Experiencia con la enfermedad de Creutzfeldt-Jakob de un único centro de referencia en México. Análisis de una serie de casos / Experience with Creutzfeldt-Jakob disease in a single referral center in Mexico. Case series

Resumen Introducción: La enfermedad de Creutzfeldt-Jakob (ECJ) es una enfermedad del sistema nervioso central rápidamente progresiva y mortal causada por priones. Objetivo: Presentar las principales características clínicas y paraclínicas de pacientes con probable ECJ en un centro de referencia de América Latina. Métodos: Estudio retrospectivo de pacientes diagnosticados con demencia rápidamente progresiva entre 2014 y 2019. Se incluyeron características clínicas, demográficas, del electroencefalograma, imágenes por resonancia magnética, proteína 14-3-3 y tomografía por emisión de positrones (PET), cuando estaba disponible. Resultados: Veinticuatro pacientes cumplieron con los criterios de ECJ esporádica (75 % mujeres), la edad media fue de 59.29 ± 11.67 años, la duración de la enfermedad desde el inicio de los síntomas hasta el ingreso hospitalario fue de 7.41 ± 6.54 meses y las primeras manifestaciones más comunes fueron las alteraciones del comportamiento (41.7 %). Los complejos de ondas delta prevalecieron en el electroencefalograma (54.2 %), la hiperintensidad cortical en la resonancia magnética (83.3 %) y el hipometabolismo frontal en la PET (37.5 %). En el análisis del líquido cefalorraquídeo, siete casos mostraron proteína tau total positiva; cinco, proteína 14-3-3 positiva; y tres, proteína tau hiperfosforilada positiva. Conclusiones: Existe importante heterogeneidad clínica en cuanto a los síntomas iniciales. Los hallazgos de las pruebas auxiliares coincidieron con los de otras series.

Abstract Introduction: Creutzfeldt-Jakob disease (CJD) is a rapidly progressive and fatal central nervous system disease caused by prions. Objective: To present the main clinical and paraclinical characteristics of patients with probable CJD in a referral center of Latin America. Methods: Retrospective study of patients diagnosed with rapidly progressive dementia between 2014 and 2019. Clinical, demographic, electroencephalogram, magnetic resonance imaging, and 14-3-3 protein characteristics were included, as well as positron-emission tomography (PET) data when available. Results: Twenty-four patients met the criteria for sporadic CJD (75% were women). Mean age was 59.29 ± 11.67 years, while mean disease duration from symptom onset to hospital admission was 7.41 ± 6.54 months. The most common first symptom was behavioral changes (41.7%). Delta wave complexes prevailed (54.2%) on electroencephalogram, cortical hyperintensity (83.3%) on magnetic resonance and frontal hypometabolism (37.5%) on PET. Seven cases showed positive total Tau; five, positive 14-3-3 protein; and three, positive phosphorylated tau on cerebrospinal fluid analysis. Conclusions: There is significant clinical heterogeneity regarding initial symptoms. Auxiliary test findings were consistent with those of other series.

Experience with Creutzfeldt-Jakob disease in a single referral center in Mexico. Case series.

INTRODUCTION: Creutzfeldt-Jakob disease (CJD) is a rapidly progressive and fatal central nervous system disease caused by prions. OBJECTIVE: To present the main clinical and paraclinical characteristics of patients with probable CJD in a referral center of Latin America. METHODS: Retrospective study of patients diagnosed with rapidly progressive dementia between 2014 and 2019. Clinical, demographic, electroencephalogram, magnetic resonance imaging, and 14-3-3 protein characteristics were included, as well as positron-emission tomography (PET) data when available. RESULTS: Twenty-four patients met the criteria for sporadic CJD (75% were women). Mean age was 59.29 ± 11.67 years, while mean disease duration from symptom onset to hospital admission was 7.41 ± 6.54 months. The most common first symptom was behavioral changes (41.7%). Delta wave complexes prevailed (54.2%) on electroencephalogram, cortical hyperintensity (83.3%) on magnetic resonance and frontal hypometabolism (37.5%) on PET. Seven cases showed positive total Tau; five, positive 14-3-3 protein; and three, positive phosphorylated tau on cerebrospinal fluid analysis. CONCLUSIONS: There is significant clinical heterogeneity regarding initial symptoms. Auxiliary test findings were consistent with those of other series.

INTRODUCCIÓN: La enfermedad de Creutzfeldt-Jakob (ECJ) es una enfermedad del sistema nervioso central rápidamente progresiva y mortal causada por priones. OBJETIVO: Presentar las principales características clínicas y paraclínicas de pacientes con probable ECJ en un centro de referencia de América Latina. MÉTODOS: Estudio retrospectivo de pacientes diagnosticados con demencia rápidamente progresiva entre 2014 y 2019. Se incluyeron características clínicas, demográficas, del electroencefalograma, imágenes por resonancia magnética, proteína 14-3-3 y tomografía por emisión de positrones (PET), cuando estaba disponible. RESULTADOS: Veinticuatro pacientes cumplieron con los criterios de ECJ esporádica (75 % mujeres), la edad media fue de 59.29 ± 11.67 años, la duración de la enfermedad desde el inicio de los síntomas hasta el ingreso hospitalario fue de 7.41 ± 6.54 meses y las primeras manifestaciones más comunes fueron las alteraciones del comportamiento (41.7 %). Los complejos de ondas delta prevalecieron en el electroencefalograma (54.2 %), la hiperintensidad cortical en la resonancia magnética (83.3 %) y el hipometabolismo frontal en la PET (37.5 %). En el análisis del líquido cefalorraquídeo, siete casos mostraron proteína tau total positiva; cinco, proteína 14-3-3 positiva; y tres, proteína tau hiperfosforilada positiva. CONCLUSIONES: Existe importante heterogeneidad clínica en cuanto a los síntomas iniciales. Los hallazgos de las pruebas auxiliares coincidieron con los de otras series.

Reversible Cerebral Vasoconstriction Syndrome Associated with Infundibular Dilation.

BACKGROUND: Reversible cerebral vasoconstriction syndrome (RCVS) is defined as a clinical and radiological syndrome that comprises a group of disorders characterized by sudden-onset severe headache and segmental vasoconstriction of the cerebral arteries with resolution within 3 months. CASE PRESENTATION: A 51-year-old female patient with a 2-week history of sudden-onset severe headache, visual disturbances and cerebellum; no relevant imaging findings, except for an infundibular dilation at the origin of the posterior communicating artery, and so, angiography was performed. When symptoms persisted, a new imaging study was carried out with findings of RCVS as the cause of the symptoms from the beginning. CONCLUSIONS: Findings of RCVS can be obtained in various vasculopathies of the nervous system and vasculitis, being misdiagnosed, and so, clinical suspicion is essential; if vasoconstriction is not demonstrated on the initial image and other diagnoses have been excluded, the patient should be managed as having possible or probable RCVS. LEARNING POINTS: RCVS is a clinical and radiological syndrome that comprises a group of disorders characterized by sudden-onset severe headache and segmental vasoconstriction of the cerebral arteries.It can occur spontaneously or can be triggered by a specific "trigger" in 25 to 60% of cases.It commonly affects women between 20 and 50 years of age, but children and adolescents may also be affected.

Symmetrical and bilateral basal ganglia calcification. Case series and literature review. / Calcificación simétrica y bilateral de ganglios basales. Serie de casos y revisión de la literatura.

Introduction: Symmetric, bilateral basal ganglia calcification is rare finding that sometimes occurs asymptomatically. Its prevalence increases with age, and the most affected site is the globus pallidus. Report of cases: A series of seven cases with clinical and imaging diagnosis of basal ganglia calcification, recorded during the 2012 to 2016 period at the Department of Internal Medicine of the Hospital Civil de Guadalajara "Fray Antonio Alcalde, is presented. Most common clinical presentation was with altered alertness, headache and seizures. There was one case with movement disorders; there were no cases identified with dementia or tetany. Conclusion: Ganglia calcification can be associated with age-related neurodegenerative changes, but it can be an initial manifestation of a variety of systemic pathologies, including disorders of the calcium metabolism, intoxication by different agents, and autoimmune and genetic diseases. Correlation of typical imaging findings with clinical manifestations and laboratory results should be established to reach a definitive judgment.

Introducción: La calcificación bilateral y simétrica de los ganglios basales es un hallazgo infrecuente que a veces no ocasiona síntomas. Su prevalencia aumenta con la edad y el sitio más afectado es el globo pálido. Reporte de casos: Se describe una serie de siete casos con diagnóstico clínico y por imagen de calcificación de ganglios basales, atendidos entre 2012 y 2016 en el Servicio de Medicina Interna del Hospital Civil de Guadalajara Fray Antonio Alcalde. Las manifestaciones clínicas más comunes fueron alteración del estado de alerta, cefalea y crisis convulsivas. Se identificó un caso con trastornos del movimiento; no hubo casos con demencia o tetania. Conclusión: La calcificación de los ganglios puede estar relacionada con cambios neurodegenerativos por la edad, pero puede ser la manifestación inicial de una variedad de patologías sistémicas, incluyendo trastornos del metabolismo del calcio, intoxicación por diversos agentes, enfermedades autoinmunes y genéticas. Se debe hacer la correlación de los hallazgos de imagen típicos con manifestaciones clínicas y resultados de laboratorio para llegar a un dictamen definitivo.

Bilateral Third Nerve Palsy in Mirror Aneurysms of the Posterior Communicating Arteries.

BACKGROUND: Bilateral third cranial nerve palsy has only been reported in a handful of conditions including some with inflammatory, tumoural and vascular causes. An urgent imaging study is mandatory to rule out vascular aetiology, mainly aneurysmal subarachnoid haemorrhage (aSAH). CASE PRESENTATION: A 28-year-old Hispanic woman presented to the emergency department with a 21-day history of a sudden-onset and severe headache that on three occasions was accompanied by transient loss of awareness, the last episode occurring a week previously. The simple CT image showed minimal bleeding at the level of the perimesencephalic cisterns, with evidence of SAH. An angioCT revealed a 5×6 mm bilobed saccular aneurysm of the right posterior communicating artery and a 2×2 mm saccular aneurysm in the posterior left communicating artery. CONCLUSIONS: A mirror aneurysm is found in 2-25% of aSAH cases. To date there is no consensus about the optimal management of patients with these findings. LEARNING POINTS: The presence of third cranial nerve palsy should always raise the suspicion of an aneurysm.Subarachnoid haemorrhage is the most common cause of a thunderclap headache.Aneurysmal subarachnoid haemorrhage requires surgical management in all cases.