Utilidad de la resonancia magnética cerebral con secuencia de difusión y valor b alto en el diagnóstico de la enfermedad de Creutzfeldt-Jakob / Usefulness of high b-value diffusion-weighted MRI in the diagnosis of Creutzfeldt-Jakob disease

Introducción: los criterios diagnósticos actuales de la enfermedad de Creutzfeldt-Jakob (ECJ) probable incluyen la combinación de datos clínicos, electroencefalográficos y analíticos. En los últimos años se ha demostrado que la RM craneal con el uso de secuencias FLAIR y difusión (DWI) puede ser una herramienta útil en el diagnóstico de esta enfermedad. Describimos nuestra experiencia en la utilización de la DWI convencional (b: 1000s/mm2) y DWI con valor b alto (3000s/mm2) en el diagnóstico de la ECJ probable o definitiva. Pacientes y métodos: realizamos un análisis retrospectivo de los pacientes atendidos en nuestro hospital diagnosticados de ECJ probable o definitiva, desde el año 2002 al 2008. A todos ellos se les realizó una RM craneal con un protocolo que incluyó secuencias potenciadas en T1, T2, FLAIR y dos secuencias DWI, una con valor b convencional (1000s/mm2) y otra con valor b alto (3000s/mm2). Resultados: se atendieron a 7 pacientes con diagnóstico de ECJ probable o definitiva. En tres de ellos (43%) la secuencia FLAIR mostró cambios de señal compatibles con ECJ. En todos los pacientes en la secuencia DWI con valor b alto se observaron alteraciones características de la enfermedad, incluyendo dos casos (28%) en los que todas las secuencias realizadas, incluida la DWI convencional, fueron normales. Adicionalmente en los 7 casos (100%) las alteraciones radiológicas fueron más fáciles de identificar y más extensas con valores altos b de DWI (AU). Conclusión: la utilización de un valor b alto (3000s/mm2) en la secuencia DWI puede aumentar la sensibilidad de la RM craneal en el diagnóstico de la ECJ, permitiendo la detección de casos en los que la DWI convencional es normal

Background: current diagnostic criteria of probable Creutzfeldt-Jakob disease (CJD) include a combination of clinical, EEG and analytic data. Recent data indicate that brain MRI including fluid-attenuated inversion recovery (FLAIR) and diffusion-weighted imaging (DWI) sequences can be a valid and reliable tool for the diagnosis of CJD. We describe our experience with high b-value (3000s/mm2) diffusion-weighted imaging (DWI) in patients with probable or definite CJD and compare it with standard b-value (1000s/mm2) DWI. Methods: we performed a retrospective analysis of patients admitted to our Hospital Service between 2002 and 2008 with a final diagnosis of probable or definite CJD. Patients were examined using either a 1.5 Tesla or a 3 Tesla MRI. The MRI protocol included T1-weigthed spin-echo sequences, T2-weighted fast spin-echo, FLAIR and DWI sequences with high b-value and standard b-value. Results: during the study period there were 7 patients with probable or definite CJD. Only 3 patients (43%) showed changes on FLAIR sequence consistent with CJD. All the cases were detected with high b-value DWI, including 2 cases (28%) that would have been missed using standard b-value (1000s/mm2) DWI. In all the patients the changes were more conspicuous and extensive at high b-value DWI (b=3000s/mm2). Conclusion;: our data indicate that high b-value DWI may improve the sensitivity of brain MRI for the diagnosis of CJD, allowing the detection of some cases that would have been overlooked by conventional sequences (AU)

Usefulness of high b-value diffusion-weighted MRI in the diagnosis of Creutzfeldt-Jakob disease.

BACKGROUND: current diagnostic criteria of probable Creutzfeldt-Jakob disease (CJD) include a combination of clinical, EEG and analytic data. Recent data indicate that brain MRI including fluid-attenuated inversion recovery (FLAIR) and diffusion-weighted imaging (DWI) sequences can be a valid and reliable tool for the diagnosis of CJD. We describe our experience with high b-value (3000s/mm(2)) diffusion-weighted imaging (DWI) in patients with probable or definite CJD and compare it with standard b-value (1000s/mm(2)) DWI. METHODS: we performed a retrospective analysis of patients admitted to our Hospital Service between 2002 and 2008 with a final diagnosis of probable or definite CJD. Patients were examined using either a 1.5 Tesla or a 3 Tesla MRI. The MRI protocol included T1-weigthed spin-echo sequences, T2-weighted fast spin-echo, FLAIR and DWI sequences with high b-value and standard b-value. RESULTS: during the study period there were 7 patients with probable or definite CJD. Only 3 patients (43%) showed changes on FLAIR sequence consistent with CJD. All the cases were detected with high b-value DWI, including 2 cases (28%) that would have been missed using standard b-value (1000s/mm(2)) DWI. In all the patients the changes were more conspicuous and extensive at high b-value DWI (b=3000s/mm(2)). CONCLUSION: our data indicate that high b-value DWI may improve the sensitivity of brain MRI for the diagnosis of CJD, allowing the detection of some cases that would have been overlooked by conventional sequences.

Ataxia espinocerebelosa tipo 8: presentación de una familia española / Spinocerebellar ataxia type 8: the case of a spanish family

Introducción. Las ataxias autosómicas dominantes son un grupo de enfermedades neurodegenerativas causadas por la expansión anormal de tripletes. Caso clínico. Varón de 33 años, con expansión en el gen SCA8 (100 repeticiones), que presentó un cuadro clínico compatible con un síndrome pancerebeloso. El paciente se había diagnosticado 11 años antes de histiocitosis X. Se ha realizado un estudio clinicogenético del paciente y varios miembros de la familia (padres y dos hermanas); han resultando portadores de la expansión las dos hermanas y el padre del probando (110 y 150 repeticiones, respectivamente), y se encuentran asintomáticos. Resultados y discusión. No existe relación entre el número de repeticiones y la edad de aparición de la enfermedad. El intervalo normal en nuestra población oscila entre 16-37 repeticiones, y el intervalo patológico no se ha determinado bien. Es posible que exista una relación entre la forma SCA8 y la histiocitosis X (AU)

[The headache in general neruological practice]. / La cefalea en la consulta de neurología general.

INTRODUCTION: Headache is one of the most frequent causes of consultation in a neurology clinic. We present a descriptive, epidemiological study about such a pathology in a general neurology clinic. We evaluated as the most relevant points the frequency of different types of headaches, the reasons for remission and diagnosis concordance with the remitting doctor, normally the General Practitioner. PATIENTS AND METHODS: The collection of data was carried out by means of structured interviews over a three month period. Apart from the epidemiological data of the subjects, the characteristics of the headache, the medication and its possible overuse, were also collected. A systematic neurological examination of all patients was carried out. RESULTS: 286 patients were included. The frequency of different diagnosis (the most frequent chronic daily headache, 39.2%), the number of patients who abused of analgesics (31.8%) and the diagnosis concordance with the referring doctor (20%) was analyzed among other variables. CONCLUSIONS: The study highlights the high number of patients suffering from daily chronic headache and the fundamental role that the abuse of analgesics plays in this diagnostic entity. The diagnosis concordance is too low. A correct initial diagnosis as a result of a better neurological training in primary care would prevent in greater numbers the abuse of analgesics and would offer a better quality of care.

La cefalea en la consulta de neurología general / Headache in a general neurology clinic

Introducción y objetivos: La cefalea es uno de los motivos de consulta más frecuente en la consulta de neurología. Presentamos un trabajo epidemiológico, descriptivo, acerca de dicha afección en una consulta de neurología general. Se valoran, como puntos más relevantes, la frecuencia de los distintos tipos de cefalea, el motivo de remisión del paciente y la concordancia diagnóstica con el médico remitente, habitualmente atención primaria. Pacientes y métodos: La recogida de datos se llevó a cabo, de forma protocolizada, durante un período de 3 meses. Además de la filiación de los pacientes se recogieron las características clínicas de la cefalea y los fármacos utilizados, así como el posible abuso de los mismos. Se realizó una exploración neurológica sistematizada de todos los pacientes. Posteriormente se emitió un juicio diagnóstico. Resultados: Se incluyeron 286 pacientes. Se calculó la frecuencia de los distintos diagnósticos (el más frecuente la cefalea crónica diaria, 39,2 por ciento), el número de pacientes con criterios de abuso de analgésicos (31,8 por ciento) y el porcentaje de concordancia diagnóstica con el médico remitente (20 por ciento), entre otros puntos. Conclusiones: Destaca el elevado número de pacientes con cefalea crónica diaria y el papel fundamental que desempeña el abuso de analgésicos en esta entidad. La concordancia diagnóstica es llamativamente baja. Un correcto diagnóstico inicial, resultante de una mejor formación neurológica de atención primaria, evitaría, en buena medida, el abuso de fármacos y ofertaría una mayor calidad asistencial (AU)

[Acute phenytoin poisoning secondary to an interaction with ticlopidine]. / Intoxicación aguda por fenitoína secundaria a interacción con ticlopidina.

INTRODUCTION: Ticlopidine and phenytoin are two drugs which are widely used in everyday clinical practice, the first as a platelet anti-aggregant and the second as an anti-epileptic agent. Their association is not uncommon, since there is a high incidence of epileptic crises of vascular origin in adults. CLINICAL CASE: We present the case of a 77 year old man who had been treated for twenty years with phenytoin for partial crises secondary to a left frontal hematoma. He then followed treatment with ticlopidine for a femoropopliteal bypass, and the dose was later increased because of a vertebro-basilar ictus. On both occasions he presented with ataxia, dysarthria and nausea due to phenytoin intoxication. The blood levels of this drug were above the therapeutic level. The symptoms disappeared and the patient returned to normal after reduction of the dose of phenytoin and suspending treatment with ticlopidine. DISCUSSION: The mechanism of action of ticlopidine at cytochrome P450 level, inhibiting the metabolic clearance of phenytoin, was responsible for this interaction. We have found only three other cases of interaction between these drugs in the literature, and ours is the first to be published in Spain. CONCLUSION: We emphasize the importance of checking plasma phenytoin levels when starting treatment with ticlopidine, since it may be necessary to reduce the dose of phenytoin.

[Palpebral ptosis and blepharospasm secondary to hemispheric cerebral infarction]. / Ptosis palpebral y blefarospasmo secundarios a infarto hemisférico cerebral.

A case that combines cerebral eyelid ptosis and blepharospasm secondary to cerebral hemisphere infarction is shown. EMG recording from the facial and eyelid muscles revealed lack of the levator palpebrae superioris, orbicularis oculi and corrugator muscles activity. Any voluntary opening attempt lead to a simultaneous contraction of the three muscles. Blink reflex responses were normal although showed facilitation features on the right side and mild inhibition characteristics from the left side. Median nerve SEP revealed a loss of precentral components (P22-N30) as well as a delay and amplitude decrease of N20. Transcranial magnetic stimulation disclosed a complete lesion of corticospinal pathway for right upper limb. In this case, a right hemisphere lesion caused an unusual eyelid motor abnormality: cerebral eyelid ptosis and blepharospasm induced by the voluntary eyelid opening.