[Creutzfeldt-Jakob disease with unilateral onset: clinical profile and neuroimaging]. / Enfermedad de Creutzfeldt-Jakob de inicio unilateral: clínica y neuroimagen.

The usual clinical profile of Creutzfeldt-Jakob disease (CJD) is that of subacute dementia and intractable myoclonus. Occasionally, some cases present peculiar clinical features. We report on a case of CJD with an unilateral onset showing remarkable neuroimaging features. The patient, aged 72 years, began to suffer from sudden anomia, initially restricted to persons; but in a few weeks it evolved into a global aphasia, right hemiparesis, severe gait disorder, and finally akinetic mutism and intractable myoclonus. He died 11 weeks after onset. Early in the course, an analysis of 14-3-3 protein in CSF was positive. In advanced disease, the EEG showed the typical periodic activity of CJD. FLAIR MRI study showed a mesencephalic and focal cortical hyperintensity. Autopsy was performed and confirmed the diagnosis of CJD with an extensive presence of generalised spongiosis in cerebral grey matter. This case illustrates the usefulness of the life recent paraclinical methods to diagnose CJD in life. New MRI techniques seems to be particularly relevant, as they are not limited to exclude other conditions but can also offer data with validity to a positive diagnosis, like grey matter hyperintensity, that in this case was present also in the midbrain.

Enfermedad de Creutzfeldt-Jakob de inicio unilateral: clínica y neuroimagen / Creutzfeldt-Jakob disease with unilateral onset: clinical profile and neuroimaging

La presentación clínica típica de la enfermedad de Creutzfeldt-Jakob (ECJ) es la de una demencia subaguda con mioclonías intratables. Ocasionalmente, algunos casos muestran rasgos clínicos peculiares. Presentamos un caso de ECJ de inicio unilateral que presentó también rasgos destacables en la neuroimagen. El paciente, de 72 años de edad, comenzó con una anomia súbita, inicialmente restringida a personas, que evolucionó en pocas semanas a afasia, hemiparesia derecha, incapacidad para caminar y, finalmente, mutismo acinético y mioclonías intratables. Falleció tras 11 semanas de enfermedad. La determinación de la proteína 14-3-3 en una muestra de LCR tomada precozmente fue positiva. En fases avanzadas, el EEG puso de manifiesto la típica actividad periódica. Las secuencias FLAIR de RM revelaron hiperintensidad cortical focal y mesencefálica. La necropsia confirmó el diagnóstico de ECJ por presencia de espongiosis generalizada en la sustancia gris cerebral. Este caso ilustra la utilidad de los recientes métodos de laboratorio para el diagnóstico en vida de la ECJ. En particular la RM presenta datos no ya de exclusión sino de diagnóstico positivo, como la hiperintensidad de la sustancia gris, que en este caso llegó a verse en el mesencéfalo. (AU)

[Vertebrobasilar dolichoectasia]. / Dolicoectasia vertebrobasilar.

OBJECTIVE: Vertebro-basilar dolichoectasia is an anomaly which has been well-known since the earliest days of clinical neurology. In spite of this neither the mechanism by which it is produced not its clinical importance are fully defined. In this paper we review basic clinical aspects of this pathology. DEVELOPMENT: In most cases the subjacent arteriopathy is arteriosclerotic. The clinical features are very varied and it may be asymptomatic. Sometimes the clinical findings are due to compression of adjacent structures, basically the cranial nerves. Trigeminal neuralgia and hemifacial spasm are the commonest findings. There is usually only one presenting symptom but several symptoms may occur at the same time. On other occasions the patients present with cognitive deficits; there is no obvious relationship of cause and effect between vertebro-basilar dolichoectasia and cognitive deterioration. Finally, there seems to be a predisposition to cerebrovascular accidents. Most cerebrovascular accidents associated with dolichoectasia are ischemic, although some are hemorrhagic. Nevertheless, from the point of view of prognosis, the importance of vertebro-basilar dolichoectasia is not completely clear. At the present time, there are no therapeutic attitudes which are specific for this anomaly. CONCLUSIONS: Further studies of the practical results of detection of this anomaly and its natural history are necessary.