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)

Acute cerebellar ataxia: differential diagnosis and clinical approach / Ataxia cerebelar aguda: diagnóstico diferencial e abordagem clínica

ABSTRACT Cerebellar ataxia is a common finding in neurological practice and has a wide variety of causes, ranging from the chronic and slowly-progressive cerebellar degenerations to the acute cerebellar lesions due to infarction, edema and hemorrhage, configuring a true neurological emergency. Acute cerebellar ataxia is a syndrome that occurs in less than 72 hours, in previously healthy subjects. Acute ataxia usually results in hospitalization and extensive laboratory investigation. Clinicians are often faced with decisions on the extent and timing of the initial screening tests, particularly to detect treatable causes. The main group of diseases that may cause acute ataxias discussed in this article are: stroke, infectious, toxic, immune-mediated, paraneoplastic, vitamin deficiency, structural lesions and metabolic diseases. This review focuses on the etiologic and diagnostic considerations for acute ataxia.

RESUMO A ataxia cerebelar é um achado comum na prática neurológica e tem uma grande variedade de causas, desde a degeneração cerebelar crônica e lentamente progressiva à lesão cerebelar aguda devido a infarto, edema ou hemorragia, configurando uma verdadeira emergência neurológica. Ataxia cerebelar aguda é uma síndrome que ocorre em menos de 72 horas em indivíduos previamente saudáveis. A ataxia aguda geralmente resulta em hospitalização e extensa investigação laboratorial. Os clínicos são frequentemente confrontados com a decisão sobre a extensão e o momento dos testes de rastreio iniciais, em particular para detectar as causas tratáveis. O principal grupo de doenças que podem causar ataxias agudas discutidas neste artigo são: acidente vascular cerebral, infecciosas, tóxicas, imunomediadas, paraneoplásicas, deficiência de vitaminas, lesões estruturais e doenças metabólicas. Esta revisão enfoca a etiologia e considerações diagnósticas para a ataxia aguda.

Cerebellar ataxia as presenting feature of hypothyroidism

SUMMARY Symptoms and signs of the hypothyroidism vary in relation to the magnitude and acuteness of the thyroid hormone deficiency. The usual clinical features are constipation, fatigue, cold intolerance and weight gain. Rarely it can present with neurologic problems like reversible cerebellar ataxia, dementia, peripheral neuropathy, psychosis and coma. Hypothyroidism should be suspected in all cases of ataxia, as it is easily treatable. A 40 year-old male presented with the history facial puffiness, hoarseness of voice and gait-ataxia. Investigations revealed frank primary hypothyroidism. Anti-TPO antibody was positive. Thyroxine was started and patient improved completely within eight weeks. Hypothyroidism can present with ataxia as presenting feature. Hypothyroidism should be considered in all cases of cerebellar ataxia as it is a reversible cause of ataxia.

Non-progressive cerebellar ataxia and previous undetermined acute cerebellar injury: a mysterious clinical condition / Ataxias cerebelares não-progressivas e lesão cerebelar aguda prévia indeterminada: uma condição clínica misteriosa

Cerebellar ataxias represent a wide group of neurological diseases secondary to dysfunctions of cerebellum or its associated pathways, rarely coursing with acute-onset acquired etiologies and chronic non-progressive presentation. We evaluated patients with acquired non-progressive cerebellar ataxia that presented previous acute or subacute onset. Clinical and neuroimaging characterization of adult patients with acquired non-progressive ataxia were performed. Five patients were identified with the phenotype of acquired non-progressive ataxia. Most patients presented with a juvenile to adult-onset acute to subacute appendicular and truncal cerebellar ataxia with mild to moderate cerebellar or olivopontocerebellar atrophy. Establishing the etiology of the acute triggering events of such ataxias is complex. Non-progressive ataxia in adults must be distinguished from hereditary ataxias.

Ataxias cerebelares representam um grupo amplo de doenças neurológicas secundárias a disfunções cerebelares ou das vias associadas, raramente cursando com etiologias adquiridas de início agudo e com evolução crônica não-progressiva. Nós avaliamos pacientes com ataxia cerebelar adquirida não-progressiva com apresentação prévia aguda ou subaguda. Foi realizada caracterização clínica e de neuroimagem de pacientes adultos com ataxia adquirida não-progressiva. Cinco pacientes foram identificados com o fenótipo clínico de ataxia adquirida não-progressiva. A maior parte dos pacientes apresentou início juvenil ou no adulto, de forma aguda ou subaguda, de ataxia cerebelar appendicular e de tronco com atrofia cerebelar ou olivopontocerebelar leve a moderada. Estabelecer a etiologia dos eventos agudos desencadeantes de tais ataxias é complexo. Ataxia não-progressiva em adultos deve ser diferenciada das ataxias hereditárias.

Neurological complications after H1N1 influenza vaccination: magnetic resonance imaging findings / Complicações neurológicas após vacinação para H1N1: achados de ressonância magnética.

Objective: To report 4 different neurological complications of H1N1 virus vaccination. Method: Four patients (9, 16, 37 and 69 years of age) had neurological symptoms (intracranial hypertension, ataxia, left peripheral facial palsy of abrupt onset, altered mental status, myelitis) starting 4-15 days after H1N1 vaccination. MRI was obtained during the acute period. Results: One patient with high T2 signal in the cerebellum interpreted as acute cerebellitis; another, with left facial palsy, showed contrast enhancement within both internal auditory canals was present, however it was more important in the right side; one patient showed gyriform hyperintensities on FLAIR with sulcal effacement in the right fronto-parietal region; and the last one showed findings compatible with thoracic myelitis. Conclusion: H1N1 vaccination can result in important neurological complications probably secondary to post-vaccination inflammation. MRI detected abnormalities in all patients. .

Objetivo: Relatar quatro diferentes complicações neurológicas da vacina contra o vírus H1N1. Método: Quatro pacientes (9, 16, 37 e 69 anos) tinham sintomas neurológicos (hipertensão intracraniana, ataxia, paralisia facial esquerda de inicio abrupto, estado mental alterado e mielite) iniciando-se 4 a 15 dias após vacinação contra H1N1. RM foi realizada em quatro pacientes na fase aguda e em um paciente na fase crônica. Resultados: Dos quatro pacientes, um apresentou hipersinal em T2 no cerebelo, interpretado como cerebelite aguda; um, com paralisia facial esquerda, tinha realce dos condutos auditivos internos, maior à direita; um tinha hipersinal em T2 no cortex parieto-occipital direito; um apresentou sinais compatíveis com mielite torácica. Conclusão: A vacinação contra o H1N1 pode resultar em importantes complicações neurológicas, provavelmente secundárias a inflamação pós-vacinal. A RM detectou anormalidades em todos os pacientes. .

Adult onset sporadic ataxias: a diagnostic challenge / Ataxias esporadicas de inicio no adulto: um desafio diagnostico

Patients with adult onset non-familial progressive ataxia are classified in sporadic ataxia group. There are several disease categories that may manifest with sporadic ataxia: toxic causes, immune-mediated ataxias, vitamin deficiency, infectious diseases, degenerative disorders and even genetic conditions. Considering heterogeneity in the clinical spectrum of sporadic ataxias, the correct diagnosis remains a clinical challenge. In this review, the different disease categories that lead to sporadic ataxia with adult onset are discussed with special emphasis on their clinical and neuroimaging features, and diagnostic criteria.

Pacientes com ataxia progressiva que se inicia na idade adulta, e sem histórico familiar da doença, são classificados no grupo das ataxias esporádicas. Existem várias categorias de doenças que podem se manifestar com ataxia esporádica, tais como: causas tóxicas, ataxias imunomediadas, deficiência de vitaminas, doenças infecciosas, doenças degenerativas e até mesmo condições genéticas. Considerando a heterogeneidade no espectro clínico das ataxias esporádicas, a definição da etiologia constitui um desafio diagnóstico. Neste artigo de revisão, realizamos uma discussão sobre as diferentes categorias de doenças que causam ataxia com início na idade adulta sem histórico familiar, com ênfase nas características clínicas, aspectos de imagem e critérios diagnósticos.

Avances en el tratamiento de las ataxias crónicas / [Therapeutic developments in chronic ataxias].

Autosomal recessive cerebellar ataxias belong to a broader group of disorders known as inherited ataxias. In most cases onset occurs before the age of 20. These neurological disorders are characterized by degeneration or abnormal development of the cerebellum and spinal cord. Currently, specific treatment is only available for some of the chronic ataxias, more specifically those related to a known metabolic defect, such as abetalipoproteinemia, ataxia with vitamin E deficiency, and cerebrotendinous xanthomatosis. Treatment based on a diet with reduced intake of fat, supplementation of oral vitamins E and A, and the administration of chenodeoxycholic acid could modify the course of the disease. Although for most of autosomal recessive ataxias there is no definitive treatment, iron chelators and antioxidants have been proposed to reduce the mitochondrial iron overload in Friederich’s ataxia patients. Corticosteroids have been used to reduce ataxia symptoms in ataxia telangiectasia. Coenzyme Q10 deficiency associated with ataxia may be responsive to Co Q10 or ubidecarenone supplementations. Early treatment of these disorders may be associated with a better drug response.

Ataxias agudas en la infancia / [Acute cerebellar ataxia in childhood].

Acute cerebellar ataxia of childhood is the most frequent neurological complication of chickenpox virus infection. Acute cerebellar ataxia is categorized within the group of acute postinfectious complications. The aims of this study were: (I) to evaluate the clinical presentation, management, and follow-up of children hospitalized due to acute cerebellar ataxia in a tertiary pediatric hospital, where immunization for chickenpox is not available, and (II) to describe the differential diagnosis of acute postinfectious cerebellitis. We evaluated 95 patients with acute cerebellar ataxia. The diagnostic criteria for acute ataxia were: Acute-onset loss of coordination or gait difficulties, with or without nystagmus, lasting less than 48 hours in a previously healthy child. All children met the inclusion criteria, except those with drug-induced ataxia in whom duration should be less than 24 hours for inclusion in the study. The data were recorded in a clinical pediatrics and neurological chart. Among immunosuppressed patients acute cerebellar ataxia was most frequently due to chickenpox. Most of the patients were male. Age at presentation ranged from preschool to 5 years of age. Time lapse between presentation of the rash and hospital admission ranged from 1 to 3 days. CSF study was performed in 59.5

of the cases. Brain magnetic resonance imaging and computed tomography scan showed edema in 33.3

. Intravenous acyclovir was used in 23 patients, however, no significant differences were found in clinical manifestations and follow-up between treated and untreated patients. Ataxia was the first clinical manifestation. Mean hospital stay ranged from 2 to 11 days with a mean of 4 days.

Cerebellar ataxia due to isolated vitamin E deficiency.

Ataxia is a common and important neurological finding in medical practice. Severe deficiency of Vitamin E can profoundly affect the central nervous system and can cause ataxia and peripheral neuropathy resembling Friedreich's ataxia. Vitamin E deficiency can occur with abetalipoproteinemia, cholestatic liver disease or fat malabsorption. Ataxia with isolated Vit E deficiency (AVED) is an Autosomal Recessive genetic disorder with a mutation in the alpha tocopherol transfer protein gene (TTPA). This condition responds to high dose of Vit E and is one of the important causes of treatable ataxia. We report a young patient with Ataxia with isolated Vit E deficiency (AVED) who responded partially to replacement of Vitamin E.

Neurological manifestations of celiac disease

A doença celíaca (DC, enteropatia sensível ao glúten) é desordem caracterizada por mal absorção causada por reação alérgica ao glúten, proteína presente em diversos cereais. As manifestações iniciais ocorrem nas primeiras quatro décadas de vida, sendo cerca de duas vezes mais freqüente no sexo feminino. DC pode estar associada a largo espectro de manifestações neurológicas incluindo ataxia cerebelar, epilepsia, demência, neuropatia, miopatia e leucoencefalopatia multifocal. Relatamos três casos de pacientes com manifestações neurológicas da DC: um com ataxia cerebelar, outro com epilepsia e o último com déficit cognitivo. O diagnóstico de DC foi estabelecido com base em testes sorológicos (anticorpos antiendomísio e antigliadina) e biópsia intestinal. Em dois pacientes as alterações neurológicas precederam as gastrointestinais. Em todos os casos a dieta livre de glúten não influenciou o quadro neurológico. Concluímos que o diagnóstico de DC deve ser considerado em pacientes com alterações neurológicas de etiologia indeterminada, incluindo ataxia, epilepsia e demência. Uma dieta sem glúten, a base do tratamento das manifestações gastrointestinais, não foi eficiente em melhorar os sintomas neurológicos em nossos pacientes.

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.

Acute disseminated encephalomyelitis--another cause of post malaria cerebellar ataxia.

The aetio-pathogenesis of delayed onset cerebellar ataxia following Plasmodium falciparum malaria is uncertain. An autoimmune demyelinating pathology has been suspected though not yet definitively substantiated. In the present communication we report a case of delayed onset cerebellar ataxia following acute falciparum malaria, where magnetic resonance imaging revealed demyelinating lesions in the pons and cerebellar peduncles which disappeared after resolution of symptoms.