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)

Retracción palpebral de causa neurológica: presentación de tres pacientes, interpretación patogénica / Eyelid retraction of neurologic origin: report of three cases

Eyelid retraction, has received limited attention and it has passively been interpreted as the result of an overactive levator palpebrae superioris muscle secondary to midbrain injury. However, eyelid retractions can occur in other neurological diseases, not directly related with the midbrain. We report three patients who developed eyelid retraction. One patient had a bilateral eyelid retraction, related with Creutzfeldt-Jakob disease (CJD). Another patient had a unilateral right eyelid retraction associated with a thalamic-mesencephalic infarct. The third patient had a bilateral pontine infarction on magnetic resonance imaging. In the patient with CJD, eyelid retraction did not subside. Among patients with infarctions, the retraction persisted after focal symptoms had subsided, showing an evolution that was apparently independent of the basic process. The analysis of these patients allows us to conclude that the pathogenesis of eyelid retraction includes supranuclear mechanisms in both the development and maintenance of the phenomenon. Unilateral or bilateral eyelid retraction does not alter the normal function of eyelid, which ever had normal close eye blink. In these reported cases, a hyperactivity of levator palpebrae superioris muscle was clinically ruled out.

Creutzfeldt-Jakob disease : report of 10 cases from North India.

Creutzfeldt-Jakob disease (CJD) is increasingly being reported over the last three decades as a result of heightened awareness of the disease. Various studies have reported annual incidence of 0.5-1.5 cases of CJD per million of general population. In India, the disease is still under reported. Over the period spanning from 1968-1997, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore recorded 69 cases of CJD from different parts of India in the CJD registry. This paper describes the clinical experience with cases of CJD managed at the Department of Neurology, G.B. Pant Hospital, New Delhi from 1990-1998. In this series, the mean age of the patients was 53.80 (+/- 7.32) years and there were 5 females and 5 males. Myoclonus was present in all the cases and abnormal behaviour with or without other features was the presenting complaint in 7 of the 10 patients, while one patient of CJD had cerebellar ataxia as the presenting feature. One patient with occipital variant of CJD presented with acute onset cortical blindness and myoclonic jerks. One of the patients had acute psychosis precipitated by emotional stress at the onset. Extrapyramidal features were noted in 7 of the 10 patients before death. The mean duration of symptoms from the onset of disease to death was 6.6 (+/- 6.11) months. Classical EEG changes were observed in all the patients, except in one possible case of occipital variant of CJD, where we did not have access to EEG record. Brain biopsy could be undertaken in 3 patients, and in 2 patients the features of subacute spongiform encephalopathy (SSE) were noted.

Doença de Creutzfeldt-Jakob: a propósito de um caso com comprometimento medular / Creutzfeldt-Jakob disease: case report with spinal cord involvement

A doença de Creutzfeldt-Jakob (DCJ) é a encefalopatia espongiforme subaguda transmissível mais frequente nos seres humanos. Aproximadamente 85 por cento dos casos pertencem à forma esporádica da doença. Os outros 15 por cento consistem na forma genética e iatrogênica. Relatamos o caso de uma paciente com a forma esporádica da doença de Creutzfeldt-Jakob, com comprometimento medular e apresentaçäo clínica caracterizada por síndrome demencial e cerebelar, miofasciculaçäo com arreflexia difusa e crises convulsivas do tipo tônico-clônico generalizada. É rara a associaçäo das duas últimas manifestaçöes clínicas. O caso foi considerado como provável DCJ até confirmaçäo por autópsia e imunohistoquímica. Concluímos que se deve sempre pensar na DCJ em pacientes que apresentam demência rapidamente progressiva e, na ausência de sinais piramidais ou extrapiramidais, pensar em acometimento periférico e/ou medular

Stroke like presentation of Creutzfeldt Jakob disease: an unusual variant.

Creutzfeldt-Jakob disease (CJD) is a degenerative process of the brain, induced by novel infectious agent or prion, and is usually characterized by a rapidly progressive dementia in association with myoclonus. However different patterns of disease presentation have been identified. The authors describe three probable cases of CJD. None of them had positive family history or any known modes of iatrogenic transmission. Interestingly, all the cases presented like a stroke. This is the first series of CJD cases from this part of country.

Enfermedad de Creutzfeldt-Jakob en un paciente con infartos cerebrales múltiples / Creutzfeldt-Jakob syndrome in a patient with multiple cerebral infarctions

Se presentó el caso de un paciente con enfermedad de Creutzfeldt-Jakob, con antecedentes de enfermedad cerebrovascular isquémica previa y un cuadro típico de demencia, ataxia, mioclonías y cambios típicos en el electroencefalograma con imagenología sugestiva de infartos cerebrales múltiples. Su diagnóstico sobre todo se basó en la clínica y en los cambios anatomopatológicos que sí eran típicos de tal entidad. El paciente falleció de complicaciones intercurrentes, en el curso de un estado demencial profundo con postración y dependencia completa

Enfermedades por priones / Prion's disease

La autoreplicación del prion cumple un papel esencial en la patogenia de este grupo de afecciones caracterizadas por la producción de encefalopatías espongiformes, tanto en los casos determinados por un factor genético hereditario como en los provocados por iatrogenia o posiblemente por la ingestión de alimentos o sustancias contaminadas. En ambos casos la producción de una variante conformacional de la proteína prion plantea incógnitas por su mecanismo de replicación sin la intervención de DNA o RNA. Finalmente la implicancia de la epidemia en el ganado bovino aparecida hace más de 10 años en inglaterra, resulta inquietante a la luz de la nueva variante de este origen comunicada en 1996 en los seres humanos.