes con epilepsia. Se incluyó a los pacientes con edad de inicio en la infancia, crisis tónicas y ausencias atípicas (los cuales podían sufrir además otros tipos de crisis); electroencefalograma (EEG) con punta-onda lenta generalizada y actividad rápida generalizada; retraso mental y tiempo de seguimiento de al menos 10 años. Resultados. Muestra de 12 pacientes, 9 de ellos varones. Tiempo de seguimiento: 20 años. Inicio de las crisis: 3 años. SLG criptogénico: 67%; sintomático: 33%. Frecuencia de las crisis al inicio: diaria (83,3%) o semanal (16,7%). Tipos de crisis: tónicas y ausencias atípicas (100%); drop-attacks (83%); tonicoclónicas generalizadas (75%); mioclonías (41,7%); parciales (8,3%) y pseudoepilépticas (8,3%). EEG con actividad de fondo lenta, punta-onda lenta generalizada y actividad rápida generalizada: 100%. El 50% de los pacientes tuvo al menos un estado epiléptico. Usaron una media de 7,5 antiepilépticos distintos. Al final del seguimiento sufrían crisis diarias el 33%; semanales, el 17%, y mensuales, el 42%. El 8,3% estaba libre de crisis. Todos seguían politerapia: el 17% biterapia y el 83% con un promedio de 3,8 fármacos (rango: 3-5). El 92% padecía un retraso mental grave o muy grave. El 50% precisó neurolépticos por trastorno del comportamiento. Conclusión. A pesar de que el pronóstico del SLG es grave, observamos una disminución en el número de crisis al cabo de unos años de evolución, si bien la politerapia antiepiléptica es una constante. El retraso mental y los trastornos del comportamiento provocan un pronóstico funcional malo (AU)

Introduction. Lennox-Gastaut syndrome (LGS) is an epileptic encephalopathy that starts in childhood and has an unknown pathophysiological mechanism. Studies on the progress of LGS reveal a poor prognosis. Patients and methods. A retrospective study of 1629 patients with epilepsy was conducted. Patients included in the study were those with an age of onset during childhood, tonic seizures and atypical absences (who might also suffer from other types of seizures); electroencephalogram (EEG) showing generalised slow spike-wave and generalised fast activity; mental retardation and a follow-up time of at least 10 years. Results. The sample consisted of 12 patients, 9 of whom were males. Follow-up time: 20 years. Onset of seizures: 3 years. Cryptogenic LGS: 67%; symptomatic: 33%. Frequency of the seizures at onset: daily (83.3%) or weekly (16.7%). Types of seizures: tonic and atypical absences (100%); drop-attacks (83%); generalised tonic-clonic (75%); myoclonias (41.7%); partial (8.3%) and pseudo-epileptic (8.3%). EEG with slow background activity, generalised slow spike-wave and generalised fast activity: 100%. Fifty percent of the patients had at least one epileptic status. They used an average of 7.5 different antiepileptic drugs. At the end of the follow-up 33% were suffering from seizures on a daily basis; 17% were weekly and 42% monthly. A total of 8.3% were free from seizures. All of them were following combination therapy: 17% in bitherapy and 83% with an average of 3.8 drugs (range: 3-5). A total of 92% suffered from severe or very severe mental retardation. Fifty percent required neuroleptic drugs due to behavioural disorders. Conclusions. Despite the fact that the diagnosis of LGS is serious, we observed a decrease in the number of seizures after several years of development, although the antiepileptic combination therapy remains constant. The mental retardation and behavioural disorders lead to a poor functional prognosis (AU)

[Development of Lennox-Gastaut syndrome in adulthood]. / Evolucion del sindrome de Lennox-Gastaut en la edad adulta.

INTRODUCTION: Lennox-Gastaut syndrome (LGS) is an epileptic encephalopathy that starts in childhood and has an unknown pathophysiological mechanism. Studies on the progress of LGS reveal a poor prognosis. PATIENTS AND METHODS: A retrospective study of 1629 patients with epilepsy was conducted. Patients included in the study were those with an age of onset during childhood, tonic seizures and atypical absences (who might also suffer from other types of seizures); electroencephalogram (EEG) showing generalised slow spike-wave and generalised fast activity; mental retardation and a follow-up time of at least 10 years. RESULTS: The sample consisted of 12 patients, 9 of whom were males. Follow-up time: 20 years. Onset of seizures: 3 years. Cryptogenic LGS: 67%; symptomatic: 33%. Frequency of the seizures at onset: daily (83.3%) or weekly (16.7%). Types of seizures: tonic and atypical absences (100%); drop-attacks (83%); generalised tonic-clonic (75%); myoclonias (41.7%); partial (8.3%) and pseudo-epileptic (8.3%). EEG with slow background activity, generalised slow spike-wave and generalised fast activity: 100%. Fifty percent of the patients had at least one epileptic status. They used an average of 7.5 different antiepileptic drugs. At the end of the follow-up 33% were suffering from seizures on a daily basis; 17% were weekly and 42% monthly. A total of 8.3% were free from seizures. All of them were following combination therapy: 17% in bitherapy and 83% with an average of 3.8 drugs (range: 3-5). A total of 92% suffered from severe or very severe mental retardation. Fifty percent required neuroleptic drugs due to behavioural disorders. CONCLUSIONS: Despite the fact that the diagnosis of LGS is serious, we observed a decrease in the number of seizures after several years of development, although the antiepileptic combination therapy remains constant. The mental retardation and behavioural disorders lead to a poor functional prognosis.

[Rivastigmine in a case of autopsy proved frontotemporal dementia (Pick's disease)]. / Rivastigmina en un caso de demencia frontotemporal, enfermedad de Pick verificada por autopsia.

INTRODUCTION: Cholinesterase inhibitors are useful in the treatment of behavioural and psychological symptoms in Alzheimer's disease. Their effectiveness in frontotemporal dementia has not been proved, since such a claim has only been backed by the publication of one open-label trial in which the behavioural and psychological symptoms of the patients treated with rivastigmine over a 12-month period improved significantly with respect to those belonging to a group that were given a placebo. We report a case of frontotemporal dementia, Pick's disease, which improved with rivastigmine treatment. CASE REPORT: A 61-year-old male who presented a progressive clinical picture of behavioural disorders and executive-cognitive impairment that had begun two years earlier. Magnetic resonance imaging of the head revealed severe frontotemporal atrophy. Neuropsychological Inventory (NPI). Overall score 36/144 (6/12: anxiety, disinhibition and aberrant motor behaviour, 4/12: agitation, irritability and apathy; 3/12: sleep and eating disorders. After three months' treatment with rivastigmine, the overall score on the NPI was 10/144. This improvement remained stable over the months that followed. The patient died eight months later after developing liver cancer with metastasis. The microscopic study of the brain showed tau-positive neuronal inclusions, gliosis and neuronal loss. The inclusions were well-circumscribed Pick bodies, which were present in the frontal and temporal cortices and in the dentate gyrus of the hippocampus. CONCLUSIONS: This case confirms the idea that treatment with cholinesterase inhibitors can be effective in the behavioural and psychological symptoms of frontotemporal dementia.

Rivastigmina en un caso de demencia frontotemporal, enfermedad de Pick verificada por autopsia / Rivastigmine in a case of autopsy proved frontotemporal dementia (pick´s disease)

Introducción. Los inhibidores de la colinesterasa son útiles en el tratamiento de los síntomas conductuales y psicológicos en la enfermedad de Alzheimer. Su eficacia en la demencia frontotemporal no está demostrada, pues sólo la avala la publicación de un estudio abierto en el que los síntomas conductuales y psicológicos de los pacientes tratados con rivastigmina durante 12 meses mejoraron significativamente respecto de los del grupo placebo. Describimos un caso de demencia frontotemporal, enfermedad de Pick, que mejoró con el tratamiento con rivastigmina. Caso clínico. Varón de 61 años de edad que presentaba un cuadro clínico progresivo de alteraciones de conducta y afectación ejecutivocognitiva de dos años de evolución. En la resonancia magnética craneal se observó una atrofia frontotemporal grave. En el inventario neuropsicológico (NPI) alcanzó una puntuación global de 36/144 (6/12: ansiedad, desinhibición y conducta motora aberrante, 4/12: agitación, irritabilidad y apatía; 3/12: alteraciones del sueño y de la conducta alimentaria). Tras tres meses de tratamiento con rivastigmina, la puntuación global en el NPI fue de 10/144. Esta mejoría se mantuvo estable en los siguientes meses. Falleció ocho meses después tras desarrollar un hepatocarcinoma con metástasis. En el estudio microscópico del cerebro se observaron inclusiones neuronales tau positivas, pérdida neuronal y gliosis. Las inclusiones eran cuerpos de Pick, bien circunscritos, presentes en la corteza frontal, temporal y en el giro dentado del hipocampo. Conclusión. Este caso confirma que el tratamiento con inhibidores de la colinesterasa puede ser eficaz en los síntomas conductuales y psicológicos de demencia frontotemporal (AU)

Introduction. Cholinesterase inhibitors are useful in the treatment of behavioural and psychological symptoms in Alzheimer's disease. Their effectiveness in frontotemporal dementia has not been proved, since such a claim has only been backed by the publication of one open-label trial in which the behavioural and psychological symptoms of the patients treated with rivastigmine over a 12-month period improved significantly with respect to those belonging to a group that were given a placebo. We report a case of frontotemporal dementia, Pick’s disease, which improved with rivastigmine treatment. Case report. A 61-year-old male who presented a progressive clinical picture of behavioural disorders and executive-cognitive impairment that had begun two years earlier. Magnetic resonance imaging of the head revealed severe frontotemporal atrophy. Neuropsychological Inventory (NPI). Overall score 36/144 (6/12: anxiety, disinhibition and aberrant motor behaviour, 4/12: agitation, irritability and apathy; 3/12: sleep and eating disorders. After three months’ treatment with rivastigmine, the overall score on the NPI was 10/144. This improvement remained stable over the months that followed. The patient died eight months later after developing liver cancer with metastasis. The microscopic study of the brain showed tau-positive neuronal inclusions, gliosis and neuronal loss. The inclusions were well-circumscribed Pick bodies, which were present in the frontal and temporal cortices and in the dentate gyrus of the hippocampus. Conclusions. This case confirms the idea that treatment with cholinesterase inhibitors can be effective in the behavioural and psychological symptoms of frontotemporal dementia (AU)