ABSTRACT
BACKGROUND: Progressive Myoclonic Epilepsy (PME) is a group of rare diseases that are difficult to differentiate from one another based on phenotypical characteristics. CASE REPORT: We report a case of PME type 7 due to a pathogenic variant in KCNC1 with myoclonus improvement after epileptic seizures. DISCUSSION: Myoclonus improvement after seizures may be a clue to the diagnosis of Progressive Myoclonic Epilepsy type 7.
Subject(s)
Myoclonic Epilepsies, Progressive , Seizures , Humans , Myoclonic Epilepsies, Progressive/complications , Myoclonic Epilepsies, Progressive/diagnosis , Seizures/diagnosis , Seizures/complications , Seizures/etiology , Seizures/drug therapy , Myoclonus/diagnosis , Myoclonus/etiology , Myoclonus/complications , Myoclonus/drug therapy , Male , Shaw Potassium Channels/genetics , Female , Electroencephalography/methodsABSTRACT
INTRODUCTION: Juvenile myoclonic epilepsy (JME) is an epileptic syndrome with onset in childhood and adolescence with myoclonus, absences, and generalized tonic-clonic seizures. Reflex stimuli such as sensitivity to light or photosensitivity, eyelid opening and closing, and praxis induction produce epileptiform discharges and seizures. These reflex triggers are not all systematically studied. OBJECTIVE: Examine reflex features in patients with JME. METHODS: One hundred adolescents and adults with JME who received different anti-seizure treatments were evaluated consecutively. A standard electroencephalogram was performed with an intermittent light stimulation (SLI) protocol and another for the evaluation of praxias through neurocognitive activity (CNA). The statistical analysis was descriptive and of correlation with a p > 0.05. RESULTS: Current age was 28±11 (14-67). The seizure began at 15 years ±3 (Range 8-25 years). They presented myoclonus and generalized tonic-clonic seizures in 58%. 50% received valproic acid and 31% continued with seizures. Epileptiform discharges at rest 20%; hyperventilation 30%; eyelid opening and closing 12%; photoparoxysmal response in SLI 40%; CNA 23%. Higher percentage of discharges and delay in performing CNA in those who presented seizures. Valproic acid compared to other drugs did not demonstrate superiority in seizure control. CONCLUSIONS: These findings confirm the importance of studying reflex traits for diagnosis, follow-up, and therapeutic control.
Introducción: La epilepsia mioclónica juvenil (EMJ) es un síndrome epiléptico de inicio en la infancia y adolescencia con mioclonías, convulsiones tónico-clónicas generalizadas y ausencias. Los estímulos reflejos como la sensibilidad a la luz o fotosensibilidad, la apertura y cierre palpebral y la inducción por praxias producen descargas epileptiformes y crisis. Estos desencadenantes reflejos no son todos sistemáticamente estudiados. OBJETIVO: Examinar los rasgos reflejos en pacientes con EMJ. Métodos: Se evaluaron en forma consecutiva 100 adolescentes y adultos con EMJ que recibían diferentes tratamientos anticrisis. Se realizó un electroencefalograma standard con un protocolo de estimulación luminosa intermitente (ELI) y otro para la evaluación de las praxias a través de una actividad neurocognitiva (ANC). El análisis estadístico fue descriptivo y de correlación. Se consideró significativa una p > 0.05. RESULTADOS: La edad actual fue de 28±11 (14-67). Las crisis comenzaron a los 15 años ±3 (Rango 8-25 años). EL 58% presentaron mioclonías y convulsiones tónico clónicas generalizadas. El 50% recibían ácido valproico y el 31% continuaban con crisis. Descargas epileptiformes en reposo 20%; hiperventilación 30%; apertura y cierre palpebral 12%; respuesta fotoparoxística en la ELI 40%; ANC 23%. Mayor porcentaje de descargas y demora en la realización de la ANC en los que presentaban crisis. El ácido valproico comparado con los otros fármacos no demostró superioridad en el control de las crisis. CONCLUSIONES: Estos hallazgos confirman la importancia del estudio de los rasgos reflejos para el diagnóstico, seguimiento y el control terapéutico.
Subject(s)
Epilepsies, Myoclonic , Myoclonic Epilepsy, Juvenile , Myoclonus , Adult , Adolescent , Humans , Myoclonic Epilepsy, Juvenile/diagnosis , Myoclonic Epilepsy, Juvenile/drug therapy , Valproic Acid/therapeutic use , Electroencephalography , Reflex , SeizuresABSTRACT
SUMMARY: Diagnosing and characterizing myoclonus can be challenging. Many authors agree on the need to complement the clinical findings with an electrophysiological study to characterize the movements. Besides helping to rule out other movements that may look like myoclonus, electrophysiology can help localize the source of the movement. This article aims to serve as a practical manual on how to do a myoclonus study. For this purpose, the authors combine their experience with available evidence. The authors provide detailed descriptions of recording poly-electromyography, combining electroencephalography and electromyography, Bereitschaftspotentials, somatosensory evoked potentials, and startle techniques. The authors discuss analysis considerations for these data and provide a simplified algorithm for their interpretation. Finally, the authors discuss some factors that they believe have hindered the broader use of these useful techniques.
Subject(s)
Myoclonus , Humans , Myoclonus/diagnosis , Electroencephalography/methods , Electromyography/methods , Movement , Evoked Potentials, Somatosensory/physiologySubject(s)
COVID-19 , Cerebellar Ataxia , Myoclonus , Humans , Myoclonus/diagnosis , Myoclonus/etiology , Ataxia , SyndromeABSTRACT
Tetanus is a serious and rare disease in small animals, of an acute nature and mediated by the action of the neurotoxin tetanospasmin, from the bacillus Clostridium tetani. This report describes a case of tetanus in a canine, with emphasis on its clinical and therapeutic aspects, in addition to its clinical recovery. A canine, female, Pitbull breed, five months old, in status epilepticus, was attended at the Veterinary Hospital of the University of Passo Fundo. After stabilizing the patient, the animal was found in a trestle position, with generalized spastic paralysis, risus sardonicus, trismus, erect tail and ears, and difficulty in expanding the thorax. The presumptive diagnosis of tetanus was established based on the anamnesis, clinical signs, and laboratory findings. The established supportive treatment included hydro electrolytic replacement, antitetanus serum, antibiotic therapy, analgesia, myorelaxant and anticonvulsant drugs. The patient's intensive management was carried out with urethral and gastroesophageal probing, changes of position every two hours, and reduction of environmental stimuli. Physiotherapy and acupuncture were also used to complement the treatment and accelerate recovery. The patient was discharged one month after the beginning of the treatment, presenting satisfactory evolution. In the present case, the clinical examination in association with the characteristic clinical signs of the disease, added to the detailed anamnesis, was essential for the presumptive diagnosis of tetanus. In addition, intensive management, drug treatment, physiotherapy, and acupuncture enabled the evolution of the clinical condition to cure.
O tétano é uma doença grave e rara em pequenos animais, de caráter agudo e mediada pela ação da neurotoxina tetanospasmina, proveniente do bacilo Clostridium tetani. Neste relato descreve-se um caso de tétano em um canino, com ênfase em seus aspectos clínicos e terapêuticos, além da sua recuperação clínica. Foi atendido no Hospital Veterinário da Universidade de Passo Fundo, um canino, fêmea, da raça Pitbull, com cinco meses, em status epilepticus. Após a estabilização da paciente, constataram-se animal em posição de cavalete, com paralisia espástica generalizada, risus sardonicus, trismo, cauda e orelhas eretas e dificuldade em expandir o tórax. O diagnóstico presuntivo de tétano foi firmado a partir da anamnese, sinais clínicos e achados laboratoriais. O tratamento suporte estabelecido incluiu reposição hidroeletrolítica, soro antitetânico, antibioticoterapia, analgesia, fármacos miorrelaxantes e anticonvulsivantes. O manejo intensivo da paciente foi realizado com sondagem uretral e nasoesofágica, trocas de decúbito a cada duas horas e diminuição de estímulos ambientais. A fisioterapia e a acupuntura também foram utilizadas para complementar o tratamento e acelerar a recuperação. A paciente recebeu alta médica um mês após o início do tratamento, apresentando evolução satisfatória. No presente caso, o exame clínico em associação aos sinais clínicos característicos da doença, acrescidos da anamnese minuciosa foram fundamentais ao diagnóstico presuntivo de tétano. Além disso, o manejo intensivo, o tratamento medicamentoso, assim como a realização de fisioterapia e acupuntura, possibilitaram a evolução do quadro clínico à cura.
Subject(s)
Animals , Female , Dogs , Status Epilepticus/veterinary , Tetanus/physiopathology , Tetanus/veterinary , Myoclonus/veterinary , Clostridium tetani/isolation & purificationABSTRACT
BACKGROUND: Though hemodynamically stable, etomidate is known for its myoclonus side effect following induction. The main aim of this study is an effective attempt to decrease the incidence of myoclonus with a priming agent. METHODS: A prospective, double-blind study was carried out on 50 adults posted for elective surgery. After premedication, priming was done with etomidate 0.03â¯mg.kg-1 (Group E) and propofol 0.2â¯mg.kg-1 (Group P), i.e., 1/10th of induction dose. After 60 seconds of priming, patients were induced with etomidate by titrating dose over 60 seconds until loss of verbal command and eyelash reflex. The grading of myoclonus, induction dosage, and hemodynamics for 10â¯minutes post induction were recorded. RESULTS: In the study, only 4 cases had myoclonus. Grade 1 myoclonus was encountered in three cases of etomidate group, while only one case in the propofol group had grade 2 myoclonus which was not statistically significant (p-value: 0.12). There was a significant reduction in the etomidate induction dosage in both groups. CONCLUSION: Priming with etomidate and propofol is equally effective in reducing myoclonus with the added benefit of hemodynamic stability and reduction of an induction dose of etomidate (> 50%).
Subject(s)
Etomidate , Myoclonus , Propofol , Adult , Anesthetics, Intravenous , Double-Blind Method , Etomidate/adverse effects , Humans , Incidence , Myoclonus/chemically induced , Myoclonus/prevention & control , Propofol/pharmacology , Prospective StudiesABSTRACT
Background: Movement disorders are an infrequent presentation to stroke, and in this context, negative myoclonus is not among the most common movement disorders, hence we present a case of negative myoclonus secondary to thalamic stroke. Case: A 75 year old male presented with left central facial palsy and negative myoclonus on his left upper limb. He was submitted to a diagnostic workup, with evidence of a right thalamic stroke. He was started on Phenobarbital 50 mg and the movement disorder resolved. Conclusion: Given the relevance of cerebrovascular disease as a cause of morbidity and mortality, it is important to the clinician to be aware of the less typical presentations such as the observed in our case, in order to provide adequate care to the patient.
Subject(s)
Movement Disorders , Myoclonus , Stroke , Aged , Arm , Cerebral Infarction/complications , Cerebral Infarction/diagnostic imaging , Humans , Male , Myoclonus/complications , Myoclonus/drug therapy , Stroke/complications , Stroke/diagnostic imagingABSTRACT
La mioclonía palatina esencial es una entidad otoneurológi-ca rara. Se caracteriza por movimientos involuntarios de los músculos del paladar blando que causan un tinnitus objetivo.La mioclonía del paladar se clasifica en dos tipos: secundaria y primaria (mioclonía palatina esencial); esta última es más frecuente en pediatría. La tomografía computada y la reso-nancia magnética de cerebro normal orientan al diagnóstico. La mioclonía palatina esencial, generalmente, se resuelve en forma espontánea.Se presenta a una paciente de 8 años de edad con un "clic" rápido en forma rítmica en su boca que cedía en forma espontánea
Essential palatal myoclonus is a rare neurological disorder characterized by involuntary movements of the soft palate musculature causing objective-clicking tinnitus. The palatal myoclonus is classified in two forms, secondary and essential palatal myoclonus. Primary (essential) palatal myoclonus is the most common type in childhood. Normal computed tomography and magnetic resonance guide the diagnosis. Spontaneous resolution usually occurs in the essential type of palatal myoclonus.In this report, we present an 8-year-old child making rhythmic, rapid clicking noises from her throat with spontaneous resolution.
Subject(s)
Humans , Female , Child , Myoclonus/diagnosis , Pediatrics , Tinnitus , Myoclonus/therapyABSTRACT
Essential palatal myoclonus is a rare neurological disorder characterized by involuntary movements of the soft palate musculature causing objective-clicking tinnitus. The palatal myoclonus is classified in two forms, secondary and essential palatal myoclonus. Primary (essential) palatal myoclonus is the most common type in childhood. Normal computed tomography and magnetic resonance guide the diagnosis. Spontaneous resolution usually occurs in the essential type of palatal myoclonus. In this report, we present an 8-year-old child making rhythmic, rapid clicking noises from her throat with spontaneous resolution.
La mioclonía palatina esencial es una entidad otoneurológica rara. Se caracteriza por movimientos involuntarios de los músculos del paladar blando que causan un tinnitus objetivo. La mioclonía del paladar se clasifica en dos tipos: secundaria y primaria (mioclonía palatina esencial); esta última es más frecuente en pediatría. La tomografía computada y la resonancia magnética de cerebro normal orientan al diagnóstico. La mioclonía palatina esencial, generalmente, se resuelve en forma espontánea. Se presenta a una paciente de 8 años de edad con un "clic" rápido en forma rítmica en su boca que cedía en forma espontánea.
Subject(s)
Myoclonus , Tinnitus , Child , Female , Humans , Myoclonus/diagnosis , Palate, SoftABSTRACT
BACKGROUND: Neurophysiological studies are ancillary tools to better understand the features and nature of movement disorders. Electromyography (EMG), together with electroencephalography (EEG) and accelerometer, can be used to evaluate a hypo and hyperkinetic spectrum of movements. Specific techniques can be applied to better characterize the phenomenology, help distinguish functional from organic origin and assess the most probable site of the movement generator in the nervous system. OBJECTIVE: We intend to provide an update for clinicians on helpful neurophysiological tools to assess movement disorders in clinical practice. METHODS: Non-systematic review of the literature published up to June 2019. RESULTS: A diversity of protocols was found and described. These include EMG analyses to define dystonia, myoclonus, myokymia, myorhythmia, and painful legs moving toes pattern; EMG in combination with accelerometer to study tremor; and EEG-EMG to study myoclonus. Also, indirect measures of cortical and brainstem excitability help to describe and diagnose abnormal physiology in Parkinson's disease, atypical parkinsonism, dystonia, and myoclonus. CONCLUSION: These studies can be helpful for the diagnosis and are usually underutilized in neurological practice.
Subject(s)
Dystonia , Movement Disorders , Myoclonus , Electroencephalography , Electromyography , Humans , Movement Disorders/diagnosis , Myoclonus/diagnosis , Neurophysiology , Tremor/diagnosisABSTRACT
ABSTRACT Background: Neurophysiological studies are ancillary tools to better understand the features and nature of movement disorders. Electromyography (EMG), together with electroencephalography (EEG) and accelerometer, can be used to evaluate a hypo and hyperkinetic spectrum of movements. Specific techniques can be applied to better characterize the phenomenology, help distinguish functional from organic origin and assess the most probable site of the movement generator in the nervous system. Objective: We intend to provide an update for clinicians on helpful neurophysiological tools to assess movement disorders in clinical practice. Methods: Non-systematic review of the literature published up to June 2019. Results: A diversity of protocols was found and described. These include EMG analyses to define dystonia, myoclonus, myokymia, myorhythmia, and painful legs moving toes pattern; EMG in combination with accelerometer to study tremor; and EEG-EMG to study myoclonus. Also, indirect measures of cortical and brainstem excitability help to describe and diagnose abnormal physiology in Parkinson's disease, atypical parkinsonism, dystonia, and myoclonus. Conclusion: These studies can be helpful for the diagnosis and are usually underutilized in neurological practice.
RESUMO Introdução: Os estudos neurofisiológicos são métodos auxiliares para compreender melhor as características e a natureza dos distúrbios do movimento. A eletromiografia (EMG), em associação com o eletroencefalograma (EEG) e o acelerômetro, podem ser utilizados para avaliar um espectro de movimentos hipo e hipercinéticos. Técnicas específicas podem ser aplicadas para melhor caracterizar a fenomenologia, ajudar a distinguir a origem psicogênica da orgânica e avaliar o local mais provável de geração do movimento no sistema nervoso. Objetivo: Pretendemos fornecer ao clínico uma atualização sobre ferramentas neurofisiológicas úteis para avaliar distúrbios do movimento na prática clínica. Métodos: Revisão não sistemática da literatura publicada até junho de 2019. Resultados: Uma diversidade de protocolos foi encontrada e descrita. Dentre eles, inclui-se o uso de EMG para a definição do padrão de distonia, mioclonia, mioquimia, miorritmia e painfull legs moving toes, além do uso de EMG em associação ao acelerômetro para avaliar tremor e, em associação ao EEG para avaliar mioclonia. Ademais, técnicas para medida indireta de excitabilidade cortical e do tronco encefálico ajudam a descrever e diagnosticar a fisiologia anormal da doença de Parkinson, parkinsonismo atípico, distonia e mioclonia. Conclusão: Esses estudos podem ser úteis para o diagnóstico e geralmente são subutilizados na prática neurológica.
Subject(s)
Humans , Dystonia , Movement Disorders/diagnosis , Myoclonus/diagnosis , Tremor/diagnosis , Electroencephalography , Electromyography , NeurophysiologyABSTRACT
BACKGROUND: Topiramate (TPM) is a fructose derivative, which was originally developed as an antiepileptic. In this context, movement disorders (MDs) are possible adverse events secondary to TPM. CASE REPORTS: Two patients (cases 1 and 2) developed myoclonus, and the other 2 had restless leg syndrome (RLS, cases 3 and 4). The mean age of the individuals (3 female patients) was 45.75 ± 21.28 years. All the individuals had a negative family history for movement and psychiatry disorders. Topiramate was started at 25 mg with a gradual increase of 25 mg every week. The mean time of onset and recovery of the MD were 1.37 ± 1.10 and 1.02 ± 0.77 months, respectively. The mean TPM dose was 87.5 ± 47.87 mg. Individual 1 presented with upper and lower limb jerks; individual 2 only with upper limb involvement. Individuals 3 and 4 experienced insomnia and nocturnal leg discomfort during inactivity with an urge to move the legs, which they denied having previously; the RLS symptoms occurred within approximately 1 to 3 hours of TPM evening dose. On neurological examination, no tremor or bradykinesia was observed; deep tendon reflexes, sensory examination, and strength were normal and preserved. Laboratory tests, neuroimaging, and electromyography were within normal. Topiramate was discontinued in all of the subjects. Full recovery was obtained in all cases. CONCLUSIONS: To the authors' knowledge, there are 6 cases of myoclonus, 5 RLS, 2 dystonia, 1 dyskinesia, and 1 periodic limb MD. The best management is probably the discontinuation of TPM, but in RLS patients, the addition of a dopaminergic agonist can be beneficial.
Subject(s)
Myoclonus/chemically induced , Myoclonus/diagnosis , Topiramate/adverse effects , Adult , Aged , Anticonvulsants/adverse effects , Female , Humans , Male , Middle Aged , Movement Disorders/diagnosis , Myoclonus/physiopathology , Restless Legs Syndrome/chemically induced , Restless Legs Syndrome/diagnosisABSTRACT
O perfil epizootiológico da cinomose canina em Belo Horizonte é desatualizado e não alberga algumas características relevantes. Uma análise recente da distribuição do vírus em relação às características do hospedeiro e do meio ambiente associada aos principais sinais clínicos e achados laboratoriais são importantes para se adotarem medidas estratégicas para o controle da enfermidade. Objetivou-se, assim, determinar as características epizootiológicas da infecção pelo vírus da cinomose canina associada à variedade de sinais clínico-neurológicos e laboratoriais em Belo Horizonte, auxiliando no diagnóstico precoce da infecção e na diminuição das taxas de morbidade e mortalidade da doença. A avaliação do perfil epizootiológico de 90 cães revelou que a doença é mais frequente em animais adultos (um a seis anos de idade) e que não receberam vacinas conforme recomendado pelos protocolos. Os sinais clínicos extraneurais e neurais foram variados, com predomínio para manifestações gastrentérica e respiratória, mioclonia e déficit motor, respectivamente. O exame do fluido cérebro-espinhal demonstrou predomínio de proteinorraquia associada à pleocitose linfocítica. O teste de imunocromatografia para pesquisa de antígeno com amostras do fluido cerebroespinhal foi eficaz para identificar a doença em pacientes com sinais neurológicos, diferentemente das amostras do swab conjuntival, que não devem ser utilizadas.(AU)
The epizootiology profile of canine distemper in Belo Horizonte is outdated and does not harbor some important characteristics. A recent analysis of the virus distribution in relation to host and environmental characteristics associated with the main clinical signs and laboratory findings are important for adopting strategic measures to control the disease. The aim of this study was to determine the epizootiology characteristics of canine distemper virus infection associated with a variety of clinical and neurologic signs and laboratory findings in Belo Horizonte, helping to detect early infection and reduce morbidity and mortality rates. The evaluation of the epizootiology profile of 90 dogs revealed that the disease is more frequent in adult animals (1-6 years of age) and did not receive vaccines as recommended by the protocols. Extra neural and neural clinical signs were varied, with predominance for gastrointestinal and respiratory manifestations and myoclonus and motor deficit, respectively. Examination of the cerebrospinal fluid of 16 dogs showed a predominance of increase protein associated with lymphocytic pleocytosis. The immunochromatography test for antigen screening with samples of cerebrospinal fluid in 76 animals with neurological signs was effective in identifying the disease, unlike conjunctival swab samples, which should not be used.(AU)
Subject(s)
Animals , Dogs , Distemper/epidemiology , Distemper Virus, Canine/isolation & purification , Myoclonus/veterinary , Neurologic Manifestations , Chromatography, Affinity/veterinary , Motor Skills Disorders/virology , Lymphocytosis/veterinaryABSTRACT
O perfil epizootiológico da cinomose canina em Belo Horizonte é desatualizado e não alberga algumas características relevantes. Uma análise recente da distribuição do vírus em relação às características do hospedeiro e do meio ambiente associada aos principais sinais clínicos e achados laboratoriais são importantes para se adotarem medidas estratégicas para o controle da enfermidade. Objetivou-se, assim, determinar as características epizootiológicas da infecção pelo vírus da cinomose canina associada à variedade de sinais clínico-neurológicos e laboratoriais em Belo Horizonte, auxiliando no diagnóstico precoce da infecção e na diminuição das taxas de morbidade e mortalidade da doença. A avaliação do perfil epizootiológico de 90 cães revelou que a doença é mais frequente em animais adultos (um a seis anos de idade) e que não receberam vacinas conforme recomendado pelos protocolos. Os sinais clínicos extraneurais e neurais foram variados, com predomínio para manifestações gastrentérica e respiratória, mioclonia e déficit motor, respectivamente. O exame do fluido cérebro-espinhal demonstrou predomínio de proteinorraquia associada à pleocitose linfocítica. O teste de imunocromatografia para pesquisa de antígeno com amostras do fluido cerebroespinhal foi eficaz para identificar a doença em pacientes com sinais neurológicos, diferentemente das amostras do swab conjuntival, que não devem ser utilizadas.(AU)
The epizootiology profile of canine distemper in Belo Horizonte is outdated and does not harbor some important characteristics. A recent analysis of the virus distribution in relation to host and environmental characteristics associated with the main clinical signs and laboratory findings are important for adopting strategic measures to control the disease. The aim of this study was to determine the epizootiology characteristics of canine distemper virus infection associated with a variety of clinical and neurologic signs and laboratory findings in Belo Horizonte, helping to detect early infection and reduce morbidity and mortality rates. The evaluation of the epizootiology profile of 90 dogs revealed that the disease is more frequent in adult animals (1-6 years of age) and did not receive vaccines as recommended by the protocols. Extra neural and neural clinical signs were varied, with predominance for gastrointestinal and respiratory manifestations and myoclonus and motor deficit, respectively. Examination of the cerebrospinal fluid of 16 dogs showed a predominance of increase protein associated with lymphocytic pleocytosis. The immunochromatography test for antigen screening with samples of cerebrospinal fluid in 76 animals with neurological signs was effective in identifying the disease, unlike conjunctival swab samples, which should not be used.(AU)
Subject(s)
Animals , Dogs , Distemper/epidemiology , Distemper Virus, Canine/isolation & purification , Myoclonus/veterinary , Neurologic Manifestations , Chromatography, Affinity/veterinary , Motor Skills Disorders/virology , Lymphocytosis/veterinaryABSTRACT
Resumen: La enfermedad de Creutzfeldt-Jakob (ECJ) es una patología neurodegenerativa transmisible, producida por una proteína anómala infectante denominada prion. Junto con el kuru, el insomnio familiar fatal y el síndrome de Gerstmann-Stráussler-Scheinker, configura el grupo de las llamadas encefalopatías espongiformes. La ECJ es la forma más común en el ser humano: se calcula que afecta a una persona por cada millón, a nivel mundial, y la mayoría de los pacientes presenta síntomas clásicos de demencia y mioclonías, asociadas a cambios específicos en el electroencefalograma (EEG). Conforme la enfermedad progresa, el cuadro demencial empeora y pueden presentarse síntomas visuales, cerebelosos, piramidales y extrapiramidales. El diagnóstico definitivo se logra demostrando la degeneración espongiforme de las neuronas en histopatología. La ECJ siempre es mortal y no tiene tratamiento específico: cerca del 90% de los pacientes fallece dentro del primer año después del diagnóstico. En este artículo, se reporta el caso de un paciente con ECJ esporádica probable, de acuerdo con los criterios diagnósticos actuales de la OMS y se da a conocer una revisión de la literatura.
Abstract: Creutzfeldt-Jakob disease (CJD) is a transmissible neurodegenerative pathology produced by an infecting abnormal protein called prion. Together with kuru, fatal familial insomnia, and Gerstmann-Stráussler-Scheinker syndrome, it forms the group of so-called spongiform encephalopathies. CJD is the most common form in humans: it is estimated to affect one person per million worldwide and most patients have classic symptoms of dementia and myoclonus, associated with specific changes in the electroencephalogram (EEG). As the disease progresses, the dementia condition worsens and visual, cerebellar, pyramidal, and extrapyramidal symptoms may develop. The final diagnosis is achieved by proving the spongiform degeneration of neurons in the histopathology. CJD is always fatal and has no specific treatment: about 90 % of patients die within the first year of diagnosis. This article reports the case of a patient with probable sporadic CJD, following current who diagnostic criteria, and provides a literature review.
Resumo: A doença de Creutzfeldt-Jakob (DCJ) é uma doença patologia neurodegenerativa transmissível, produzida por uma proteína anormal infectante denominada prion. Juntamente com o kuru, a Insónia familiar fatal e a síndrome de Gerstmann-Stráussler-Scheinker, forma o grupo das chamadas encefalopatias espongiformes. A DCJ é a forma mais comum em humanos: estima-se que ela afete uma em cada um milhão de pessoas em todo o mundo, e a maioria dos pacientes apresenta sintomas clássicos de demência e mioclonia, associados a alterações específicas no eletroencefalograma (EEG). À medida que a doença progride, o quadro de demência piora e podem surgir sintomas visuais, ce-rebelares, piramidais e extrapiramidais. O diagnóstico definitivo é obtido por meio da demonstração da degeneração espongiforme dos neurónios na histopatologia. A dcj é sempre fatal e não possui tratamento específico: cerca de 90% dos pacientes morrem no primeiro ano após o diagnóstico. Neste artigo, é relatado o caso de um paciente com dcj esporádica provável, de acordo com os atuais critérios de diagnóstico da oms, e é apresentada uma revisão da literatura.