[Review of a series of cases of Creutzfeldt-Jakob disease in a tertiary care hospital]. / Revisión de una serie de casos de enfermedad de Creutzfeldt-Jakob en un hospital de tercer nivel.

INTRODUCTION: We analysed a series of patients with sporadic Creutzfeldt-Jakob disease in our setting. AIM: The aim of this study is to describe the characteristics of our sample using the new diagnostic tools based on the most recently published criteria. MATERIAL AND METHODS: A descriptive, retrospective study was conducted using a digitalised hospital register. We identified 20 cases of the sporadic type, in the period 2012-2022: eight with a pathological diagnosis and 12 with high probability. The variables sex, age at onset, time of evolution, clinical phenotype, magnetic resonance imaging (MRI) findings, 14.3.3 protein, electroencephalogram (EEG), real-time quaking-induced prion protein conversion (RT-QuIC), autopsy, pathological phenotype and genetic diagnosis were recorded. RESULTS: Of those affected, 50% were men and 50%, women, with an age at onset of 67 years (30-83) and a mean survival time of eight months (1-11 months). Cognitive impairment was the most frequent onset symptom, followed by gait ataxia. All MRI scans with long time-lapse sequences (FLAIR and DWI) were pathological, and the pattern of diffuse cortical and basal ganglia involvement was the most frequent. Altogether, 55% of the sample had an EEG with characteristic triphasic complexes. Sixty-five per cent were positive for 14.3.3 protein in cerebrospinal fluid. Four RT QuIC studies were carried out (in 2020) and all were positive. In 40% of them a confirmatory autopsy was performed, with the MM/MV1 pattern being the most frequent. CONCLUSIONS: MRI with DWI sequences is a particularly sensitive test for the diagnosis of the disease, although its sensitivity decreases in the early stages. The high specificity and sensitivity of RT-QuIC, together with a characteristic clinical diagnosis and radiological pattern, are proposed as an alternative to the pathological definitive diagnosis.

TITLE: Revisión de una serie de casos de enfermedad de Creutzfeldt-Jakob en un hospital de tercer nivel.Introducción. Analizamos en nuestro medio una serie de pacientes con enfermedad de Creutzfeldt-Jakob esporádica. Objetivo. Describir las características de nuestra muestra haciendo uso de las nuevas herramientas diagnósticas según los últimos criterios publicados. Material y métodos. Realizamos un estudio descriptivo y retrospectivo mediante registro hospitalario digitalizado. Identificamos 20 casos del tipo esporádico, en el período 2012-2022, ocho con diagnóstico anatomopatológico y 12 con alta probabilidad. Se registraron las variables sexo, edad de inicio, tiempo de evolución, fenotipo clínico, hallazgos en la resonancia magnética (RM), proteína 14.3.3, electroencefalograma (EEG), conversión de proteína priónica inducida por agitación en tiempo real (RT-QuIC), autopsia, fenotipo anatomopatológico y diagnóstico genético. Resultados. Registramos un 50% de hombres y un 50% de mujeres afectos, con una edad de inicio de 67 años (30-83) y un tiempo de supervivencia medio de ocho meses (1-11 meses). El deterioro cognitivo fue el síntoma de inicio más frecuente, seguido de la ataxia de la marcha. Todas las RM con secuencias de tiempo de repetición largo (FLAIR y DWI) fueron patológicas, y el patrón de afectación cortical difusa y de los ganglios basales fue el más frecuente. El 55% de la muestra tuvo un EEG con complejos trifásicos característicos. El 65% mostró positiva la proteína 14.3.3 en el líquido cefalorraquídeo. Se realizaron cuatro estudios de RT-QuIC (en 2020) y todos fueron positivos. En un 40% se realizó una autopsia confirmatoria, con el patrón MM/MV1 como el más frecuente. Conclusiones. La RM con secuencias de DWI constituye una prueba especialmente sensible para el diagnóstico de la enfermedad, aunque su sensibilidad disminuye en estadios precoces. La alta especificidad y la alta sensibilidad de la RT-QuIC, junto con un diagnóstico clínico y patrón radiológico característico, se plantean como alternativa al diagnóstico de certeza anatomopatológico.

Revisión de una serie de casos de enfermedad de Creutzfeldt-Jakob en un hospital de tercer nivel / Review of a series of cases of Creutzfeldt-Jakob disease in a tertiary care hospital

Introducción Analizamos en nuestro medio una serie de pacientes con enfermedad de Creutzfeldt-Jakob esporádica. Objetivo Describir las características de nuestra muestra haciendo uso de las nuevas herramientas diagnósticas según los últimos criterios publicados. Material y métodos. Realizamos un estudio descriptivo y retrospectivo mediante registro hospitalario digitalizado. Identificamos 20 casos del tipo esporádico, en el período 2012-2022, ocho con diagnóstico anatomopatológico y 12 con alta probabilidad. Se registraron las variables sexo, edad de inicio, tiempo de evolución, fenotipo clínico, hallazgos en la resonancia magnética (RM), proteína 14.3.3, electroencefalograma (EEG), conversión de proteína priónica inducida por agitación en tiempo real (RT-QuIC), autopsia, fenotipo anatomopatológico y diagnóstico genético. Resultados Registramos un 50% de hombres y un 50% de mujeres afectos, con una edad de inicio de 67 años (30-83) y un tiempo de supervivencia medio de ocho meses (1-11 meses). El deterioro cognitivo fue el síntoma de inicio más frecuente, seguido de la ataxia de la marcha. Todas las RM con secuencias de tiempo de repetición largo (FLAIR y DWI) fueron patológicas, y el patrón de afectación cortical difusa y de los ganglios basales fue el más frecuente. El 55% de la muestra tuvo un EEG con complejos trifásicos característicos. El 65% mostró positiva la proteína 14.3.3 en el líquido cefalorraquídeo. Se realizaron cuatro estudios de RT-QuIC (en 2020) y todos fueron positivos. En un 40% se realizó una autopsia confirmatoria, con el patrón MM/MV1 como el más frecuente. Conclusiones La RM con secuencias de DWI constituye una prueba especialmente sensible para el diagnóstico de la enfermedad, aunque su sensibilidad disminuye en estadios precoces. La alta especificidad y la alta sensibilidad de la RT-QuIC, junto con un diagnóstico clínico y patrón radiológico característico, se plantean como alternativa al diagnóstico de certeza anatomopatológico. (AU)

INTRODUCTION We analysed a series of patients with sporadic Creutzfeldt-Jakob disease in our setting. AIM The aim of this study is to describe the characteristics of our sample using the new diagnostic tools based on the most recently published criteria. Material and methods. A descriptive, retrospective study was conducted using a digitalised hospital register. We identified 20 cases of the sporadic type, in the period 2012-2022: eight with a pathological diagnosis and 12 with high probability. The variables sex, age at onset, time of evolution, clinical phenotype, magnetic resonance imaging (MRI) findings, 14.3.3 protein, electroencephalogram (EEG), real-time quaking-induced prion protein conversion (RT-QuIC), autopsy, pathological phenotype and genetic diagnosis were recorded. RESULTS Of those affected, 50% were men and 50%, women, with an age at onset of 67 years (30-83) and a mean survival time of eight months (1-11 months). Cognitive impairment was the most frequent onset symptom, followed by gait ataxia. All MRI scans with long time-lapse sequences (FLAIR and DWI) were pathological, and the pattern of diffuse cortical and basal ganglia involvement was the most frequent. Altogether, 55% of the sample had an EEG with characteristic triphasic complexes. Sixty-five per cent were positive for 14.3.3 protein in cerebrospinal fluid. Four RT QuIC studies were carried out (in 2020) and all were positive. In 40% of them a confirmatory autopsy was performed, with the MM/MV1 pattern being the most frequent. CONCLUSIONS MRI with DWI sequences is a particularly sensitive test for the diagnosis of the disease, although its sensitivity decreases in the early stages. The high specificity and sensitivity of RT-QuIC, together with a characteristic clinical diagnosis and radiological pattern, are proposed as an alternative to the pathological definitive diagnosis. (AU)

Preliminary analysis of a shortened picture version of the Free and Cued Selective Reminding Test.

INTRODUCTION: A picture version of the Free and Cued Selective Reminding Test (FCSRT) would assist in the assessment of memory function in patients with low levels of schooling. A shortened version would improve the test's applicability. OBJECTIVES: To analyse the diagnostic usefulness of a shortened picture version of the FCSRT for distinguishing patients with amnestic mild cognitive impairment (aMCI) from controls, without excluding participants with a low level of schooling. METHODS: Phase I study of a diagnostic evaluation (convenience sampling; pre-test prevalence 50%). A blinded researcher independently administered the FCSRT to 30 patients with aMCI and 30 controls matched for age, sex, level of schooling and literacy, using images and omitting the usual 30-minutes delayed recall item. Three variables were recorded: free recall, total recall, and cue efficiency. Diagnostic accuracy was calculated using receiver operating characteristic curves and the area under the curve. The Youden index was used to identify optimal cut-off points. RESULTS: Of all participants, 41.7% had not completed primary education. There were no differences between groups as regards sociodemographic variables. Area under the curve was excellent for free recall (0.99), total recall (0.95), and cue efficiency (0.93). The optimal cut-off points were 21/22, 43/44, and < 0.77, respectively. CONCLUSIONS: This preliminary analysis shows that a shortened picture version of the FCSRT may be useful and applicable for the diagnosis of aMCI without excluding individuals with a low level of schooling.

Preliminary analysis of a shortened picture version of the Free and Cued Selective Reminding Test. / Evaluación preliminar de una versión pictórica y abreviada del Free and Cued Selective Reminding Test.

INTRODUCTION: A picture version of the Free and Cued Selective Reminding Test (FCSRT) would assist in the assessment of memory function in patients with low levels of schooling. A shortened version would improve the test's applicability. OBJECTIVES: To analyse the diagnostic usefulness of a shortened picture version of the FCSRT for distinguishing patients with amnestic mild cognitive impairment (aMCI) from controls, without excluding participants with a low level of schooling. METHODS: Phase I study of a diagnostic evaluation (convenience sampling; pre-test prevalence 50%). A blinded researcher independently administered the FCSRT to 30 patients with aMCI and 30 controls matched for age, sex, level of schooling and literacy, using images and omitting the usual 30-minute delayed recall item. Three variables were recorded: free recall, total recall, and cue efficiency. Diagnostic accuracy was calculated using receiver operating characteristic curves and the area under the curve. The Youden index was used to identify optimal cut-off points. RESULTS: Of all participants, 41.7% had not completed primary education. There were no differences between groups as regards sociodemographic variables. Area under the curve was excellent for free recall (0.99), total recall (0.95), and cue efficiecy (0.93). The optimal cut-off points were 21/22, 43/44, and < 0.77, respectively. CONCLUSIONS: This preliminary analysis shows that a shortened picture version of the FCSRT may be useful and applicable for the diagnosis of aMCI without excluding individuals with a low level of schooling.

[Bilateral Wallerian degeneration of pontocerebellar fibres secondary to pontine infarction]. / Degeneracion walleriana bilateral de haces pontocerebelosos secundaria a infarto protuberancial.

TITLE: Degeneracion walleriana bilateral de haces pontocerebelosos secundaria a infarto protuberancial.

Descripción de una serie de 10 pacientes con cefalea hípnica: discusión de criterios diagnósticos / Description of series of 10 patients with hypnic headache: Discussion of the diagnostic criteria

Introducción: La cefalea hípnica es una cefalea primaria poco frecuente. Los criterios diagnósticos de la Clasificación Internacional de Cefaleas (CIC) para esta entidad han sido discutidos, por lo que en la nueva edición de la CIC de 2013 se han modificado. Pacientes y métodos: Analizamos las características clínicas y la adecuación a los criterios de la CIC de una serie de 10 pacientes diagnosticados en nuestra consulta de cefaleas. Resultados: La edad media de inicio del cuadro fue 52,1 años (DE: 13,4; rango: 28-69). El 60% de nuestros pacientes describían el dolor como opresivo y el 30% como punzante. En el 60% es holocraneal y en el 40% es hemicraneal. Al 80% les ocurre exclusivamente durante el sueño nocturno. La duración media de la cefalea es de 136,5 min (rango: 10-480). La media de días al mes es de 16.4 (rango: 3-30) y el 50% presentaron cefalea menos de 15 días al mes. Ningún paciente presentó manifestaciones autonómicas, el 70% presentó sonofobia y el 50% fotofobia. El 50% presentó ambas. El 100% puntuó la intensidad en la escala VAS igual o superior a 8. Conclusiones: Los criterios para cefalea hípnica de la nueva CIC se adecuan mejor a las características de estos pacientes. Nuestros resultados reflejan los principales cambios en los criterios: el dolor no siempre es sordo, puede aparecer menos de 15 días al mes y en personas de menos de 50 años. Puede existir sonofobia y fotofobia y no solo uno de ellos. Aunque no forma parte de los criterios diagnósticos, nos ha llamado la atención que en nuestra serie la intensidad es mayor a la descrita

Introduction: Hypnic headache is a rare primary headache. The diagnostic criteria of the International Headache Classification (IHS) for this condition are discussed, as they have been modified in the new edition of the 2013. Patients and methods: The clinical characteristics, and fulfilment of the criteria of the IHS classification in a series of 10 patients diagnosed in our Headaches Clinic, are analyzed. Results: The mean age of onset of symptoms was 52.1 years (SD: 13.4; range: 28-69). The pain was reported as oppressive in 60% of the patients, and as sharp in 30%. The headache was described as holocranial in 60% and hemicranial in 40%. They occurred exclusively during night-time sleep in 80% of the patients. The mean duration of headache was 136.5 minutes (range: 10-480). The mean number of days per month was 16.4 (range: 3-30), and 50% had less than 15 headache days per month. No patient had autonomic manifestations, 70% had phonophobia, 50% had photophobia, and 50% had both. All of them (100%) had a VAS score equal to or higher than 8. Conclusions: The criteria for hypnic headache of the new classification are best suited to the characteristics of these patients. Our results show the major changes in the criteria: pain is not always dull, headache frequency may be less than 15 days a month, and it can occur in people under age 50. There may be phonophobia or photophobia only, or both. Although it does not form part of the diagnostic criteria, the pain intensity in our series was higher than described

Description of series of 10 patients with hypnic headache: Discussion of the diagnostic criteria.

INTRODUCTION: Hypnic headache is a rare primary headache. The diagnostic criteria of the International Headache Classification (IHS) for this condition are discussed, as they have been modified in the new edition of the 2013. PATIENTS AND METHODS: The clinical characteristics, and fulfilment of the criteria of the IHS classification in a series of 10patients diagnosed in our Headaches Clinic, are analyzed. RESULTS: The mean age of onset of symptoms was 52.1years (SD: 13.4; range: 28-69). The pain was reported as oppressive in 60% of the patients, and as sharp in 30%. The headache was described as holocranial in 60% and hemicranial in 40%. They occurred exclusively during night-time sleep in 80% of the patients. The mean duration of headache was 136.5minutes (range: 10-480). The mean number of days per month was 16.4 (range: 3-30), and 50% had less than 15 headache days per month. No patient had autonomic manifestations, 70% had phonophobia, 50% had photophobia, and 50% had both. All of them (100%) had a VAS score equal to or higher than 8. CONCLUSIONS: The criteria for hypnic headache of the new classification are best suited to the characteristics of these patients. Our results show the major changes in the criteria: pain is not always dull, headache frequency may be less than 15days a month, and it can occur in people under age 50. There may be phonophobia or photophobia only, or both. Although it does not form part of the diagnostic criteria, the pain intensity in our series was higher than described.

Síndrome de ClusterTic. A propósito de um caso / No disponible

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Análisis de 18 pacientes diagnosticados de distrofia muscular de tipo Becker / Analysis of 18 cases of Becker muscular dystrophy

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Síndrome de leucoencefalopatía posterior reversible, feocromocitoma y enfermedad de von Hippel-Lindau / Posterior reversible leukoencephalopathy syndrome, pheochromocytoma and von Hippel-Lindau disease

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[Miller Fisher syndrome in the course of an acute pneumonia by Mycoplasma pneumoniae]. / Sindrome de Miller Fisher que complica una neumonía aguda por Mycoplasma pneumoniae.

CASE REPORT: We report a patient with Miller Fisher syndrome in the course of an acute pneumonia by Mycoplasma pneumoniae. CONCLUSION: Miller Fisher syndrome as a neurologic complication of mycoplasmal respiratory disease occurring at infection onset is very rare and has not been described previously.

[Transcranial Doppler velocimetry in normotensive puerperal women]. / Velocimetría Doppler transcraneal en puérperas normotensas.

OBJECTIVES: To know transcranial Doppler (TCD) normal values in postpartum normotensive women. To evaluate the effect of different variables on cerebral blood flow velocity. PATIENTS AND METHODS: TCD examination was carried out in 100 postpartum normotensive women. Six intracranial arteries were evaluated. Different variables such as arterial pressure, hematocrit and clinical data related to pregnancy and delivery were recorded. A descriptive analysis of qualitative variables was made and the mean and standard deviation of each quantitative variable was calculated. We compared mean velocities (MV) by each side, and assessed the correlation between cerebral blood flow velocity and arterial pressure, hematocrit and the rest of variables. RESULTS: Mean and standard deviations of MV were: right MCA 73.10 14.33; left MCA 75.68 15.84; right ACA 57.61 12.92; left ACA 60.14 14.35; right PCA 42.77 9.28; left PCA 45.54 9.58. Statically significant higher values of MV in the left hemispheric arteries were found. The other analysed variables did not modify the MV values. CONCLUSIONS: In postpartum normotensive women MV values were higher in the left hemisphere. The knowledge of normal puerperium values for TCD is useful to identify cerebral hemodynamic pathological states such those in postpartum eclampsia and postpartum cerebral angiopathy.

Síndrome de Miller Fisher que complica una neumonía aguda por Mycoplasma pneumoniae / Miller Fisher syndrome in the course of an acute pneumonia by Mycoplasma pneumoniae

Caso clínico. Presentamos un caso de síndrome de Miller Fisher en el curso de una neumonía aguda por Mycoplasma pneumoniae. Conclusión. El desarrollo de un síndrome de Miller Fisher como complicación neurológica de una infección por Mycoplasmay en el curso agudo del proceso infeccioso es muy raro, ya que no se ha descrito previamente (AU)

Case report. We report a patient with Miller Fisher syndrome in the course of an acute pneumonia by Mycoplasma pneumoniae. Conclusion. Miller Fisher syndrome as a neurologic complication of mycoplasmal respiratory disease occurring at infection onset is very rare and has not been described previously (AU)

Velocimetría Doppler transcraneal en puérperas normotensas / Transcranial Doppler velocimetry in normotensive puerperal women

Objetivos. Conocer los valores normales de Doppler transcraneal (DTC) en puérperas normotensas (PNT) en nuestro medio.Evaluar la influencia de diferentes variables sobre el flujo sanguíneo cerebral. Pacientes y métodos. Se realizaron 100 estudios DTC en PNT, y se sonorizaron seis arterias intracraneales. Se recogieron diversas variables como presión arterial, hematocrito y datos clínicos referidos al embarazo y parto. Se realizó un análisis descriptivo en el caso de las variables cualitativas, y las variables cuantitativas se expresaron como media más desviación estándar (DE). Se compararon las velocidades medias (VM) de cada arteria según la lateralidad hemisférica, y su relación con las cifras tensionales, el hematocrito y el resto de las variables. Resultados. Las VM expresadas como media y DE fueron: ACM derecha 73,10ñ14,33; ACM izquierda 75,68ñ15,84; ACA derecha 57,61ñ12,92; ACA izquierda 60,14ñ14,35; ACP derecha 42,77ñ 9,28; ACP izquierda 45,54ñ9,58. Se comprobó un aumento de VM en las arterias de lateralidad izquierda con respecto a las de lateralidad derecha, estadísticamente significativo. Ninguna de las variables del estudio influyó en los valores de flujo sanguíneo cerebral. Conclusión.Los valores de VM fueron más altos en el hemisferio izquierdo. Resulta útil conocer valores de referencia puerperales en mujeres asintomáticas para poder identificar alteraciones hemodinámicas cerebrales propias de estados patológicos, como eclampsia tardía y angiopatía cerebral posparto (AU)

Objectives. To know transcranial Doppler (TCD) normal values in postpartum normotensive women. To evaluate the effect of different variables on cerebral blood flow velocity. Patients and methods. TCD examination was carried out in 100 postpartum normotensive women. Six intracranial arteries were evaluated. Different variables such as arterial pressure, hematocrit and clinical data related to pregnancy and delivery were recorded. A descriptive analysis of qualitative variables was made and the mean and standard deviation of each quantitative variable was calculated. We compared mean velocities (MV) by each side, and assessed the correlation between cerebral blood flow velocity and arterial pressure, hematocrit and the rest of variables. Results. Mean and standard deviations of MV were: right MCA 73.10±14.33; left MCA 75.68±15.84; right ACA 57.61±12.92; left ACA 60.14±14.35; right PCA 42.77±9.28; left PCA 45.54±9.58. Statically significant higher values of MV in the left hemispheric arteries were found. The other analysed variables did not modify the MV values. Conclusions. In postpartum normotensive women MV values were higher in the left hemisphere. The knowledge of normal puerperium values for TCD is useful to identify cerebral hemodynamic pathological states such those in postpartum eclampsia and postpartum cerebral angiopathy (AU)

Iconografía inusual en el síndrome de Klippel-Feil / Klippel-Feil syndrome: unusual iconography

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