ABSTRACT
We have reported a case series of five patients with jaw-opening oromandibular dystonia secondary to Wilson's disease (WD), in which the patients were treated with botulinum toxin type A (BTX-A). In all cases, dystonia score was partially reduced three weeks after injections. The most common side effect was transient mild dysphagia. This preliminary study showed that jaw-opening oromandibular dystonia in WD may be partially responsive to the use of BTX-A.
Relata-se uma série de cinco casos de distonia oromandibular com abertura da boca, secundária à doença de Wilson, em que os pacientes foram tratados com toxina botulínica tipo A. Em todos os casos, a distonia oromandibular com abertura da boca foi parcialmente reduzida três semanas após as injeções. O efeito adverso mais comum foi a disfagia leve e transitória. Este estudo preliminar mostrou melhora parcial da distonia oromandibular com abertura da boca.
Subject(s)
Adult , Female , Humans , Botulinum Toxins, Type A/therapeutic use , Dystonia/drug therapy , Hepatolenticular Degeneration/complications , Mandibular Diseases/drug therapy , Neuromuscular Agents/therapeutic use , Dystonia/etiology , Injections, Intramuscular , Mandibular Diseases/etiology , Treatment OutcomeABSTRACT
OBJECTIVE: Spinocerebellar ataxias are neurodegenerative disorders involving the cerebellum and its connections. There are more than 30 distinct subtypes, 16 of which are associated with an identified gene. The aim of the current study was to evaluate a large group of patients from 104 Brazilian families with spinocerebellar ataxias. METHODS: We studied 150 patients from 104 families with spinocerebellar ataxias who had received molecular genetic testing for spinocerebellar ataxia types 1, 2, 3, 6, 7, 8, 10, 12, 17, and dentatorubral-pallidoluysian atrophy. A statistical analysis of the results was performed using basic descriptive statistics and the correlation coefficient (r), Student's t-test, chi-square test, and Yates' correction. The statistical significance level was established for p-values <0.05. RESULTS: The results show that the most common subtype was spinocerebellar ataxia 3, which was followed by spinocerebellar ataxia 10. Moreover, the comparison between patients with spinocerebellar ataxia 3, spinocerebellar ataxia 10, and other types of spinocerebellar ataxia revealed distinct clinical features for each type. In patients with spinocerebellar ataxia 3, the phenotype was highly pleomorphic, although the most common signs of disease included cerebellar ataxia (CA), ophthalmoplegia, diplopia, eyelid retraction, facial fasciculation, pyramidal signs, and peripheral neuropathy. In patients with spinocerebellar ataxia 10, the phenotype was also rather distinct and consisted of pure cerebellar ataxia and abnormal saccadic eye movement as well as ocular dysmetria. Patients with spinocerebellar ataxias 2 and 7 presented highly suggestive features of cerebellar ataxia, including slow saccadic ocular movements and areflexia in spinocerebellar ataxia 2 and visual loss in spinocerebellar ataxia 7. CONCLUSIONS: Spinocerebellar ataxia 3 was the most common subtype examined, followed by spinocerebellar ataxia 10. Patients with spinocerebellar ataxia 2 and 7 demonstrated highly suggestive features, whereas the phenotype of spinocerebellar ataxia 3 patients was highly pleomorphic and spinocerebellar ataxia 10 patients exhibited pure cerebellar ataxia. Epilepsy was absent in all of the patients with spinocerebellar ataxia 10 in this series.
Subject(s)
Female , Humans , Genetic Association Studies , Machado-Joseph Disease/diagnosis , Spinocerebellar Ataxias/diagnosis , Age of Onset , Brazil , DNA Repeat Expansion/genetics , Molecular Diagnostic Techniques , Machado-Joseph Disease/genetics , Spinocerebellar Ataxias/geneticsABSTRACT
Neurological diseases are prevalent in the emergency room (ER). The aim of this study was to compare the neurological diagnoses between younger and older patients evaluated in the ER of a tertiary care hospital. METHOD: Patients admitted to the ER who required neurological evaluation in the first 24 hours were separated into two groups based on age, <;50 years old and >50 years old. RESULTS: Cerebrovascular disease (59.6 percent vs. 21.8 percent, p<0.01) was most frequent in the >50 years old group. Seizures (8.1 percent vs. 18.6 percent, p<0.01) and primary headache (3.7 percent vs. 11.4 percent, p<0.01) were most frequent in the <;50 years old group. CONCLUSION: The current study demonstrated that these three neurological diagnoses represented the majority of the neurological evaluations in the ER. National guidelines for ER teams that treat these prevalent disorders must be included in clinical practice and training.
Doenças neurológicas são prevalentes na sala de emergência (SE). O objetivo deste estudo é comparar a ocorrência de diagnósticos neurológicos entre pacientes jovens e idosos atendidos na SE de um hospital terciário. MÉTODO: Pacientes admitidos na SE que necessitaram avaliação neurológica nas primeiras 24 horas após a admissão foram separados em dois grupos baseados na idade, <;50 anos de idade e >50 anos de idade. RESULTADOS: Doença cerebrovascular foi o diagnóstico mais comum nos pacientes >50 anos (59,6 por cento vs. 21,8 por cento, p<0,01). Convulsões (8,1 por cento vs. 18,6 por cento, p<0,01) e cefaléias primárias (3,7 por cento vs. 114 por cento, p<0,01) foram mais frequentes no grupo <;50 anos. CONCLUSÃO: O presente estudo demonstrou que esses três diagnósticos neurológicos representam a maioria das avaliações neurológicas na SE. Diretrizes nacionais para os profissionais emergencistas que tratam estas doenças devem ser incluídos na prática clínica e no treinamento médico.
Subject(s)
Adult , Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Emergency Service, Hospital/statistics & numerical data , Nervous System Diseases/diagnosis , Age Factors , Retrospective StudiesABSTRACT
Lambert-Eaton myasthenic syndrome (LEMS) is an immune-mediated disorder of the presynaptic neuromuscular transmission, which more frequently occurs as the remote effect of a neoplasm, in the paraneoplastic form (P-LEMS), or in a non-paraneoplastic form (NP-LEMS); but few studies describe the clinical features of NP-LEMS. We analyzed the clinical manifestations, laboratory findings, electrophysiological studies, and treatment responses in ten Brazilian patients suffering from NP-LEMS. The mean age was 41.5 years. More often neurological findings were hyporeflexia or areflexia with a post-exercise improvement. Treatment response occurred with pyridostigmine, guanidine, prednisone, azathioprine, and cyclosporine; but not response was observed after intravenous immunoglobulin and plasma exchange. Age at onset, clinical manifestations, and electrophysiological abnormalities can help more in the diagnosis than serum antibodies; the symptomatic treatment with pyridostigmine was effective; and the immunosuppressive treatment with prednisone, azathioprine, or cyclosporine was more beneficial than plasma exchange or intravenous immunoglobulin treatment.
A síndrome miastênica de Lambert-Eaton (LEMS) é uma desordem imunomediada da transmissão neuromuscular pré-sinaptica, que mais frequentemente ocorre como efeito à distância de uma neoplasia, na forma paraneoplásica (P-LEMS), ou na forma não paraneoplásica (NP-LEMS); porém poucos estudos têm descrito as características da NP-LEMS. Nós analisamos as manifestações clínicas, laboratoriais, eletrofisiológicas, e resposta ao tratamento em dez pacientes brasileiros com NP-LEMS. A idade média foi de 41,5 anos. A manifestação neurológica mais freqüente foi hiporeflexia ou arreflexia com melhora após o exercício. A resposta ao tratamento ocorreu com piridostigmina, guanidina, prednisona, azatioprina, e ciclosporina; mas não com imunoglobulina intravenosa e plasmaférese. A idade de início, manifestações clínicas e eletrofisiológicas ajudaram mais no diagnóstico do que os anticorpos séricos; o tratamento sintomático com piridostigmina foi efetivo; e o tratamento imunossupressor com prednisona, azatioprina, ou ciclosporina beneficiou mais do que a plasmaférese ou a imunoglobulina intravenosa.
Subject(s)
Adult , Female , Humans , Male , Middle Aged , Lambert-Eaton Myasthenic Syndrome , Electrophysiology , Immunoglobulins, Intravenous/therapeutic use , Immunosuppressive Agents/therapeutic use , Lambert-Eaton Myasthenic Syndrome/diagnosis , Lambert-Eaton Myasthenic Syndrome/physiopathology , Lambert-Eaton Myasthenic Syndrome/therapy , Plasmapheresis , Retrospective StudiesABSTRACT
OBJECTIVE: The aim of the study was to analyze a series of Brazilian patients suffering from MELAS. METHOD: Ten patients with MELAS were studied with correlation between clinical findings, laboratorial data, electrophysiology, histochemical and molecular features. RESULTS: Blood lactate was increased in eight patients. Brain image studies revealed a stroke-like pattern in all patients. Muscle biopsy showed ralled-red fibers (RRF) in 90 percent of patients on modified Gomori-trichrome and in 100 percent on succinate dehydrogenase stains. Cytochrome c oxidase stain analysis indicated deficient activity in one patient and subsarcolemmal accumulation in seven patients. Strongly succinate dehydrogenase-reactive blood vessels (SSV) occurred in six patients. The molecular analysis of tRNA Leu(UUR) gene by PCR/RLFP and direct sequencing showed the A3243G mutation on mtDNA in 4 patients. CONCLUSION: The muscle biopsy often confirmed the MELAS diagnosis by presence of RRF and SSV. Molecular analysis of tRNA Leu(UUR) gene should not be the only diagnostic criteria for MELAS.
OBJETIVO: O objetivo deste estudo foi analisar uma série de pacientes brasileiros portadores de MELAS. MÉTODO: Dez pacientes com MELAS foram estudados com correlação entre manifestações clínicas, alterações laboratoriais, estudo eletrofisiológico, histoquímico e molecular. RESULTADOS: O nível de lactato sérico estava aumentado em 8 pacientes. O estudo das imagens do crânio revelou padrão semelhante ao de AVC isquêmico em todos os pacientes. A biópsia muscular mostrou fibras rajadas vermelhas (RRF) em 90 por cento dos pacientes na coloração pelo tricrômio de Gomori modificado e em 100 por cento na reação histoquímica pela desidrogenase succicínica (SDH). A análise da coloração pela citocromo c oxidase indicou atividade deficiente em um paciente e acúmulo subsarcolemal em sete pacientes. Vasos com forte reação para SDH (SSV) ocorreram em seis pacientes. O estudo molecular do gene tRNA Leu(UUR) por PCR/RLFP e seqüenciamento direto mostrou a mutação A3243G no DNAmt de 4 pacientes. CONCLUSÃO: A biópsia muscular frequentemente confirma o diagnóstico de MELAS pela presença de RRF e SSV. O estudo molecular do gene tRNA Leu(UUR) não deve ser o único critério diagnóstico para MELAS.
Subject(s)
Adolescent , Adult , Child , Child, Preschool , Female , Humans , Male , Young Adult , MELAS Syndrome , Biopsy , Creatine Kinase/blood , DNA, Mitochondrial/genetics , Fructose-Bisphosphate Aldolase/blood , Lactates/blood , Lactates/cerebrospinal fluid , Magnetic Resonance Imaging , MELAS Syndrome/diagnosis , MELAS Syndrome/genetics , MELAS Syndrome/pathology , Muscle, Skeletal/pathology , Mutation/genetics , Polymerase Chain Reaction , Polymorphism, Restriction Fragment Length , Retrospective Studies , Tomography, X-Ray Computed , Young AdultABSTRACT
Dopa-responsive dystonia (DRD) is an inherited metabolic disorder now classified as DYT5 with two different biochemical defects: autosomal dominant GTP cyclohydrolase 1 (GCH1) deficiency or autosomal recessive tyrosine hydroxylase deficiency. We report the case of a 10-years-old girl with progressive generalized dystonia and gait disorder who presented dramatic response to levodopa. The phenylalanine to tyrosine ratio was significantly higher after phenylalanine loading test. This condition had two different heterozygous mutations in the GCH1 gene: the previously reported P23L mutation and a new Q182E mutation. The characteristics of the DRD and the molecular genetic findings are discussed.
Distonia dopa-responsiva (DRD), classificada como DYT5, é um erro inato do metabolismo que pode ser causado por dois diferentes tipos de defeito bioquímico: deficiência de GTP ciclo-hidrolase 1 (GCH1) (autossômica dominante) ou de tirosina hidroxilase (autossômica recessiva). Descrevemos o caso de menina de 10 anos com distonia generalizada progressiva e alteração da marcha com importante melhora após uso de levodopa. A relação fenilalanina/tirosina estava aumentada após teste de sobrecarga com fenilalanina. O estudo molecular mostrou que o paciente apresenta uma combinação hererozigótica de mutação no gene GCH1: a já conhecida mutação P23L e uma nova mutação Q182E. Discutem-se as características da DRD e as alterações genéticas possíveis.
Subject(s)
Child , Female , Humans , Dopamine Agents/therapeutic use , Dystonia/drug therapy , Dystonia/genetics , GTP Cyclohydrolase/genetics , Levodopa/therapeutic use , Mutation, Missense/genetics , Dystonia/blood , Heterozygote , Phenylalanine/blood , Tyrosine/bloodABSTRACT
The chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is an unusual but important complication of hematopoietic stem cell transplantation (HSCT) rarely reported to date. We describe a 17-year-old woman with a diagnosis of acute myeloid leukemia due to Fanconi's anemia who was submitted to allogeneic HSCT and developed CIDP as part of graft-versus-host disease. Investigation showed high cerebrospinal fluid protein; electrophysiological studies revealed sensory-motor demyelinating polyradiculoneuropathy; muscle and nerve biopsy were compatible with CIDP.
A polirradiculoneuropatia desmielinizante inflamatória crônica (CIDP) é uma incomum, porém, importante complicação do transplante de células hematopoiéticas (HSCT) raramente relatada até a data. Nós descrevemos uma mulher de 17 anos com diagnóstico de leucemia mielóide aguda por anemia de Fanconi que foi submetida à HSCT e desenvolveu CIDP como parte da doença do enxerto contra o hospedeiro. A investigação mostrou elevação na proteína no líquor; estudo eletrofisiológico revelando polirradiculoneuropatia desmielinizante sensitivo-motora; e biópsia de músculo e nervo compatível com CIDP.
Subject(s)
Adolescent , Female , Humans , Graft vs Host Disease/etiology , Hematopoietic Stem Cell Transplantation/adverse effects , Polyradiculoneuropathy, Chronic Inflammatory Demyelinating/etiology , Biopsy , Bone Marrow Transplantation/adverse effects , Graft vs Host Disease/pathology , Leukemia, Myeloid, Acute/surgery , Motor Neurons/pathology , Polyradiculoneuropathy, Chronic Inflammatory Demyelinating/pathology , Spinal Nerves/pathologyABSTRACT
Patients with ParkinsonÆs disease (PD) in whom symptoms start before the age of 45 years (EOPD) present different clinical characteristics from those with the late-onset form of the disease. The incidence of depression is believed to be greater in patients with EOPD than with the late-onset form of the disease, although there is no risk factor or marker for depression in patients with PD. We studied 45 patients with EOPD to define the frequency of depression and to identify possible differences between the groups with and without depression. Depression was diagnosed in 16 (35.5 percent) of the patients, a higher incidence than in the population at large but similar to the figure for late-onset Parkinson disease; 8 (50 percent) of the patients had mild depression, 4 (25 percent) moderate depression and 4 (25 percent) were in remission. There was no relationship between depression and any of the clinical characteristics of the disease, although the EOPD patients with depression presented earlier levodopa-related complications and were more affected on the Hoehn-Yahr, UPDRS and Schwab-England scales.
Os pacientes com doença de Parkinson (DP) cujo início dos sintomas ocorre até os 45 anos (DPIP), apresentam características clínicas que a diferem da doença de início tardio. Estudos têm sugerido que pacientes com DPIP têm maior incidência de depressão quando comparados aos de início tardio, mas sem definição de algum marcador específico da doença para depressão. Estudamos 45 pacientes com DPIP, para definir a freqüência da depressão e verificar possíveis diferenças entre os grupos com e sem depressão. A depressão foi diagnosticada em 16 (35.5 por cento) pacientes estando acima da média da população geral, porém semelhante aos índices relatados pelos estudos de pacientes com DP de início tardio; 8 (50 por cento) pacientes tinham depressão leve, 4 (25 por cento) moderada e 4 (25 por cento) estavam em remissão.Não houve relação da depressão com nenhuma das características clínicas da doença, embora apresentem complicações mais precoces da levodopaterapia, e sejam mais afetados nas escalas de Hoehn-Yahr, UPDRS e Schwab-England.
Subject(s)
Adult , Aged , Female , Humans , Male , Middle Aged , Depression/psychology , Parkinson Disease/psychology , Age Factors , Antiparkinson Agents/adverse effects , Antiparkinson Agents/therapeutic use , Depression/diagnosis , Depression/epidemiology , Levodopa/adverse effects , Levodopa/therapeutic use , Prevalence , Psychiatric Status Rating Scales , Parkinson Disease/drug therapy , Risk FactorsABSTRACT
Menkes disease is a rare neurodegenerative disorder due to an intracellular defect of a copper transport protein. We describe a 7 months male patient who presented with seizures, hypoactivity and absence of visual contact. The investigation disclosed pilli torti and thrycorrexis nodosa in the hair, low serum levels of both copper and ceruloplasmin, brain magnetic resonance study showed atrophy and white matter hypointensities on T1-weighted images, electroencephalogram reveals moderate background activity disorganization and epileptiform activity, and muscle biopsy with type 2 fiber atrophy. The clinical, laboratorial, genetic, muscle biopsy and neurophysiological findings in MenkesÆ disease are discussed.
A doença de Menkes é uma rara desordem neurodegenerativa causada por defeito intracelular na proteína transportadora do cobre. Descrevemos um paciente de 7 meses, masculino, com crises convulsivas, hipoatividade e ausência de contato visual. A investigação demonstrou pilli torti e thrycorrexis nodosa; níveis séricos baixos de ceruloplasmina e cobre; RNM de crânio com atrofia e redução de sinal da substância branca (imagens em T1); eletroencefalograma com moderada desorganização da atividade de base e atividade irritativa; e biópsia muscular com atrofia de fibras do tipo 2. As características clínicas, laboratoriais, genéticas, biópsia muscular e estudo neurofisiológico na doença de Menkes são discutidas.
Subject(s)
Humans , Infant , Male , Ceruloplasmin/analysis , Copper/blood , Menkes Kinky Hair Syndrome/diagnosis , Electroencephalography , Electromyography , Magnetic Resonance Imaging , Menkes Kinky Hair Syndrome/bloodABSTRACT
The Dandy-Walker syndrome (DWS) is a rare posterior fossa malformation. The DWS can occur associated with other brain or systemic malformations, but ocular abnormalities in this disease are rare and clinical findings mimicking myasthenia gravis have not been described to date. We report a 23-year-old woman who presented mild limitation of the ocular movements with progressive palpebral ptosis, which changed in intensity during the day. The investigation showed negative anti-acetylcholine receptor antibody, repetitive nerve stimulation and "Tensilon test", but the brain magnetic resonance image reveals DWS with hydrocephalus associated with calosal dysgenesis. The characteristic of disease, clinical manifestations and pathologic features, specially the clinical evaluation of ocular abnormalities in suspicion of DWS, including the MG in differential diagnosis are discussed.
A síndrome de Dandy-Walker (DWS) é uma rara malformação da fossa posterior que pode ocorrer associada com outras malformações cerebrais ou sistêmicas. As alterações oculares são raras e as manifestações clínicas, simulando miastenia gravis (MG), não foram descritas até o momento. Descrevemos uma mulher de 23 anos apresentando discreta limitação da movimentação ocular com progressiva ptose palpebral que mudava de intensidade durante o dia. A investigação mostrou negativos o anticorpo anti-receptor de acetilcolina, a estimulação nervosa repetitiva e o "teste do Tensilon", porém a ressonância magnética de crânio revelou DWS com hidrocefalia associada à disgenesia de corpo caloso. As características da doença, manifestações clínicas e patológicas, especialmente a avaliação clínica de anormalidade ocular na suspeita de DWS serão discutidas, incluindo a MG no diagnóstico diferencial.
Subject(s)
Adult , Female , Humans , Dandy-Walker Syndrome/diagnosis , Myasthenia Gravis/diagnosis , Diagnosis, Differential , Magnetic Resonance ImagingABSTRACT
INTRODUCTION: Sleep disorders presenting involuntary movements may be very annoying to patients, apart from their negative influence on sleep. OBJECTIVE: To report the use of botulinum type-A toxin (BoNT-A) to manage the case of a patient whose sleep was severely disrupted by episodes of dystonic posturing of the right lower limb triggered by periodic limb movements of sleep (PLMS). METHOD: A 79-year-old woman with mild post-stroke right hemiparesis presented with recurrent painful episodes of dystonia of the right lower limb, which disrupted her sleep. The dystonic episodes could also be voluntarily triggered by extension of the right hallux. Polysomnography confirmed that the dystonic episodes were triggered by PLMS. Twenty units of BoNT-A (20U/500U vial) were injected into her right extensor hallucis longus. RESULTS: Shortly after BoNT-A was injected, the dystonic symptoms abated, and the patient achieved better sleep efficiency. CONCLUSION: The PLMS-related involuntary extension of the hallux was probably triggering the nocturnal post-stroke lower limb dystonic paroxysms. BoNT-A injection into the right extensor hallucis longus was effective in managing this condition and thus resolved the associated disruption of sleep.
INTRODUÇÃO: Desordens do sono apresentando movimentos involuntários podem ser bastante perturbadoras aos pacientes, além de sua influência negativa no sono. OBJETIVO: Descrever o uso da toxina botulínica tipo-A (BoNT-A) no manejo do caso de um paciente cujo sono estava gravemente fragmentado por episódios de distonia do membro inferior direito, desencadeados por movimentos periódicos do sono (MPS). MÉTODO: Uma paciente com 79 anos portadora de hemiparesia direita leve seqüelar a isquemia cerebral (AVCI) procurou-nos por episódios dolorosos recorrentes de distonia noturna de seu membro inferior direito, os quais fragmentavam seu sono. Os episódios de distonia também podiam ser desencadeados voluntariamente, por extensão do hálux direito. Uma polisonografia confirmou que os episódios distônicos eram desencadeados pelos MPS. Vinte unidades de BoNT-A (20 U/frasco de 500 U) foram injetadas no seu extensor longo do hálux. RESULTADOS: Alguns dias após a injeção de BoNT-A os sintomas distônicos regrediram, e o sono da paciente tornou-se eficiente. CONCLUSÃO: As extensões involuntárias do hálux relacionadas aos movimentos periódicos do sono estavam provavelmente desencadeando os paroxismos distônicos noturnos pós-AVCI. A injeção de BoNT-A no extensor longo do hálux foi eficaz no manejo desta condição, resolvedo assim a fragmentação do sono.