[Transient topographical amnesia: a description of a series of eight cases]. / Amnesia topografica transitoria: descripcion de una serie de ocho casos.

INTRODUCTION: Impaired memory, and more particularly spatial orientation, occurs in pathologies such as dementia, cerebrovascular accidents or traumatic brain injuries. Less frequently it also appears as a transient disorder in healthy people with no apparent brain damage, in which case it is known as transient topographical amnesia (TTA). The aim of this work is to report on a series of eight cases of TTA that were evaluated in a neurology unit. CASE REPORTS: We study the cases of eight patients diagnosed with TTA over the period 2002-2008. Patients were considered to fulfil eligibility criteria if they had presented at least one episode of spatial disorientation, with no loss of memory or consciousness, and were able to describe the events that had taken place, without any previous cognitive impairment and with a normal neurological examination. The demographic characteristics taken into account in the study were: predominance of females (75%) and a mean age of 69.13 +/- 8.79 years. The mean number of episodes was 1.75 (range: 1-3), which lasted an average of 24.5 minutes. Three of the eight patients had associated vascular risk factors. Neuroimaging studies did not reveal any relevant findings in any of the eight patients, except one case of a bilateral frontal porencephalic area resulting from a traumatic brain injury suffered in the past. Simple single-photon emission tomography and Doppler ultrasound imaging scans of the brain, as well as an electroencephalogram, were performed on two patients, the results being normal in all cases. Follow-ups were performed on all the patients, without any kind clinical change being observed, except for one patient who developed dementia at six years after the episode of amnesia. CONCLUSIONS: TTA is possibly an underdiagnosed condition which we believe should be included in the differential diagnosis of patients who are referred owing to suspected cognitive impairment.

Amnesia topográfica transitoria: descripción de una serie de ocho casos / Transient topographical amnesia: a description of a series of eight cases

Introducción. La afectación de la memoria, en concreto la orientación espacial, está presente en patologías como la demencia, accidentes cerebrovasculares o traumatismos craneoencefálicos. Más raramente ocurre de forma transitoria en personas sanas sin daño cerebral evidente, denominándose amnesia topográfica transitoria (ATT). El objetivo de este trabajo es describir una serie de ocho casos de ATT valorados en una consulta de neurología. Casos clínicos. Serie de ocho pacientes diagnosticados de ATT entre los años 2002-2008. Como criterios de inclusión, seconsideraron aquéllos que habían presentado al menos un episodio de desorientación espacial episódica sin pérdida de memoria ni conciencia, pudiendo describir los eventos ocurridos, en ausencia de deterioro cognitivo previo y con exploración neurológica normal. Las características demográficas fueron: predominio de sexo femenino (75%) y edad media de 69,13 ± 8,79 años. El número medio de episodios fue de 1,75 (rango: 1-3), con una duración media de 24,5 minutos. Tres de los ocho pacientes asociaban factores de riesgo vascular. Los ocho pacientes tenían estudios de neuroimagen donde no se observaron hallazgos de interés, salvo un caso con un área porencefálica frontal bilateral antigua a un traumatismo craneoencefálico. Se realizó tomografía simple por emisión de fotón único cerebral y ecografía Doppler a dos pacientes, con resultados normales, así como electroencefalograma, que fue también normal. Hubo un seguimiento a todos los pacientes, sin observarse ningún cambio clínico, salvo un paciente que desarrolló demencia a los seis años del episodio de amnesia. Conclusiones. La ATT se trata posiblemente de una entidad infradiagnosticada, que creemos que debe incluirse en el diagnóstico diferencial de pacientes remitidos por sospecha de deterioro cognitivo (AU)

Introduction. Impaired memory, and more particularly spatial orientation, occurs in pathologies such as dementia, cerebrovascular accidents or traumatic brain injuries. Less frequently it also appears as a transient disorder in healthy people with no apparent brain damage, in which case it is known as transient topographical amnesia (TTA). The aim of this work is to report on a series of eight cases of TTA that were evaluated in a neurology unit. Case reports. We study the cases of eight patients diagnosed with TTA over the period 2002-2008. Patients were considered to fulfil eligibility criteria if they had presented at least one episode of spatial disorientation, with no loss of memory or consciousness, and were able to describe the events that had taken place, without any previous cognitive impairment and with a normal neurological examination. The demographic characteristics taken into account in the study were: predominance of females (75%) and a mean age of 69.13 ± 8.79 years. The mean number of episodes was 1.75 (range: 1-3), which lasted an average of 24.5 minutes. Three of the eight patients had associated vascular risk factors. Neuroimaging studies did not reveal any relevant findings in any of the eight patients, except one case of a bilateral frontal porencephalic area resulting from a traumatic brain injury suffered in the past. Simple single-photon emission tomography and Doppler ultrasound imaging scans of the brain, as well as an electroencephalogram, were performed on two patients, the results being normal in all cases. Follow-ups were performed on all the patients, without any kind clinical change being observed, except for one patient who developed dementia at six years after the episode of amnesia. Conclusions. TTA is possibly an underdiagnosed condition which we believe should be included in the differential diagnosis of patients who are referred owing to suspected cognitive impairment (AU)

Vohwinkel Syndrome secondary to missense mutation D66H in GJB2 gene (connexin 26) can include epileptic manifestations.

Vohwinkel Syndrome (VS) is a type of diffuse hereditary palmoplantar keratodermas (DHPPK) accompanied by skeletal dimorphisms and sensorineural deafness. The most frequently reported genetic substrate in VS is a point mutation of GJB2 gene, responsible for encoding connexin 26, a gap-junction protein with a crucial role in neuronal migration in rats. We report the case of a 21-year-old male who is a second-generation member of a family with VS and developed cryptogenic focal epilepsy. Genetic study showed a nucleotide change (c.196G>C) in exon 1 of GJB2 gene, producing a missense mutation, D66H. It is plausible that a functional alteration of connexin 26, such as that resulting of the mutation of our case, can produce an alteration in cortical development with epileptogenic potential. The present case and experimental evidence that connexin 26 is related to animal epileptogenesis suggest that the phenotypic spectrum of VS could be expanded to include epileptic manifestations.