Epilepsia mioclónica en el síndrome de Down y en la enfermedad de Alzheimer / Myoclonic epilepsy in Down syndrome and Alzheimer disease

Introducción: Los pacientes con síndrome de Down (SD) presentan una demencia tipo Alzheimer (EA) asociada a la edad. Ambas patologías, con una base neuropatológica común, han sido asociadas a la epilepsia mioclónica de inicio tardío (LOMEDS). Esta entidad presenta alteraciones electroencefalográficas características en forma de descargas generalizadas de polipunta-onda. Método: Presentamos una serie de 11 pacientes con el diagnóstico de SD o EA que desarrollaron crisis epilépticas mioclónicas o tónico-clónicas generalizadas. En todos ellos, se realizó un seguimiento clínico y estudios de neuroimagen y poligrafía EEG. Resultados: En todos los casos, el deterioro cognitivo avanzó rápidamente tras el comienzo de la epilepsia, produciendo un incremento en el grado de dependencia. El hallazgo más común en el EEG fue un enlentecimiento de la actividad cerebral con ritmos theta y delta; además, en 8 pacientes se objetivaron descargas intercríticas generalizadas de polipunta-onda. En los estudios de neuroimagen se encontró atrofia cerebral cortical. El fármaco más eficaz en esta serie fue el levetiracetam. Conclusiones: La asociación de epilepsia generalizada al SD de edad avanzada supone un epifenómeno en la evolución que marca un agravamiento rápidamente progresivo de las funciones cognitivas y motoras. Presenta unas características electroclínicas bien definidas y se comporta como una epilepsia mioclónica progresiva, que probablemente se relaciona con los cambios estructurales que caracterizan el parecido evolutivo del SD con la enfermedad de Alzheimer. El reconocimiento de este síndrome es importante, dado que tiene repercusiones pronósticas y requiere un tratamiento adecuado

Introduction: Patients with Down syndrome (DS) who exhibit Alzheimer disease (AD) are associated with age. Both diseases with a common neuropathological basis have been associated with late-onset myoclonic epilepsy (LOMEDS). This entity presents electroencephalogram features as generalized polyspike-wave discharges. Method. We present a series of 11 patients with the diagnosis of DS or AD who developed myoclonic seizures or generalized tonic-clonic seizures. In all cases, clinical and neuroimaging studies and polygraph EEG monitoring was performed. Results: In all cases, cognitive impairment progressed quickly after the onset of epilepsy causing an increase in the degree of dependence. The most common finding in the EEG was a slowing of brain activity with theta and delta rhythms, plus intercritical generalized polyspike-waves were objectified in eight patients. In neuroimaging studies was found cerebral cortical atrophy. The most effective drug in this series was the levetiracetam. Conclusions: The association of generalized epilepsy with elderly DS represents an epiphenomenon in evolution which is associated with a progressive deterioration of cognitive and motor functions. This epilepsy has some electroclinical characteristics and behaves as progressive myoclonic epilepsy, which is probably related to the structural changes that characterize the evolutionary similarity of DS with AD. Recognition of this syndrome is important, since it has prognostic implications and requires proper treatment

Myoclonic epilepsy in Down syndrome and Alzheimer disease. / Epilepsia mioclónica en el síndrome de Down y en la enfermedad de Alzheimer.

INTRODUCTION: Patients with Down syndrome (DS) who exhibit Alzheimer disease (AD) are associated with age. Both diseases with a common neuropathological basis have been associated with late-onset myoclonic epilepsy (LOMEDS). This entity presents electroencephalogram features as generalized polyspike-wave discharges. METHOD: We present a series of 11 patients with the diagnosis of DS or AD who developed myoclonic seizures or generalized tonic-clonic seizures. In all cases, clinical and neuroimaging studies and polygraph EEG monitoring was performed. RESULTS: In all cases, cognitive impairment progressed quickly after the onset of epilepsy causing an increase in the degree of dependence. The most common finding in the EEG was a slowing of brain activity with theta and delta rhythms, plus intercritical generalized polyspike-waves were objectified in eight patients. In neuroimaging studies was found cerebral cortical atrophy. The most effective drug in this series was the levetiracetam. CONCLUSIONS: The association of generalized epilepsy with elderly DS represents an epiphenomenon in evolution which is associated with a progressive deterioration of cognitive and motor functions. This epilepsy has some electroclinical characteristics and behaves as progressive myoclonic epilepsy, which is probably related to the structural changes that characterize the evolutionary similarity of DS with AD. Recognition of this syndrome is important, since it has prognostic implications and requires proper treatment.

Demencia frontotemporal asociada al cromosoma 17 y otros síndromes parkinsonianos asociados a demencia / Frontotemporal dementia associated to chromosome 17 and other Parkinsonian syndromes linked to dementia

Introducción. Dentro de los síndromes con deterioro cognitivo se hallan múltiples entidades que asocian parkinsonismo como síntoma acompañante a lo largo de su evolución. En ocasiones no se valoran los signos de patología extrapiramidal de forma adecuada, atribuyéndolos a efectos secundarios de la medicación o simplemente obviándolos si son leves y no causan incapacidad notable. Sin embargo, cuando aparecen es conveniente pensar en otras causas que los expliquen, replanteándose el diagnóstico inicial. Objetivo. Realizar un repaso breve de las entidades que presentan demencia como síntoma principal además de síndrome parkinsoniano en diferente medida. Desarrollo. Entre los síndromes con demencia y parkinsonismo asociado se encuentran numerosas patologías muy heterogéneas tanto en frecuencia como en etiología y pronóstico. Algunas son poco frecuentes, como las asociadas a mutaciones del cromosoma 17, y otras son tan comunes como la enfermedad de Alzheimer o la hidrocefalia normotensiva. También se incluyen procesos de diferente etiología: degenerativa, infecciosa, traumática, tóxica o metabólica, vascular, etc... que pueden, entre otros síntomas, presentar demencia y parkinsonismo. Conclusiones. Conocer dichas patologías nos puede ayudar a realizar un diagnóstico correcto, siempre deseable para tratar al paciente adecuadamente e informar de la forma más veraz a la familia sobre la evolución y pronóstico esperables (AU)

Introduction. Among the syndromes with cognitive impairment, there are a number of conditions that associate parkinsonism as an accompanying symptom throughout the whole of its development. On some occasions the signs of extrapyramidal pathology are not appraised properly and are attributed to secondary effects of the medication or are simply ignored if they are mild and do not cause any notable disability. When they do appear, however, it is wise to think about other causes that can explain them, reconsidering the initial diagnosis. Aims. To carry out a brief review of the conditions that present dementia as the main symptom, in addition to Parkinsonian syndrome, although to different extents. Development. Among the syndromes with dementia and parkinsonism associated to them, there are a number of pathologies that are very heterogeneous in terms of both their frequency and their causation and prognosis. Some of them are not very frequent, such as those associated to mutations of chromosome 17, and others are as common as Alzheimer's disease or normotensive hydrocephalus. They also include processes with different aetiologies (which can be degenerative, infectious, traumatic, toxic or metabolic, vascular, and so forth) that can present dementia and parkinsonism, among other symptoms. Conclusions. An understanding of such pathologies can help reach a correct diagnosis, which is fundamental to be able to treat the patient adequately and provide the family with information that is as accurate as possible about the expected development and prognosis (AU)

[Clinical epidemiological study of vascular epilepsy]. / Estudio clínico epidemiológico de la epilepsia vascular.

INTRODUCTION: Little research has been conducted on vascular epilepsy (VE) in our environment, although some authors claim it accounts for 45% of all symptomatic epilepsies in persons over 60 year of age. PATIENTS AND METHODS: We obtained a cross-sectional sample of the hospital admissions that took place in our health area between 1999 and 2005 using the diagnosis-related group coding system with numbers 14 (specific cerebrovascular disorders, except transient ischemic attacks and intracerebral haemorrhages) and 810 (intracerebral haemorrhages), and crossing them with an admission diagnosis of epileptic seizures or symptomatic status epilepticus. We recruited 101 patients who had been diagnosed with VE (taking into account only those who had seizures two weeks after the acute event). This represented 9.14% of all new cases of epilepsy over that period of time. RESULTS: After rejecting patients who had had their stroke before 1999 and those for whom no accurate record of the event was available, we obtained an incidence of VE in ischaemic strokes of 6.5%, with a figure of 11.6% for haematomas. Status epilepticus was reported in 27.7% of cases. Early status epilepticus was associated with a mortality rate of 77.7%. CONCLUSIONS: Although the incidence of VE is higher than in other series that have appeared in the literature, our sample is too small to be able to extract data concerning demographic characteristics. Nevertheless, its prevalence makes it an important health issue that increases the rate at which resources are used and adds further insecurity in the case of individuals who already suffer some degree of disability.

Estudio clínico epidemiológico de la epilepsia vascular / Clinical epidemiological study of vascular epilepsy

La epilepsia vascular (EV) se ha estudiado poco en nuestro medio; para algunos autores constituyeel 45% de las epilepsias sintomáticas de las personas por encima de 60 años. Pacientes y métodos. Obtuvimos una muestra transversal de los ingresos hospitalarios realizados en nuestra área sanitaria entre 1999 y 2005, utilizando el sistema de codificaciónpor grupos relacionados con el diagnóstico con los números 14 (trastornos cerebrovasculares específicos, excepto accidentes isquémicos transitorios y hemorragias intracerebrales) y 810 (hemorragias intracerebrales), cruzándolos con diagnóstico de ingreso de crisis epiléptica o estado de mal sintomático. Seleccionamos 101 pacientes con el diagnóstico deEV (considerando sólo los que presentaron crisis después de dos semanas del evento agudo). Esto supuso el 9,14% de nuevos casos de epilepsia en ese período. Resultados. Desestimando los pacientes que habían sufrido el ictus antes de 1999 y aquéllos en los que no figuraba con exactitud, obtuvimos una incidencia de EV en ictus isquémico del 6,5%, y en hematomas del11,6%. En el 27,7% se registraron estados de mal epiléptico. El estado de mal epiléptico precoz se asoció con una mortalidad del 77,7%. Conclusiones. Aunque la incidencia de EV es más elevada que en otras series publicadas, la muestra es pequeña para extraer datos sobre las características demográficas. Sin embargo, su prevalencia la convierte en un problema de saludimportante que incrementa el consumo de recursos y añade inseguridad en individuos que ya sufren algún grado de minusvalía

Little research has been conducted on vascular epilepsy (VE) in our environment, although some authors claim it accounts for 45% of all symptomatic epilepsies in persons over 60 year of age. Patients and methods. Weobtained a cross-sectional sample of the hospital admissions that took place in our health area between 1999 and 2005 using the diagnosis-related group coding system with numbers 14 (specific cerebrovascular disorders, except transient ischemicattacks and intracerebral haemorrhages) and 810 (intracerebral haemorrhages), and crossing them with an admission diagnosis of epileptic seizures or symptomatic status epilepticus. We recruited 101 patients who had been diagnosed with VE (taking into account only those who had seizures two weeks after the acute event). This represented 9.14% of all new cases of epilepsy over that period of time. Results. After rejecting patients who had had their stroke before 1999 and those for whom noaccurate record of the event was available, we obtained an incidence of VE in ischaemic strokes of 6.5%, with a figure of 11.6% for haematomas. Status epilepticus was reported in 27.7% of cases. Early status epilepticus was associated with a mortality rate of 77.7%. Conclusions. Although the incidence of VE is higher than in other series that have appeared in theliterature, our sample is too small to be able to extract data concerning demographic characteristics. Nevertheless, its prevalence makes it an important health issue that increases the rate at which resources are used and adds further insecurityin the case of individuals who already suffer some degree of disability

[Polycystic ovary syndrome and valproic acid]. / Síndrome de ovario poliquístico y ácido valproico.

INTRODUCTION: The reproductive functions of epileptic females often display alterations. This dysfunction can be due to psychological, physiological or pharmacological factors. These women have been described as having, for example, a higher incidence of anovulatory cycles, infertility, alterations affecting the hypothalamic or pituitary hormones and the peripheral sex hormones. The greater incidence of polycystic ovary syndrome is subject to debate, since the prevalence varies according to the eligibility criteria used for the syndrome. DEVELOPMENT: The series that show a positive relation between polycystic ovary syndrome and epilepsy tend to understand it to be a side effect of antiepileptic medication, especially valproic acid. Two theories are considered: it has a direct action on the sex hormones or hyperinsulinism that is secondary to weight gain. As neurologists, in our daily practice we must show concern for the conceive. Moreover, we must determine the baseline reproductive hormonal functioning of the epileptic female before beginning antiepileptic therapy, provide laboratory backed evidence of any sexual function disorder and refer them to the reproductive and sexual health of epileptic women. To do so, we need a patient record that is aimed at detecting possible problems, with special attention being given to the warning signs , such as changes in weight, variations of the menstrual cycles or mid cycle bleeding, the appearance of androgynous obesity, signs of virilisation, miscarriages or difficulties to endocrinologist or gynaecologist. CONCLUSIONS: Knowledge about both pathologies will enable us to modify antiepileptic therapy if the relation it has with them is confirmed, since this side effect could be reversible.

Síndrome de ovario poliquístico y ácido valproico / Polycystic ovary syndrome and valproic acid

Introducción. Las alteraciones en la función reproductora son frecuentes en las mujeres epilépticas. La disfunción puede deberse a factores psicológicos, fisiológicos o farmacológicos. En ellas se ha descrito, fundamentalmente, una mayor incidencia de ciclos anovulatorios, infertilidad, alteraciones en las hormonas hipotalámicas o hipofisarias y en las hormonas sexuales periféricas. La mayor incidencia del síndrome de ovario poliquístico es un tema de debate, ya que la prevalencia varía en función de los criterios de inclusión del síndrome. Desarrollo. Las series que muestran una relación positiva entre el síndrome de ovario poliquístico y la epilepsia tienden a considerarlo un efecto adverso de los fármacos antiepilépticos, especialmente del ácido valproico, y se consideran dos teorías: su acción directa sobre las hormonas sexuales o el hiperinsulinismo secundario a la ganancia de peso. Los neurólogos debemos implicarnos rutinariamente en la salud reproductora y sexual de la mujer epiléptica, y realizar una historia clínica orientada a su detección, con especial atención a los `signos de alarma', como son: cambios en el peso, cambios en los ciclos menstruales o pérdidas a mitad del ciclo, aparición de obesidad andrógina, signos de virilización, abortos o dificultad en concebir. Asimismo, debemos conocer la función hormonal reproductora basal de la mujer epiléptica antes de iniciar el tratamiento antiepiléptico, documentar con soporte de laboratorio cualquier alteración de la función sexual, y remitirlas al endocrinólogo o ginecólogo. Conclusión. El conocimiento de ambas patologías permitirá modificar el tratamiento antiepiléptico si se confirma la relación con el mismo, dado que puede tratarse de un efecto adverso reversible (AU)

Introduction. The reproductive functions of epileptic females often display alterations. This dysfunction can be due to psychological, physiological or pharmacological factors. These women have been described as having, for example, a higher incidence of anovulatory cycles, infertility, alterations affecting the hypothalamic or pituitary hormones and the peripheral sex hormones. The greater incidence of polycystic ovary syndrome is subject to debate, since the prevalence varies according to the eligibility criteria used for the syndrome. Development. The series that show a positive relation between polycystic ovary syndrome and epilepsy tend to understand it to be a side effect of antiepileptic medication, especially valproic acid. Two theories are considered: it has a direct action on the sex hormones or hyperinsulinism that is secondary to weight gain. As neurologists, in our daily practice we must show concern for the reproductive and sexual health of epileptic women. To do so, we need a patient record that is aimed at detecting possible problems, with special attention being given to the ‘warning signs’, such as changes in weight, variations of the menstrual cycles or mid-cycle bleeding, the appearance of androgynous obesity, signs of virilisation, miscarriages or difficulties to conceive. Moreover, we must determine the baseline reproductive hormonal functioning of the epileptic female before beginning antiepileptic therapy, provide laboratory-backed evidence of any sexual function disorder and refer them to the endocrinologist or gynaecologist. Conclusions. Knowledge about both pathologies will enable us to modify antiepileptic therapy if the relation it has with them is confirmed, since this side effect could be reversible (AU)

[Remission of polycystic ovary syndrome associated with valproic acid in an epileptic female]. / Remisión de un síndrome de ovario poliquístico asociado a ácido valproico en una mujer epiléptica.

INTRODUCTION: In the epileptic female there is an increase in the number of disorders affecting the reproductive function, which on some occasions can be related to a polycystic ovary syndrome (PCOS). The Finnish school showed an increase in the number of cases of PCOS among females receiving antiepileptic therapy with valproic acid over a long period of time, which can affect up to 43% of the patients being treated. Such a high incidence has not been confirmed in other European series and it is likely that specific ethnic characteristics exert an influence on the results. We examine the possibility that PCOS constitutes a secondary chronic side effect of using valproic acid (VPA) and, as such, is reversible if the antiepileptic therapy is modified following its detection. CASE REPORT: Female, aged 21, who developed PCOS during the course of therapy with VPA, which remitted after changing the treatment to lamotrigine. The clinical signs that have to act as a warning of the possible presence of PCOS in epileptic patients are the appearance of menstrual disorders or signs of virilisation, such as hirsutism and android obesity.

Remisión de un síndrome de ovario poliquístico asociado a ácido valproico en una mujer epiléptica / Remission of polycystic ovary syndrome associated with valproic acid in an epileptic female

Introducción. En la mujer epiléptica existe un incremento de las alteraciones en la función reproductora que, en algunas ocasiones, puede relacionarse con un síndrome de ovario poliquístico (SOPQ). La escuela finlandesa demostró un incremento de SOPQ en las mujeres que recibían tratamiento antiepiléptico con ácido valproico sostenido a largo plazo, que puede afectar al 43 por ciento de las pacientes tratadas. Esta incidencia tan elevada no se ha confirmado en otras series europeas, y probablemente en los resultados influyan características étnicas propias. Nosotros consideramos la posibilidad de que el SOPQ constituya un efecto adverso crónico secundario al empleo de ácido valproico (VPA) y que, como tal, sea reversible si se modifica el tratamiento antiepiléptico cuando se detecta. Caso clínico. Mujer de 21 años que desarrolló SOPQ durante el tratamiento con VPA, y que remitió tras modificar la terapéutica a lamotrigina. Los signos clínicos que deben alertar de la posible presencia de un SOPQ en las pacientes epilépticas son la aparición de baches menstruales o indicios de virilización, como hirsutismo y obesidad androide (AU)

Introduction. In the epileptic female there is an increase in the number of disorders affecting the reproductive function, which on some occasions can be related to a polycystic ovary syndrome (PCOS). The Finnish school showed an increase in the number of cases of PCOS among females receiving antiepileptic therapy with valproic acid over a long period of time, which can affect up to 43% of the patients being treated. Such a high incidence has not been confirmed in other European series and it is likely that specific ethnic characteristics exert an influence on the results. We examine the possibility that PCOS constitutes a secondary chronic side effect of using valproic acid (VPA) and, as such, is reversible if the antiepileptic therapy is modified following its detection. Case report. Female, aged 21, who developed PCOS during the course of therapy with VPA, which remitted after changing the treatment to lamotrigine. The clinical signs that have to act as a warning of the possible presence of PCOS in epileptic patients are the appearance of menstrual disorders or signs of virilisation, such as hirsutism and android obesity (AU)

Bilateral fronto-occipital polymicrogyria and epilepsy.

We present a clinico-pathological case report in which both cortical dysplasia and epilepsy coexisted: a 30 year old male who was dead on arrival at hospital. One and a half hours earlier he had developed complex partial status with peri-oral cyanosis. At post mortem examination his brain showed bilateral occipital frontal polymicrogyria with unlayered neuronal migration disorder; in other parts there were fourth layer migration disorders. The white matter exhibited multicystic encephalopathy. In the heart there was chronic interstitial and perivascular fibrosis, although he died of a cardiac arrest. Bilateral frontal-occipital polymicrogyria is highly epileptogenic. This was a sporadic case and we cannot define a clear aetiology. There was a pathological cardiac condition without previous vascular risk factors which might be related to repetition of seizures and possibly to his sudden death during status epilepticus.

[Efficacy and tolerability of long term topiramate in drug resistant epilepsy in adults]. / Eficacia y tolerancia del topiramato a largo plazo en la epilepsia refractaria del adulto.

OBJECTIVE: With the objective of evaluating the efficacy and tolerability of topiramate (TPM) in resistant epilepsy, we did a retrospective, open, multicentric analysis of 56 patients aged over 15 years in whom TPM was given as the second, third or fourth drug. All patients had already been on treatment for at least 18 months when topiramate was started. The average follow up was 27.2 months. RESULTS: At the close of the study 16% of the patients were asymptomatic, 23% had a 75% reduction in seizures and 36% a 50% reduction. The drug was withdrawn in 25% of the cases. The adverse effects noted were: nephrolithiasis, asthenia, loss of hair, diarrhoea, weight loss of over 5kg., agitation, aggressiveness, language disorders, ataxia, tremor, somnolence and confusion. The drug had to be suspended when these adverse effects affected the central nervous system moderately or severely, and when there were general effects such as renal calculi in one case and weight loss associated with symptoms which worried the patients in two cases. CONCLUSIONS: Thus, TPM is an effective drug in refractory epilepsy and most patients continue on this treatment. The side effects are typical of the drug, and although there is no risk to life, the patient should be warned of them.

Eficacia y tolerancia del topiramato a largo plazo en la epilepsia refractaria del adulto / Efficacy and tolerability of long-term topiramate in drug-resistant epilepsy in adults

Objetivo. Con el objetivo de valorar la eficacia y tolerancia del topiramato (TPM) en la epilepsia refractaria hemos realizado un análisis retrospectivo, abierto y multicéntrico, que incluye 56 pacientes mayores de 15 años; en ellos, el TPM se iniciaba asociado como segundo, tercero o cuarto fármaco. En el momento de su inclusión llevaban al menos 18 meses de tratamiento. El seguimiento promedio fue de 27,2 meses. Resultados. Al cerrar el estudio, el 16 por ciento de los pacientes permanecen asintomáticos, un 23 por ciento redujeron las crisis en un 75 por ciento y en un 36 por ciento las crisis se redujeron al 50 por ciento. El fármaco se retiró en el 25 por ciento de casos. Los efectos adversos registrados fueron: nefrolitiasis, astenia, caída de cabello, diarrea, adelgazamiento mayor de 5 kg y agitación, agresividad, trastornos del lenguaje, ataxia, temblor, somnolencia y confusión. De éstos, obligaron a la suspensión del fármaco aquellos que afectaban de forma moderada o incapacitante al sistema nervioso central; sistémicamente, la nefrolitiasis en un caso; en dos casos, la pérdida de peso, cuando asoció síntomas que preocuparon a los pacientes. Conclusiones. Por tanto, el TPM es un fármaco eficaz en epilepsia refractaria y la mayoría de los pacientes continúan en tratamiento. Los efectos adversos son peculiares y, aunque no suponen un riesgo para la vida, debe advertirse al paciente (AU)

Bilateral fronto-occipital polymicrogyria and epilepsy.

We present a clinico-pathological case report in which both cortical dysplasia and epilepsy coexisted: a 30 year old male who was dead on arrival at hospital. One and a half hours earlier he had developed complex partial status with peri-oral cyanosis. At post mortem examination his brain showed bilateral occipital frontal polymicrogyria with unlayered neuronal migration disorder; in other parts there were fourth layer migration disorders. The white matter exhibited multicystic encephalopathy. In the heart there was chronic interstitial and perivascular fibrosis, although he died of a cardiac arrest. Bilateral frontal-occipital polymicrogyria is highly epileptogenic. This was a sporadic case and we cannot define a clear aetiology. There was a pathological cardiac condition without previous vascular risk factors which might be related to repetition of seizures and possibly to his sudden death during status epilepticus.

[Benign myoclonic epilepsy in childhood. A case report]. / Epilepsia mioclónica benigna de la infancia. A propósito de un caso.

INTRODUCTION: Benign myoclonic epilepsy of childhood is a rare syndrome which appears at between 4 months and 3 years of age. The prognosis is good if diagnosed and treated early. It is characterized by many short crises (usually of 3 seconds and not more than 5-10 seconds long), proximal and cephalic jerking movements without falling to the ground, and at no particular time of the day. In the EEG polygraph background activity continues and crises coincide with generalized spike and wave or multiple spike and wave discharges of 1 to 2 seconds, accompanied by isolated myoclonic movements in the neck and deltoid muscles, which persist during NREM sleep. Benign epilepsy of childhood usually responds to monotherapy with valproic acid. In our case photosensitivity appeared at 7 years of age with persistence of generalized spikes and waves during sleep. CONCLUSION: We suggest that photosensitivity may be used as an index of the clinical course, and that treatment should continue to be given until photosensitivity disappears.

Simultaneous bilateral fractures of the hip following a grand mal seizure. An unusual complication.

Pathological fractures as a consequence of convulsive seizures without direct trauma occur in 0.3% of cases. Some lesions such as bilateral posterior dislocation of the shoulder, fracture-dislocation of the shoulder or fracture and/or dislocation of the hip strongly suggest a seizure as the aetiology. We report on a patient with simultaneous central dislocation of one hip with fracture of the contralateral femoral neck provoked by spontaneous seizures. Unrecognized associated injuries following a convulsion may result in long-term functional disability and legal consequences.

[Fragile X syndrome and epilepsy]. / Síndrome X frágil y epilepsia.

Fragile X syndrome is the most frequent cause of genetically related mental retardation. Epilepsy, occurring in 20 to 40% of cases, is considered a minor sign. Age- and sex-dependent EEG patterns analogous to partial idiopathic epilepsy with rolandic paroxysms have been described. We analyze the clinical and electrical manifestations in a series of 10 patients between 4 and 60 years old; 3 suffered partial seizures developing into generalized seizures and 2 asymptomatic patients had EEG signs. In the remaining patients only slow background activity was observed. The EEG pattern and epileptic seizures were seen only in males. We believe that the association of sharp waves preceding rolandic paroxysm is a differential trait suggesting a structural alteration.

[Absence seizures in adulthood: four cases]. / Crisis de ausencias típicas en la edad adulta: a propósito de 4 casos.

We present four patients between 40 and 60 years of age with irregular control of seizures in adulthood, with a mean duration of history of 44 years and the following characteristics in common; a) history of childhood absence seizures beginning between age 4 and 7; b) appearance of generalized tonic-clonic seizures during adolescence; and c) persistence of typical absence seizures upon awakening during adulthood, manifested as "clumsiness during the first half hour after awakening". Waking and sleeping EEG polygraphs were done on all patients, including the first half hour after awakening, confirming the presence of generalized polyspike/wave during non-REM sleep and generalized spike/wave periods accompanied by simultaneous loss of consciousness, or intermittent slow generalized polyspike/wave accompanied by bradypsychia. We comment on the usefulness of valproic acid alone or in combination with ethosuximide in the treatment of these patients.