[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.

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.

Can patients without early, prominent visual deficits still be diagnosed of posterior cortical atrophy?

BACKGROUND: Early and progressive disabling visual impairment is a core feature for the diagnosis of posterior cortical atrophy (PCA). However, some individuals that fulfil criteria over time might initially present with an onset of prominent posterior dysfunction other than visuoperceptual. METHODS: The clinical profile of five patients with a predominantly 'non-visual' posterior presentation (PCA2) was investigated and compared with sixteen individuals with visually predominant PCA (PCA1) and eighteen with typical amnestic Alzheimer disease (tAD). RESULTS: PCA2 patients showed significantly better performance than PCA1 in one visuospatial task and were free of Balint's syndrome and visual agnosia. Compared to tAD, PCA2 showed trends towards significantly lower performance in visuoperceptual tasks, more severe apraxia and more symptoms of Gerstmann's syndrome. CONCLUSIONS: Our sample of PCA2 patients did not present with clinically prominent visual symptoms but did show visual dysfunction on formal neuropsychological assessment (less pronounced than in PCA1 but more than in tAD) in addition to other posterior deficits. Broadening the definition of PCA to encompass individuals presenting with prominent 'non-visual' posterior dysfunction should be potentially considered in clinical and research contexts.

Vincristine-induced acute neurotoxicity versus Guillain-Barré syndrome: a diagnostic dilemma.

We report the case of a patient with acute lymphoblastic leukaemia who, after the initiation of treatment with vincristine (VCR), developed a fulminant motor polyradiculoneuropathy resembling an axonal variant of Guillain-Barré syndrome (GBS). This report shows that differentiating between axonal GBS and VCR-induced acute neurotoxicity may be a challenge for clinicians.

Cerebral hemodynamic changes after carotid angioplasty and stenting.

BACKGROUND AND PURPOSE: Carotid angioplasty stent placement (CAS) is an accepted alternative to endarterectomy. However, little is known about its effect on cerebral hemodynamics. We prospectively studied the early and delayed hemodynamic changes after CAS. MATERIALS AND METHODS: Sixty patients underwent CAS for >or=70% internal carotid artery stenosis. Transcranial Doppler (TCD) was done before, 6 hours, and 30 days after CAS. Cerebrovascular reserve to apnea (CVR) was measured. RESULTS: On the ipsilateral side, basal middle cerebral artery (MCA) middle flow velocity (MFV) and pulsatility index (PI) increased from 49.7 cm/s and 0.85, respectively, to 62.5 cm/s and 1.09 immediately after CAS (P < .05); anterior cerebral artery (ACA) MFV and PI increased from 50.7 cm/s and 0.90, to 58.9 cm/s and 1.08 (P < .05); and posterior cerebral artery (PCA) MFV decreased from 47.5 to 36.5 cm/s, with no change in PI (P < .05). On the contralateral side, nonsignificant changes were seen on MCA, immediately after CAS; ACA and PCA MFV decreased from 63.7 and 45.3 cm/s to 50.3 and 38.6 cm/s, respectively (P < .05); ACA and PCA PI increased from 0.96 and 1.00, respectively, to 1.04 and 1.04 (P < .05). At 30 days, ipsilateral MCA MFV and PI were 52.8 cm/s and 1.12, respectively (P < .05), and contralateral values were 49.6 cm/s (P < .05) and 1.02 (nonsignificant), respectively. Basal ipsilateral and contralateral CVR improved from 26.0% to 37.0% (P < .05), and from 30.1% to 33.5% (nonsignificant), respectively, at 30 days. CONCLUSIONS: CAS produces an early significant increase of MFV and PI in the ipsilateral anterior circulation. This effect is maintained, though minor, 30 days later. In addition, CAS results in an improvement of CVR at 30 days.

[Infiltration of the meninges or brain by a non-Hodgkin's lymphoma, diagnosed by flow cytometry in cerebrospinal fluid]. / Infiltracion meningea y cerebral por un linfoma no Hodgkin, diagnosticada por citometria de flujo en liquido cefalorraquideo.

INTRODUCTION: Two forms of growth are reported in the neuroradiology of cerebral lymphomas: mass, single or multiple lesions, with homogeneous contrast enhancement, and diffuse infiltration. Flow cytometry enables us to diagnose non-Hodgkin's lymphoma, when clonality of B cells is detected. It is usually employed with peripheral blood or bone marrow samples but can be used with cerebrospinal fluid (CSF). CASE REPORT: We report the case of a 68-year-old female, who was admitted to hospital because of rapidly progressive onset of confusion and right-side hemiparesis that developed in a matter of days. Magnetic resonance imaging (MRI) of the head showed a diffuse infiltrative lesion, without contrast enhancement, which covered the left basal nuclei, the left frontal white matter, the genu of the corpus callosum and the right frontal white matter. The CSF showed slight pleocytosis (20 cells/mL) and a notable degree of hypoglycorrhachia (10 mg/dL). The cytological examination only revealed lymphocytes, with no data indicating atypicality. The flow cytometry assay detected large mononuclear B cells, with the CD19 + CD20 + CD10-lambda phenotype, which is characteristic of diffuse non-Hodgkin's lymphoma of large B cells. The clinical course ran quickly towards a fatal outcome; it progressed to left-side hemiplegia and coma, and the patient died two weeks after admission to hospital. CONCLUSIONS: In cases of cerebral lymphoma, especially when the neuroradiological pattern displays diffuse infiltration and there are anomalies involving CSF, the flow cytometry in CSF can be diagnostic, thus avoiding the need for other invasive brain procedures to deal with lesions that are usually located deep inside the brain at badly defined sites.

[Cerebral haemorrhage in Sneddon's syndrome: case report and literature review]. / Hemorragia cerebral en el síndrome de Sneddon: caso clínico y revisión de la bibliografía.

INTRODUCTION: Sneddon's syndrome is the association between livedo reticularis and stroke. Hemorrhagic strokes in Sneddon's syndrome are exceptional. CASE REPORT: A 39-year-old woman who had had a livedo reticularis for about 14 years attended the Emergency Unit complaining of sudden, severe headache and numbness and weakness in her left extremities. Physical examination revealed left supranuclear facial palsy and left crural hemiparesis and hemihypoalgesia. Cranial CT showed a right parieto-occipital lobar haemorrhage. Immunological studies, including antiphospholipid antibodies, were negative. A cerebral angiography showed anomalies in most distal branches of intracranial arteries. Biopsies of the skin and digital arteries yielded non conclusive results. CONCLUSION: The association between livedo reticularis and stroke, together with the angiographic findings led us to the diagnosis of Sneddon's syndrome. When comparing our case with similar ones, we must point out to its onset with a hemorrhagic stroke and to the lobar location of the bleeding.

[Transcranial Doppler velocimeter in pregnant and later normotensive puerperal women]. / Velocimetría Doppler transcraneal en gestantes y posteriormente puérperas normotensas.

INTRODUCTION: The physiological changes that take place in blood flow in the brain during pregnancy and the puerperium are still only poorly understood. The harmlessness of transcranial Doppler (TCD) makes it a suitable method of study. AIMS: The purpose of this study was to determine the TCD velocimeter reading at the end of pregnancy and in the early puerperium of healthy expectant mothers. SUBJECTS AND METHODS: TCD was used to perform a bilateral study of the anterior (ACA), middle (MCA) and posterior cerebral arteries (PCA). Arterial blood pressure and haematocrit were also measured. Mean velocity (MV), the pulsatility index (PI), mean arterial blood pressure and haematocrit were employed as variables in the statistical analysis. Results from 44 normotensive pregnant women in the latter stages of gestation (week 33 to term) were compared with those of a control group made up of 58 women of a similar age, who were normotensive and not pregnant. The study was repeated in the group of pregnant women during the early puerperium (the first five days after labour) and the two different results were compared. RESULTS: Age and MAP were similar in the gestating and non-gestating groups. Haematocrit was significantly lower in the former (p < 0.001) and MV were significantly lower in the pregnant women in all the arteries (p < 0.001), whereas the PI were also significantly lower in four of the six territories that were studied (p < 0.005). During the puerperium, a significant rise in MV was observed in all the arteries (p < 0.001) and the PI increased in three of them (p < 0.05). In this phase, the mean arterial pressure rose (p < 0.05), although haematocrit levels dropped (p < 0.001). CONCLUSIONS: The low MV and PI seen at the end of pregnancy are compatible with cerebral vasodilatation. MV increase during the early puerperium and is probably linked to a relative hyperperfusion.

[Anomalies in brain haemodynamics in pre-eclamptic expectant mothers]. / Anomalías hemodinámicas cerebrales en gestantes con preeclampsia.

INTRODUCTION: Transcranial Doppler (TCD) is being used more and more frequently in the study of brain haemodynamics in pre-eclampsia/eclampsia. It has received less attention in the puerperium of these patients. AIMS: The aim of our study was to compare pre-eclamptic (PE) and normotensive (NT) patients at the end of gestation, using a Doppler velocimeter, and also to compare the results from PE women in two consecutive periods of time: at the end of gestation and in early puerperium (EP). PATIENTS AND METHODS: TCD was performed with bilateral evaluation of the anterior, middle and posterior cerebral arteries (ACA, MCA and PCA, respectively). Average speed (AS) and the pulsatility index (PI) were used as Doppler parameters. Arterial blood pressure (BP) and haematocrit were also measured. The AS, PI, average BP (ABP) and haematocrit were used as variables in the statistical analysis. At the end of gestation (33 weeks to full term) we compared the average values of these variables in PE (n=38) against those of NT (n=44). We also compared the results obtained for PE (n=30) in two consecutive periods: at the end of gestation and EP (the first five days following childbirth). RESULTS: At the end of gestation, AS were significantly higher in the PE than in the NT in all the arteries that were examined. The ABP was higher in the first group but there was no significant correlation between ABP and AS. PI were lower in the first group, with statistical signification in four of the six arteries. The AS rose significantly in the EP of the PE women, in spite of the existence of a drop in the ABP. Conversely, the PI remained unaltered. CONCLUSIONS: A pattern of high AS and low PI was found in PE women at the end of gestation and may be due to a primary failure of the brain's capacity to regulate itself. Anomalies in the TCD increased in the EP, despite a drop in the ABP, and this could account for the predominance of the neurological symptoms that are reported in the later forms of the syndrome.

[The onset of an anaplastic ganglioglioma during the post-natal period with signs of toxemia of pregnancy]. / Inicio de un ganglioglioma anaplásico durante un puerperio con signos de toxemia gravídica.

INTRODUCTION: Gangliogliomas are infrequent neuronoglial tumours which present in youngsters and are usually located in the temporal lobe. They usually appear with epileptic seizures and prognosis after surgical excision is usually good. The anaplastic forms are even less frequent and prognosis is poorer. The onset of epileptic seizures during the early post-natal period means that the clinician has to resort to a broad differential diagnosis. CASE REPORT: Hours after a preterm birth, at the 32nd week of gestation, a 35-year-old primipara began to suffer seizures and also presented arterial hypertension, proteinuria and a low platelet count. A cranial computerized tomography scan was carried out where a left frontal hypodense lesion was observed. Transcranial echo Doppler scan showed medium speeds and suggested eclampsia. The seizures, however, recurred during the days that followed and a magnetic resonance scan of the head revealed a lesion with nodular contrast enhancement, which was excised, and finally an anatomopathological diagnosis of an anaplastic ganglioglioma was reached. DISCUSSION: The toxemia of pregnancy, which gave rise to a vasogenic cerebral edema, accelerated the clinical onset of a brain tumour during the post-natal period. A ganglioglioma, although infrequent, is always a possibility to be borne in mind in young patients.

[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.