Heidenhain variant of Creutzfeldt-Jakob disease in Brazil: a case report / Variante Heidenhain da Doença de Creutzfeldt-Jakob no Brasil: um relato de caso

Creutzfeldt-Jakob disease (CJD) is a rare spongiform encephalopathy characterized by a rapid neurodegenerative progress, caused by a misfolded variant of the cellular prion protein (PrP) known as PrPSc. The clinical presentation of sCJD includes a wide range of neurological signs of cortical, subcortical, or cerebellar origin, either isolated or in various combinations. Due to this protean clinical presentation form, sCJD must be distinguished from other dementias. In this case report, we discuss the Heidenhain variant of Creutzfeldt-Jakob disease (HvCJD), a rare variant characterized by early visual symptoms and typical findings in imaging scans. Our patient presented rapidly progressive dementia and a history of visual hallucinations. As for other prion diseases, only symptomatic treatment is available for HvCJD. Thirty years of clinical investigation of patients with prion disease have resulted in little progress in either defining or evaluating potential treatments.

A doença de Creutzfeldt-Jakob (DCJ) é uma encefalopatia rara caracterizada por rápida progressão neurodegenerativa, causada pelo enovelamento incorreto da proteína priônica celular (PrP), conhecido como PrPSc. O quadro clínico da DCJ esporádica inclui um amplo espectro de sinais neurológicos de origens cortical, subcortical ou cerebelar, seja de forma isolada, seja combinada. Por causa da sua apresentação clínica variável, a DCJ esporádica deve ser distinguida de outras demências. Neste relato de caso, discutimos a variante Heidenhain da DCJ (vHDCJ), uma variante rara caracterizada por sintomas visuais precoces e características específicas no exame de imagem. Nossa paciente apresentou demência rapidamente progressiva e histórico de alucinações visuais. Assim como para as demais doenças priônicas, apenas o tratamento sintomático está disponível para a vHDCJ. Trinta anos de investigação clínica de pacientes com doença priônica têm resultado em pouco progresso, seja definindo os potenciais tratamentos, seja avaliando-os.

Doença de Creutzfeldt-Jakob: relato de caso / Creutzfeldt-Jakob disease: case report

As doenças priônicas fazem parte do grupo das síndromes de demência rapidamente progressiva com neurodegeneração. Em humanos, a doença de Creutzfeldt-Jakob é a mais prevalente. Atualmente, seu diagnóstico pode ser baseado em uma combinação do quadro clínico, ressonância magnética e eletroencefalograma com alterações típicas, juntamente da detecção de proteína 14- 3-3 no líquido cefalorraquidiano. Este relato descreve o caso de uma paciente de 74 anos, natural de Ubá (MG), admitida em um hospital da mesma cidade com quadro de demência de rápida progressão, com declínio cognitivo, ataxia cerebelar e mioclonias. No contexto clínico, aventou-se a possibilidade de doença de Creutzfeldt-Jakob e, então, foi iniciada investigação para tal, com base nos critérios diagnósticos. Também foram realizados exames para descartar a possibilidade de doenças com sintomas semelhantes. O caso foi diagnosticado como forma esporádica de doença de Creutzfeldt-Jakob. (AU)

Prion diseases are part of the rapidly progressive dementia syndromes with neurodegeneration. In humans, Creutzfeldt-Jakob disease is the most prevalent. Currently, its diagnosis may be based on a combination of clinical picture, magnetic resonance imaging, and electroencephalogram with typical changes, along with the detection of 14-3-3 protein in cerebrospinal fluid. This report describes the case of a 74-year-old woman from the city of Ubá, in the state of Minas Gerais, who was admitted to a hospital in the same city with a rapidly progressive dementia, cognitive decline, cerebellar ataxia and myoclonus. In the clinical context, the possibility of Creutzfeldt-Jakob disease was raised, and then investigation was started for this disease, based on the its diagnostic criteria. Tests have also been conducted to rule out the possibility of diseases with similar symptoms. The case was diagnosed as a sporadic form of Creutzfeldt-Jakob disease. (AU)

Doença de Creutzfeldt-Jakob: forma esporádica: relato de caso em paciente de 81 anos / Creutzfeldt-Jacob disease-sporadic form: case report of 81-year-old patient

As doenças priônicas são neurodegenerativas e possuem longo período de incubação, progredindo inexoravelmente, assim que os sintomas clínicos aparecem. A doença de Creutzfeldt-Jakob é a mais frequente das doenças priônicas, embora ainda seja rara. O quadro clínico dela é caracterizado por uma demência rapidamente progressiva, sintomas cerebelares e extrapiramidais, e a ressonância magnética, o eletroencefalograma e a análise do líquido cefalorraquidiano possuem achados típicos. Relatamos o caso de um paciente de 81 anos que se apresentou com declínio cognitivo rapidamente progressivo seguido, posteriormente, de mutismo acinético. Proteína 14-3-3 foi detectada no líquido cefalorraquidiano. A ressonância magnética revelou hipersinal do núcleo caudado e putâmen em imagem em difusão, T2 e FLAIR.(AU)

Prion diseases are neurodegenerative, and have long incubation periods, progressing inexorably once clinical symptoms appear. Creutzfeldt-Jakob disease (CJD) is the most frequent of the human prion diseases, although being still rare. The clinical picture of this disease is characterized by a rapidly progressing dementia, cerebellar and extrapyramidal symptoms, and rather specific magnetic resonance (MR), electroencephalography and cerebrospinal fluid (CSF) findings. We report the case of an 81-year-old patient who presented with rapidly progressive cognitive decline followed by akinetic mutism. Protein 14-3-3 in cerebrospinal fluid was detected. Magnetic resonance imaging findings revealed hyperintensity of the caudate and putamen in diffusion-weighted imaging, T2 Weighted sequences and FLAIR images. Patients who have progressive dementia should be evaluated by means of magnetic resonance imaging and cerebrospinal fluid analysis for Creutzfeldt-Jakob.(AU)

Desafíos en el diagnóstico de enfermedad de Creutzfeldt-Jakob: caso clínico / Creutzfeldt-Jakob disease: report of one case

Creutzfeldt-Jakob disease has a higher incidence in Chile than in other countries. The post mortem pathological characterization of brain tissue is necessary to reach a definitive diagnosis. We report a 73 years old man with a history compatible with of a rapidly progressive dementia, in which the first electroencephalographic study showed a pattern consistent with non-convulsive status epilepticus. Besides discarding this diagnosis, it was necessary to rule out other causes of rapidly progressive dementia such as Hashimoto encephalopathy. Finally, the sustained clinical deterioration with no response to anticonvulsants and corticosteroids, the imaging studies, a serial electroencephalographic monitoring study and the detection of 14-3-3 protein in cerebrospinal fluid were the keys to achieve the diagnosis of the disease.

Síndrome cortico-basal como una presentación clínica de una enfermedad de Creutzfeldt-Jakob esporádica / Corticobasal syndrome as a clinical spectrum of a sporadic Creutzfeldt-Jakob disease

La enfermedad de Creutzfeldt-Jakob (ECJ) es una enfermedad neurodegenerativa caracterizada por demencia rápidamente progresiva, mioclonías, compromiso motor y alteraciones características en los exámenes auxiliares; sin embargo existen presentaciones clínicas atípicas del cuadro. Presentamos un caso de ECJ esporádica en asociación clínica con un síndrome cortico-basal caracterizado por apraxia de extremidades, déficit sensorial cortical, fenómeno del miembro ajeno, bradicinesia y rigidez asimétricos; que es la presentación clásica de la degeneración corticobasal. Además los hallazgos en el electroencefalograma, resonancia magnética cerebral y resultado de la proteína 14-3-3 en LCR fueron compatibles con ECJ esporádico probable. Este caso sugiere que el compromiso neurológico asimétrico puede asociarse a ECJ esporádico...

Creutzfeldt-Jakob disease (CJD) is a neurodegenerative disease characterized by rapidly progressive dementia, myoclonus, motor impairment and typical features on complementary tests; however, unusual clinical features might be associated. We report one case of sporadic CJD associated with corticobasal syndrome characterized by asymmetric limb apraxia, cortical sensory impairment, alien limb phenomenon, bradykinesia and rigidity; which is the classic clinical spectrum of the corticobasal degeneration. In addition, findings in electroencephalography (EEG), brain magnetic resonance imaging (MRI) and positive CSF protein 14-3-3 were compatible with probable sporadic CJD. This case suggest that asymmetric neurologic impairment may be associated with sporadic CJD...

Encefalopatía espongiforme transmisible humana: reporte de un caso / Human transmissible spongiform encephalopathy: case report

Se presenta el caso de una mujer de 64 años con un cuadro clínico de ocho meses de duración, consistente en deterioro motor y cognitivo, que progresó rápidamente. Recibió tratamiento con quinacrina sin obtener beneficios y falleció en estado terminal, por choque séptico secundario a bronconeumonía por broncoaspiración. El cerebro fue donado para investigación y su estudio histopatológico reveló la presencia de lesiones espongiformes, astrogliosis y depósitos de proteína priónica (PrPRes) confirmados por Western blot. Todos estos rasgos se consideran característicos de la enfermedad por priones. Con este caso, no solo se informa sobre una enfermedad infrecuente en la casuística colombiana, sino que por primera vez en el país se usan simultáneamente la inmunohistoquímica y el Western blot como herramientas para el diagnóstico de estas enfermedades.

We report the case of a 64 year-old woman with motor and cognitive deterioration that progressed rapidly during eight months. She was unsuccessfully treated with quinacrine, and died in a terminal status, by septic shock secondary to bronchopneumonia by broncho-aspiration. The brain was donated for research and the histopathological analysis showed spongiform changes, astrogliosis and prion protein (PrPRes) deposits, confirmed by Western blot (WB). These features are considered characteristic of prion diseases, which are uncommon in Colombia. We highlight that its diagnosis was made for the first time in this country by the simultaneous use of immunohistochemistry and Western blot.

Enfermedad de creutzfeldt-jakob en el Perú: reporte de once casos / Creutzfeldt-jakob disease in Peru: report of eleven cases

La enfermedad de Creutzfeldt-Jakob (ECJ) es una enfermedad neurológica fatal producida por la isoforma patológica de la proteína priónica humana. Se reporta las características clínicas de seis casos de la forma esporádica de ECJ con diagnóstico definitivo por histopatología, y cinco casos con diagnóstico probable, en pacientes atendidos en el Instituto Nacional de Ciencias Neurológicas del Perú. La edad de inicio en los casos definitivos fue de 55,8 años y, en los probables, de 59,6 años, con predominio del sexo masculino. El tiempo de enfermedad fue de 8,8 meses. Se encontró un EEG típico en 50% de los casos definitivos y 80% de los probables. La proteína 14-3-3 en líquido cefalorraquídeo fue positiva en un caso probable y los hallazgos típicos en resonancia magnética se observaron en dos casos probables. Todos los casos cursaron con una evolución clínica típica de la enfermedad, y se considera el primer reporte de ECJ en el Perú.

Creutzfeldt-Jakob disease (CJD) is a fatal neurological disease caused by pathological isoform of the human prion protein. Clinical features of six cases of the sporadic form of CJD with definitive diagnosis by histopathology, and five cases with probable diagnosis were reported in patients treated at the Peruvian National Institute of Neurological Sciences. The average age of onset in definite cases was 55.8 years and in probable cases was 59.6, mostly males. The average disease duration was 8.8 months. A typical EEG was found in 50% of definite cases and in 80% of probable. The 14-3-3 protein in cerebrospinal fluid was positive in a probable case, and typical MRI findings were observed in two probable cases. All cases studied had a typical clinical course of the disease, and it is considered as the first report of CJD in Peru.

Aspectos clínicos e radiológicos da doença de Creutzfeldt-Jakob / Clinical and radiological aspects of creutzfeldt-jakob disease

O objetivo deste trabalho é revisar os aspectos clínicos e radiológicos da Doença de Creutzfeldt-Jakob. Esta cursa com demência progressiva e costuma ser fatal em um ano do início dos sintomas. Trata-se de uma patologia infecciosa de diagnóstico definitivo histopatológico. Métodos diagnósticos têm sido estudados a fim de prevenir sua transmissão precocemente. Dentre esses, tem se observado boa correlação clínica com a Ressonância Nuclear Magnética.

The goal of this paper is to review the clinical and radiological aspects of Creutfeldt-Jakob Disease. This presents with progressive dementia and is usually fatal within a year of the onset of symptoms. It is an infectious disease which definitive diagnostic is histopathological. Diagnostic methods have been studied in order to prevent its transmission by detecting it early. Among these methods has been observed good clinical correlation with Magnetic Resonance Imaging.

Creutzfeldt-Jacob disease: An autopsy case report in tertiary care hospital.

Sporadic Creutzfeldt-Jakob disease (CJD) is the most common prion disease. It is a rare, fatal neurodegenerative disease caused by an infectious protein called prion. The diagnosis can be confirmed only by histological examination of brain tissue. Because of the transmissible nature of the disease, autopsy or brain biopsy cannot be performed at many institutions. Histology shows spongiform changes, neuronal loss, reactive astrocytic proliferation, accumulation of pathologic protein occurring in three general forms: Sporadic, familial, and acquired form, including a variant form of CJD. It clinically presents as predominantly progressive dementia with a rapid onset, myoclonus, cerebellar, pyramidal, extra pyramidal and visual signs. Occurrence of periodical spikes in electro-encephalogram, observation of cortical signal alterations in magnetic resonance imaging (MRI) studies, and detection of protein 14-3-3 in cerebrospinal fluid substantiate diagnosis. Autopsy case is presented of a 50 year old woman with progressive dementia, typical neurological symptoms, MRI findings and confirmation of CJD on histology and immunostaining.

Enfermedad de Creutzfeldt-Jakob: reporte de dos casos / Creutzfeldt- Jakob disease: report of two cases

INTRODUCCIÓN: La enfermedad de Creutzfeldt-Jakob (ECJ) es una enfermedad priónica neurodegenerativa que afecta el Sistema Nervioso Central (SNC), invariablemente mortal. Clasificada en esporádica, familiar e iatrogénica, se manifiesta por cuadro demencial subagudo, síntomas motores, visuales, y mioclonías. Presenta electroencefalograma (EEG) con actividad espicular pseudoperiódica; resonancia agnética (RM) con hiperintesidad de núcleos estriados y áreas de corteza cerebral; y líquido céfalo raquídeo (LCR) con aumento de proteína 14-3-3. Finalmente, un estudio histopatológico del cerebro establece la encefalopatía espongiforme. PRESENTACIÓN DEL CASO: Se exponen dos casos de ECJ. Ambas mujeres, 44 y 67 años, con alteración de la marcha, deterioro cognitivo y mioclonías, cuadro rápidamente progresivo hasta la dependencia absoluta. EEG en ambos casos compatible con ECJ, además de imágenes que revelan hiperintensidad en núcleos estriados y/o zonas de la corteza. Ambas cursaron con infecciones durante su hospitalización y se les realizó gastrostomía por presentar trastorno deglutorio severo. DISCUSIÓN: El diagnóstico de ECJ se sospecha con la clínica, y se fundamenta con hallazgos característicos en RM, EEG y análisis de LCR. Ante la sospecha de la forma familiar se sugiere estudio genético, sin embargo, en el Hospital Clínico Herminda Martin (HCHM) no se realiza. Al ser una enfermedad invariablemente mortal y sin tratamiento, dificulta la decisión entre realización de estudios e intervenciones, contra el manejo expectante.

INTRODUCTION: Creutzfeldt-Jakob disease (CJD) is a neurodegenerativedisease caused by prions that affect the central nervous system. It’s invariably fatal. It can be classified as sporadic, familial and iatrogenic. It’s clinical features are subacute dementia, associated with motor and visual symptoms, as well as myoclonus. Electroencephalogram (EEG) shows pseudoperiodic spicular activity. Magnetic Resonance Imaging (MRI) presents with hyperintense signals in both striated corpus and some cerebral cortex areas. Cerebrospinal fluid (CSF) shows an increased level of 14-3-3 protein. Finally, histopathological study of brain states spongiform encephalopathy. CASE REPORT: We report two cases of CJD. Two women who started at ages 44 and 67 years old with abnormal gait, cognitive impairment and myoclonus, with rapid progression of symptoms to absolute dependence. EEG was compatible with the disease and imaging tests showed hyperintense signals in striatum and / or some areas of the cortex. Both patients coursed with infections during their hospitalization period and both underwent gastrostomy due to the presence of a severe swallowing disorder. DISCUSSION: The diagnosis of CJD is suspected based on the clinical findings and it is supported by characteristic features on MRI, EEG and CSF analysis. If the familial form of CJD is suspected, a genetic study is suggested however, in Herminda Martin Clinical Hospital (HCHM) this is not available. CJD is an invariably fatal disease and it doesn’t have any treatment. This makes difficult to choose between executing tests and interventions, and having an expectant management.

Encefalopatia espongiforme e príon inseridos em discussão de caso como decorrência do interrogatório meticuloso consecutivo à anamnese / Spongiform encephalopathy prion and inserted into case discussion as a result of meticulous interrogation subsequent to the interview

Contexto e objetivo: Revelações surpreendentes resultam do interrogatório, consecutivo à anamnese, promovendo considerações que enriquecem o conhecimento de professor e aluno.Estudo e local: Ensino curricular de Doenças Infecciosas e Parasitárias na Enfermaria do Departamento de Medicina da Escola Paulista de Medicina - Universidade Federal de São Paulo.Método: Programa para ensino de doutorandos e residentes sobre possíveis diagnósticos de pacientes recém-admitidos, com participação dos docentes ativos e dos aposentados, em atuação voluntária.Resultado: Exemplificação de como um por menor na história do doente pode ampliar o ensino.Conclusão: É conveniente proceder interrogatório detalhista que direcione a diagnose.

Dura Mater Graft-Associated Creutzfeldt-Jakob Disease: The First Case in Korea

Since 1987, dura mater graft-associated iatrogenic Creutzfeldt-Jakob disease (dCJD) has been reported in many countries. We report the first case of dCJD in Korea. A 54-yr-old woman, who underwent resection of the meningioma in the left frontal region and received a dura mater graft 23 yr ago presented with dysesthesia followed by psychiatric symptoms and ataxia. Her neurological symptoms rapidly progressed to such an extent that she exhibited myoclonus, dementia, and pyramidal and extrapyramidal signs within 8 weeks. The 14-3-3 protein was detected in her cerebrospinal fluid; however, an electroencephalogram did not reveal characteristic positive sharp wave complexes. Diffusion-weighted magnetic resonance images, obtained serially over 64 days, revealed the rapid progression of areas of high signal intensity in the caudate nucleus and cingulate gyrus to widespread areas of high signal intensity in the cortex and basal ganglia. Pathological examination of brain biopsy specimens confirmed the presence of spongiform changes and deposition of prion protein in the neurons and neuropils.

Enfermedad de Creutzfeldt-Jakob en un paciente interpretado como encefalitis por herpes simple / Creutzfeldt-Jakob disease in a patient with possible herpes simplex encephalitis

Se presentó un paciente con una enfermedad de Creutzfeldt-Jakob, al cual se le realizó un diagnóstico presuntivo inicial de encefalitis por herpes simple, que comenzó con trastornos conductuales, agresividad, alucinaciones visuales y pérdida progresiva de la visión, empeoró de forma paulatina, aparecieron movimientos involuntarios inespecíficos y estado de postración, convulsiones técnico-clínicas del hemicuerpo izquierdo, paresia homolateral, poca respuesta al dolor con empobrecimiento de la mímica facial e imposibilidad para localizar el estímulo nociceptivo y discreta rigidez nucal. Se le realizaron estudios microbiológicos para pesquisaje virológico incluido herpes virus, bacterias y hongos, así como análisis citoquímico del líquido cefalorraquídeo y resultaron normales, en el electroencefalograma aparecieron alteraciones que señalaron actividad paroxística asimétrica. El paciente evolucionó tórpidamente y falleció, se presenta el resultado de los estudios anatomopatológicos de la microscopia óptica

This is the case of a patient presenting with Creutzfeldt-Jakob disease with an initial presumptive diagnosis of herpes-simplex encephalitis started with behavioral disorders, aggression, visual hallucinations and a progressive loss of vision, worsening in a gradual way, non-specific unintentional movements and prostration status, left hemi-body tonic-clonic convulsions, homolateral paresis, a low response to pain with a poor facial expression and inability to locate the nociceptive stimulus and a light nuchal stiffness. Microbiologic studies were conducted for a virology screening including herpesvirus, bacteria and fungi, as well as, cytochemistry of cerebrospinal fluid with normal results, in electroencephalogram appeared alterations related to an asymmetric paroxysmal activity. Patient evolved with torpidity and died. Anatomic-pathologic studies result of optical microscopy is showed

Vigilância da doença de Creutzfeldt-Jakob e outras doenças priônicas: normas e instruções

Este manual tem como objetivo sistematizar o conhecimento sobre as doenças priônicas humanas, fornecendo orientações técnicas para os profissionais de saúde e de vigilância epidemiológica, em especial, para melhorar e promover a vigilância, prevenção e monitoramento da forma associada à transmissão alimentar devido à encefalopatia espongiforme bovina (EEB), conhecida como variante da Doença de Creutzfeldt-Jakob (vDCJ). As Encefalopatias Espongiformes Transmissíveis (EET)provocam degenerações fatais no cérebro, ocorrendo tanto no homem como em animais. A transmissibilidade e a patogenia destas doenças vêm sendo exaustivamente estudadas nos últimos anos, aceitando-se atualmente que o agente responsável é uma partícula proteinácea com capacidade infectante, denominado prion, e por isso, o agravo também é chamado de doença do prion ou priônica. O aparecimento de casos humanos de vDCJ no Reino Unido e países da Europa, representa um importante risco para todos os países do mundo até o presente não bem quantificado. Como forma de detectar...

Ten-year mortality from Creutzfeldt-Jakob disease in Cyprus

We report the mortality from sporadic Creutzfeldt-Jakob disease in Cyprus for a 10-year surveillance period [1995-2004]. In that time, 5 cases were identified out of a population of 749 000, giving an incidence of 0.7 cases per million population per year. Our sporadic incidence matches that expected according to global epidemiological surveillance. No cases of variant Creutzfeldt-Jakob disease were found but 1 familial case was diagnosed