Estudio videopolisomnográfico en un paciente con sospecha de insomnio familiar fatal / Video-polisomnografic monitoring in a fatal familial insomnia clinical suspect case

Objetivo. Demostrar las alteraciones neurofisiológicas y del comportamiento del ciclo vigilia-sueño características del insomnio familiar fatal (IFF), en un paciente con sospecha clínica y posterior diagnóstico genético. Paciente y método. Varón de 39 años. Presenta historia familiar compatible con IFF. En el curso de 5 meses manifiesta impotencia, insomnio progresivo y episodios diurnos de sueño con apneas, mioclonías, automatismos y gesticulaciones. Al ingreso, presenta diplopía, hipertensión arterial e hiperhidrosis. Se realizó una monitorización videopolisomnográfica durante 24 h. Cada segundo de registro fue clasificado según los criterios de Sforza (1995). Resultados. Vigilia: ojos cerrados, actividad motora en miembros inferiores. Ritmo alfa posterior reactivo a 8-9 Hz. Sueño: breves episodios de sueño no REM y REM, de características atípicas, con ausencia de sueño profundo y disminución de actividad spindle, en asociación con mioclonías, gesticulaciones y apneas. Insomnio de conciliación. Tras indicar alprazolam (1 mg por vía oral y 0,5 mg sublingual), presentó patrón no REM durante 3,5 h, sin actividad motora y sin apneas. Discusión y conclusiones. Los hallazgos polisomnográficos se caracterizaron por grave alteración de la organización cíclica del sueño, disminución del tiempo total de sueño y patrones no REM y REM atípicos. La administración de alprazolam permitió aumentar el sueño nocturno, con desaparición de las sacudidas motoras y las apneas (AU)

Objective. To demonstrate the neurophysiologic and behavior disorders in the wake-sleep cycle typical of fatal familial insomnia (IFF), in a case with clinical suspect and latter genetic diagnostic. Patient and method. Male 39 year old. Family history of an IFF syndrome. Within 5 months he developed impotence, progressive insomnia and episodes of daytime somnolence associated with apneas, myoclonus and anormal motor behavior. He was hospitalized with diplopia, high blood pressure and hyperhidrosis. We carried out a video-polisomnografic long-term monitoring during 24 hours. Each second of the record was classified according to the de Sforza criterium (1995). Results. Waking: closed eyes, restless movements of legs. Responsive posterior alpha rhythm at 8-9 Hz. Sleep: brief episodes of "NREM" and "REM" sleep of atipical features, such as absence of slow wave sleep and marked reduction of spindle frequency activity, with myoclonus, gesturing and apneas. At night, impossibility in falling asleep. After alprazolam, "NREM" sleep during 3,5 hours, without motor activity nor apneas. Discussion and conclusions. The polisomnografic findings characterized by severe alteration of the cyclic sleep organization, reduction in total sleep time and atipical patterns of "NREM" and "REM" sleep. Administration of alprazolam (1 mg orally and 0.5 mg sublingually) allowed increasing night-time sleep, dissapearing jerks and apneas (AU)

[Disorders affecting the digestive system during sleep]. / Alteraciones del sistema digestivo durante el sueño.

AIMS: In this work we review the major publications dealing with disorders that affect the digestive system and how they are related to sleep. Development. Sleep disorders occur in 12-25% of the general population and a large percentage of these pathologies are related to disorders of the digestive system. We review the different pathologies and symptoms linked to the digestive tract that give rise to sleep disorders. The study first examined the upper digestive tract, that is, the teeth and teeth grinding, and we then went on to look at gastroesophageal reflux, esophageal motility disorders, peptic ulcer disease, cholelithiasis, gastric ulcer, irritable bowel, proctalgia, the extent to which the disorders are related to pregnancy, disorders at the paediatric age and eating disorders. CONCLUSIONS: Digestive pains during sleep form a heterogeneous clinical picture that disrupts patients' sleep and exerts an influence on their quality of daily living, which in turn may affect sleep and favour the appearance of pains. To date these symptoms have received relatively little attention, but in the few studies that have been carried out, it has not been possible to establish with any degree of accuracy whether sleep and the digestive system share common control mechanisms or not. Research into this type of disorders could help to prevent the appearance of the complications that appear in these clinical pictures.

Alteraciones del sistema digestivo durante el sueño / Disorders affecting the digestive system during sleep

Objetivo. En el presente trabajo se revisan las principales publicaciones que tratan sobre alteraciones del sistema digestivo y su relación con el sueño. Desarrollo. Los trastornos del sueño se dan en el 12-25 por ciento de la población general; una gran parte de esta patología tiene relación con alteraciones del sistema digestivo; realizamos una revisión de las distintas patologías digestivas y los cuadros relacionados con el tubo digestivo que acarrean trastornos de sueño. Comenzamos por el sistema digestivo superior, en los dientes, con el bruxismo, y continuamos con la enfermedad por reflujo gastroesofágico, los trastornos de la motilidad esofágica, la enfermedad ulcerosa péptica, la colelitiasis, la úlcera gástrica, el intestino irritable, la proctalgia, la relación de los trastornos con el embarazo, las alteraciones en la edad pediátrica y los trastornos de la alimentación. Conclusiones. Los dolores digestivos durante el sueño forman un cuadro heterogéneo de patologías que interrumpen el sueño del paciente e influyen sobre su calidad de vida diurna; ésta, a su vez, puede influir sobre el sueño y favorecer la aparición de dolores. Estos cuadros se han estudiado hasta ahora relativamente poco; cuando sí se han estudiado, no se ha llegado a establecer con precisión si existen mecanismos de control comunes entre el sueño y el aparato digestivo. La investigación de este tipo de trastornos podría llevar a evitar muchas de las complicaciones que aparecen en estos cuadros (AU)

Aims. In this work we review the major publications dealing with disorders that affect the digestive system and how they are related to sleep. Development. Sleep disorders occur in 12-25% of the general population and a large percentage of these pathologies are related to disorders of the digestive system. We review the different pathologies and symptoms linked to the digestive tract that give rise to sleep disorders. The study first examined the upper digestive tract, that is, the teeth and teeth grinding, and we then went on to look at gastroesophageal reflux, esophageal motility disorders, peptic ulcer disease, cholelithiasis, gastric ulcer, irritable bowel, proctalgia, the extent to which the disorders are related to pregnancy, disorders at the paediatric age and eating disorders. Conclusions. Digestive pains during sleep form a heterogeneous clinical picture that disrupts patients’ sleep and exerts an influence on their quality of daily living, which in turn may affect sleep and favour the appearance of pains. To date these symptoms have received relatively little attention, but in the few studies that have been carried out, it has not been possible to establish with any degree of accuracy whether sleep and the digestive system share common control mechanisms or not. Research into this type of disorders could help to prevent the appearance of the complications that appear in these clinical pictures (AU)

[Changes in episodic and semantic memory associated with temporal lobectomy]. / Cambios en memoria episódica y semántica asociados a la lobulectomía temporal.

INTRODUCTION: Temporal lobectomy (TL) is an effective treatment for drug refractory temporal lobe epilepsy. The main neuropsychological consequences of the intervention are changes in episodic and semantic memory. Aim. To study the consequences of right temporal lobectomy (RTL) and left temporal lobectomy (LTL) on episodic and semantic mnemonic functioning. PATIENTS AND METHOD: 27 patients who had undergone TL in the Hospital Universitario Virgen de las Nieves in Granada were submitted to pre and post surgical evaluation by means of a battery of neuropsychological tests that included episodic and semantic memory tests for both verbal and visual material. RESULTS AND CONCLUSIONS: ANOVA analysis was employed to analyse the pre and post surgical changes for the whole group of patients, and Student s t and Wilcoxon s non parametric test were used for each group of RTL and LTL. No deterioration was found in ipsilateral memory after the intervention, that is to say, in the verbal memory of the patients submitted to LTL and in the visual memory of RTL patients. With regard to contralateral memory, that is, the visual memory of patients submitted to LTL and the verbal memory of RTL patients, the ANOVA analyses of the whole group revealed a statistically significant improvement. The analyses performed for the whole group (LTL and RTL), however, did not reveal any statistically significant changes.

Cambios en la memoria episódica y semántica asociados a la lobulectomía temporal / Changes in episodic and semantic memory associated to temporal lobectomy

Introducción. La lobulectomía temporal (LT) representa un tratamiento eficaz para la epilepsia del lóbulo temporal refractaria al tratamiento farmacológico. Las principales consecuencias neuropsicológicas de la intervención son los cambios en memoria episódica y semántica. Objetivo. Estudiar las consecuencias de la lobulectomía temporal derecha (LTD) y lobulectomía temporal izquierda (LTI) sobre el funcionamiento mnésico episódico y semántico. Pacientes y métodos. 27 pacientes sometidos a LT en el Hospital Universitario Virgen de las Nieves de Granada. Se evaluaron pre y posquirúrgicamente mediante una amplia batería de pruebas neuropsicológicas, que incluía tests de memoria episódica y semántica, tanto para material verbal como visual. Resultados y conclusiones. Se analizaron los cambios pre y posquirúrgicos mediante análisis ANOVA para todo el conjunto de pacientes, y t de Student y test no paramétrico de Wilcoxon para cada grupo de LTD y LTI. No se han encontrado empeoramientos en la memoria ipsilateral a la intervención, es decir, en la memoria verbal de los pacientes sometidos a LTI y en la memoria visual de las LTD. Respecto a la memoria contralateral, es decir, la memoria visual de los pacientes sometidos a LTI y la memoria verbal de los pacientes con LTD, los análisis de todo el grupo mediante ANOVA revelaron una mejora estadísticamente significativa. En cambio, los análisis realizados a cada grupo (LTI y LTD) no mostraron cambios estadísticamente significativos (AU)

[Focal cortical dysplasia and refractory epilepsy. Surgical treatment]. / Displasia cortical focal y epilepsia farmacorresistente. Tratamiento con cirugía.

INTRODUCTION: Focal cortical dysplasia (FCD) is an unusual cause of refractory epilepsy, in which the morbid anatomy is characterized by cortical laminar dysplasia and the presence of balloon like cells. CLINICAL CASE: A 36 year old woman who had had drug-resistant epilepsy since the age of 9 years old, with daily complex partial seizures and seizures in which she fell to the ground. After many therapeutic trials, at the age of 29 years she had a callostomy as palliative treatment for the seizures in which she fell and was completely cured of these. The complex partial seizures increased in frequency, in spite of high doses of multiple drugs, so the possibility of resective surgery was considered. A surface EEG with predominant lateralization and localization to the left temporal lobe, ictal and interictal cerebral SPECT, PET and MR were done. The findings were comparable with two foci of dysplasia in the left cerebral hemisphere, one superior parietal and the other posterior basal temporal in situation. Finally, video-EEG monitoring with foramen ovale electrodes showed ictal activity starting in the left posterior temporal regions and with rapid homolateral anteromesial diffusion. A left temporal lobectomy and amigdalohippocampectomy was done with resection of a posterior basal temporal lesion. This reduced the number of seizures by 90%, with minimal dysnomy as a sequel. The findings on morbid anatomical study were compatible with a FCD. CONCLUSIONS: FCD is a cause of refractory epilepsy which may benefit from surgical treatment, with excellent results, after suitable pre-operative surgical evaluation and planning, including hippocampal evaluation since there is a high incidence of associated mesial sclerosis.

[Protocol of pre-surgical neurophysiological evaluation in epilepsy resistant to treatment]. / Protocolo de evaluación neurofisiológica prequirúrgica en epilepsia resistente a tratamiento.

INTRODUCTION: Nowadays approximately twenty per cent of epileptic patients who are on a pharmacological treatment carry on their fits. Their instability can be eliminated with an operation in any center that is specialized in epileptic surgery. The center must have a cross disciplinary team. DEVELOPMENT: The ideal operation is one that only eliminates the tissue needed to end up with the fits The main goal of the neurophysiological evaluation is to delimit the cerebral area that generates an epileptogenic activity so as to be able to eliminate it without causing further damage. We present a medical record of pre-surgical neurophysiological evaluation that we would like to put into practice in our department in coordination with the services of neurology, radiodiagnosis, and neurosurgery. This medical record contains the following sections: 1. Selection of patients. 2. Non invasive pre-surgical evaluation. 3. Invasive pre-surgical evaluation. 4. Postsurgical evaluation. The invasive pre-surgical evaluation constitutes the most interesting part of the whole process, it allows thanks to intracranial registers to locate accurately epileptogenic focuses; what is more, it allows to carry out a functional mapping of areas that cannot be explored with surface techniques; and finally this evaluation allows to open new fields of investigation about the way in which the encephalon works. CONCLUSION: Epilepsy surgery is a subject to develop in Spain in which the neurophysiologic exploration is something essential.