Desafíos en el diagnóstico de enfermedad de Creutzfeldt-Jakob: Caso clínico

Ramírez, Marcos; Gallardo, Andrés; Vidal, Aaron; Cornejo, S.; Ramirez, Dario C.; Medinas, Danilo B.; Bustamante, Gonzalo; Pasquali, Renzo; Hetz, Claudio

doi:10.4067/s0034-98872016000600016

Cited by 4 publications

(6 citation statements)

References 19 publications

(21 reference statements)

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“…En un reporte de caso de ECJ en el cual se planteó como diagnóstico diferencial encefalitis de Hashimoto, se utilizó la detección de proteína 14-3-3 en líquido cefalorraquídeo (LCR) para apoyar el diagnóstico de ECJ (5) . Esto no se pudo realizar por indisponibilidad en nuestro centro.…”

Section: Discussionunclassified

Compromiso sensitivo y polineuropatía periférica como manifestación inicial de enfermedad de Creutzfeldt-Jakob. A propósito de un caso

Concha-Roco

et al. 2023

Rev. chil. neuro-psiquiatr.

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Creutzfeldt-Jakob disease is a rare neurodegenerative disease with a high incidence in Chile compared to the rest of the world. The condition is mainly characterized by the development of rapidly progressive dementia and various nonspecific neurological signs, the most common being myoclonus. The case that will be described below stands out for the atypical initial manifestations that the patient presented, such as sensory compromise in the cranio-cervico-dorsal region and peripheral polyneuropathy of the lower extremities, which meant a delay in the clinical diagnosis of the disease. It is important to know the different symptoms and signs that can be present in the clinical picture of CJD, both typical and those less frequent, in order to be able to diagnose the disease in earlier stages. Similarly, it is essential to have diagnostic tools such as the detection of 14-3-3 protein or Tau protein in health centers in our country. This would allow the health team to provide adequate and timely support management to these patients.

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Section: Discussionunclassified

Compromiso sensitivo y polineuropatía periférica como manifestación inicial de enfermedad de Creutzfeldt-Jakob. A propósito de un caso

Concha-Roco

et al. 2023

Rev. chil. neuro-psiquiatr.

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“…Para establecer su diagnóstico existen criterios; sin embargo, un diagnóstico definitivo requiere confirmación neuropatológica. 6,7 Un diagnóstico de ECJ probable requiere:…”

Section: Discussionunclassified

Síndrome hipercinético asociado a demencia rápidamente progresiva. Reporte de un caso de enfermedad de Creutzfeldt-Jakob en el Hospital General de México

Moreno-Aldama,

Mercado-Cortés

2023

Neurología, Neurocirugía Y Psiquiatría

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Creutzfeldt-Jakob disease (CJD) is a rare neurodegenerative condition with a fatal course; in Mexico its incidence is unknown; establishing the diagnosis is a challenge for the physician in our environment. And it should be suspected in the presence of rapidly progressing dementia associated with myoclonus, cerebellar involvement, visual and psychiatric disorders. The objective of this article is to present the case of a 59-year-old patient who presented with choreiform-type movement disorder and rapidly progressive cognitive impairment.

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“…Cuenta con un servicio de neurología hospitalaria, una unidad de electroencefalograma y un servicio de radiología, lo que permite realizar en todos los casos un estudio de imagen y electroencefalográfico adecuado en pacientes con demencia de curso rápidamente progresivo. En nuestro estudio, estimamos una incidencia acumulada de ECJ de 4,7 casos al año por millón de habitantes, lo que es concordante con el mayor número de casos reportados en nuestro país 7,8 .…”

Section: Discussionunclassified

“…La incidencia anual mundial de la ECJ esporádica es de 1-2 casos por millón de habitantes 2,4,6 , y según series nacionales, la incidencia en Chile sería mayor, con 3,5 casos por millón de habitantes 7,8 . Los criterios diagnósticos de la ECJ esporádica han cambiado a través de la historia, según la existencia de exámenes paraclínicos que apoyan la sospecha, siendo el diagnóstico definitivo neuropatológico.…”

Section: Servicio De Neurología Complejounclassified

Enfermedad de Creutzfeldt-Jakob: experiencia de 5 años en un hospital terciario de Chile

Legua-Koc¹,

Castillo-Torres

León-Mantero

et al. 2021

Rev. méd. Chile

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Background: Creutzfeldt-Jakob disease (CJD) is a prion affection that typically produces a rapidly progressive dementia with different neurologic and extra-neurologic manifestations. Aim: To characterize clinical, imaging and electroencephalography findings in patients with a probable CJD. Patients and Methods: A case series study of patients admitted in the Neurology department at a public hospital, between 2014 and 2019. Demographic, clinical, imaging, and electroencephalographic data of patients with probable CJD were analyzed. Results: Seventeen patients aged 63 ± 11 years (53% women) with a probable CJD were gathered. The incidence was 4.7 cases/year per million inhabitants. Twenty four percent of patients had a family history of CJD. The median time between the onset of symptoms and the hospital admission was three months with a survival of four months. The most common clinical manifestations were an amnesic syndrome in 88%, myoclonus in 76%, frontal syndrome and ataxia in 71%. Brain MRI was abnormal in all patients. The preponderant finding was the involvement of the caudate nucleus in 82% of cases. In the EEG, 94% of patients had abnormalities. All had a theta-delta slowing as a base rhythm. The pseudo-periodic pattern was observed in the 29% and status epilepticus in 18%. Conclusions: In this group of patients we observed the heterogeneity of the clinical manifestations of the disease, the frequent imaging and electroencephalographic alterations and the short evolution time leading to death.

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Desafíos en el diagnóstico de enfermedad de Creutzfeldt-Jakob: Caso clínico

Cited by 4 publications

References 19 publications

Compromiso sensitivo y polineuropatía periférica como manifestación inicial de enfermedad de Creutzfeldt-Jakob. A propósito de un caso

Compromiso sensitivo y polineuropatía periférica como manifestación inicial de enfermedad de Creutzfeldt-Jakob. A propósito de un caso

Síndrome hipercinético asociado a demencia rápidamente progresiva. Reporte de un caso de enfermedad de Creutzfeldt-Jakob en el Hospital General de México

Enfermedad de Creutzfeldt-Jakob: experiencia de 5 años en un hospital terciario de Chile

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