RESUMO
Objective To describe and compare the vestibular findings most evident among the hereditary ataxias, as well as correlate their clinical features with the nervous structures affected in this disease. Methods Seventy-five patients were evaluated and underwent a case history, otorhinolaryngological and vestibular assessments. Results Clinically, the patients commonly had symptoms of gait disturbances (67.1%), dizziness (47.3%), dysarthria (46%) and dysphagia (36.8%). In vestibular testing, alterations were predominantly evident in caloric testing (79%), testing for saccadic dysmetria (51%) and rotational chair testing (47%). The presence of alterations occurred in 87% of these patients. A majority of the alterations were from central vestibular dysfunction (69.3%). Conclusion This underscores the importance of the contribution of topodiagnostic labyrinthine evaluations for neurodegenerative diseases as, in most cases, the initial symptoms are otoneurological; and these evaluations should also be included in the selection of procedures to be performed in clinical and therapeutic monitoring.
Assuntos
Degenerações Espinocerebelares/diagnóstico , Degenerações Espinocerebelares/epidemiologia , Doenças Vestibulares/diagnóstico , Doenças Vestibulares/epidemiologia , Adolescente , Adulto , Idoso , Brasil/epidemiologia , Estudos Transversais , Transtornos de Deglutição/epidemiologia , Transtornos de Deglutição/fisiopatologia , Tontura/epidemiologia , Tontura/fisiopatologia , Disartria/epidemiologia , Disartria/fisiopatologia , Feminino , Transtornos Neurológicos da Marcha/epidemiologia , Transtornos Neurológicos da Marcha/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Nistagmo Patológico/epidemiologia , Nistagmo Patológico/fisiopatologia , Reação em Cadeia da Polimerase , Prevalência , Estudos Retrospectivos , Distribuição por Sexo , Degenerações Espinocerebelares/genética , Degenerações Espinocerebelares/fisiopatologia , Doenças Vestibulares/genética , Doenças Vestibulares/fisiopatologia , Testes de Função Vestibular/métodos , Adulto JovemRESUMO
ABSTRACT Objective To describe and compare the vestibular findings most evident among the hereditary ataxias, as well as correlate their clinical features with the nervous structures affected in this disease. Methods Seventy-five patients were evaluated and underwent a case history, otorhinolaryngological and vestibular assessments. Results Clinically, the patients commonly had symptoms of gait disturbances (67.1%), dizziness (47.3%), dysarthria (46%) and dysphagia (36.8%). In vestibular testing, alterations were predominantly evident in caloric testing (79%), testing for saccadic dysmetria (51%) and rotational chair testing (47%). The presence of alterations occurred in 87% of these patients. A majority of the alterations were from central vestibular dysfunction (69.3%). Conclusion This underscores the importance of the contribution of topodiagnostic labyrinthine evaluations for neurodegenerative diseases as, in most cases, the initial symptoms are otoneurological; and these evaluations should also be included in the selection of procedures to be performed in clinical and therapeutic monitoring.
RESUMO Objetivo Descrever e comparar os achados vestibulares mais evidentes entre a ataxia hereditária, bem como correlacionar seus aspectos clínicos com o estudo das estruturas nervosas afetadas nesta doença. Métodos 75 pacientes foram avaliados e submetidos aos seguintes procedimentos: anamnese, avaliação otorrinolaringológica e vestibular. Resultados Clinicamente, os pacientes apresentaram sintomas de distúrbios da marcha (67,1%), tonturas (47,3%), disartria (46%) e disfagia (36,8%). No teste vestibular, as alterações foram predominantemente evidentes no teste calórico (79%), dismetria sacádicas (51%) e no teste rotatório (47%). A presença de alterações ocorreu em 87% dos pacientes. A maioria das alterações observadas foram da disfunção vestibular central (69,3%). Conclusão O estudo ressalta a importância da contribuição da avaliação labiríntica no topodiagnóstico para doenças neurodegenerativas, uma vez que, na maioria dos casos, os sintomas iniciais são otoneurológicos, e essas avaliações também devem ser incluídas na seleção de procedimentos a serem realizados no monitoramento clínico e terapêutico.
Assuntos
Humanos , Masculino , Feminino , Adolescente , Adulto , Pessoa de Meia-Idade , Idoso , Adulto Jovem , Degenerações Espinocerebelares/diagnóstico , Degenerações Espinocerebelares/epidemiologia , Doenças Vestibulares/diagnóstico , Doenças Vestibulares/epidemiologia , Testes de Função Vestibular/métodos , Brasil/epidemiologia , Transtornos de Deglutição/fisiopatologia , Transtornos de Deglutição/epidemiologia , Degenerações Espinocerebelares/fisiopatologia , Degenerações Espinocerebelares/genética , Nistagmo Patológico/fisiopatologia , Nistagmo Patológico/epidemiologia , Reação em Cadeia da Polimerase , Prevalência , Estudos Transversais , Estudos Retrospectivos , Distribuição por Sexo , Transtornos Neurológicos da Marcha/fisiopatologia , Transtornos Neurológicos da Marcha/epidemiologia , Tontura/fisiopatologia , Tontura/epidemiologia , Disartria/fisiopatologia , Disartria/epidemiologia , MutaçãoRESUMO
The aim of this study was to identify potential risk factors linked to neurologic events (NE) occurring after liver transplantation (LT) and use them to construct a model to predict such events. From odds ratios (OR) of risk factors, a scoring system was assessed using multivariate regression analysis. Forty-one of 307 LT patients presented NE (13.3%), with prolonged hospital stay and decreased post-LT survival. On multivariate analysis, factors associated with NE included: severe pre-LT ascites OR 3.9 (1.80-8.41; P = 0.001), delta sodium ≥12 mEq/l OR 3.5 (1.36-8.67; P = 0.01), and post-LT hypomagnesemia OR 2.9 (1.37-5.98; P = 0.005). Points were assigned depending on ORs as follows: ascites 4 points, and hypomagnesemia and delta sodium ≥12 mEq/l, 3 points each (score range = 0-10 points). ROC curve analysis suggested good discriminative power for the model, with a c-statistic of 0.72 (CI 0.62-0.81; P < 0.0001), best performance for a cutoff value >3 points (71% sensitivity, 60% specificity). NE risk increased progressively from 6.4%, to 10.3%, 12.8%, 31.5% and 71.0% as scores rose from 0 to 3, 4, 6-7 and 10 cumulative points, respectively. The score described helps to identify patients potentially at risk for neurologic events, and its prevention would decrease morbidity and mortality after LT.
Assuntos
Transtornos da Consciência/epidemiologia , Delírio/epidemiologia , Disartria/epidemiologia , Transplante de Fígado , Transtornos dos Movimentos/epidemiologia , Complicações Pós-Operatórias/epidemiologia , Convulsões/epidemiologia , Transtornos da Visão/epidemiologia , Adulto , Idoso , Intervalos de Confiança , Transtornos da Consciência/etiologia , Delírio/etiologia , Disartria/etiologia , Feminino , Humanos , Estimativa de Kaplan-Meier , Tempo de Internação/estatística & dados numéricos , Magnésio/sangue , Masculino , Pessoa de Meia-Idade , Transtornos dos Movimentos/etiologia , Razão de Chances , Complicações Pós-Operatórias/sangue , Complicações Pós-Operatórias/etiologia , Estudos Retrospectivos , Risco , Convulsões/etiologia , Sódio/sangue , Transtornos da Visão/etiologiaRESUMO
OBJECTIVE: To define the neurologic characteristics and course of ataxia-telangiectasia (A-T). STUDY DESIGN: Retrospective cross-sectional chart study of 57 children (ages 2 to 19 years) followed at an A-T clinic. Cerebellar and extracerebellar symptoms were graded according to degree of functional impairment. Head circumferences were plotted from the charts and z-scores were calculated and compared with that of family members. RESULTS: Ataxia was present in 87.7%, followed by dysarthria (82.1%), dysmetria (75.4%), bradykinesia (69.2%), hyperkinetic movements (58.9%), and dystonia (15.8%). All features aggravated with age. The most striking clinical observation in our patients was low head circumference (z-score below 1), which was present in 60.9%; 17% had true microcephaly (z-score below 2). Microcephaly appeared postnatally, was proportionate to height and weight, and did not correlate with severity of ataxia or genotype. CONCLUSIONS: In addition to cerebellar ataxia, extrapyramidal symptoms, especially bradykinesia, were frequent and disabling. Microcephaly is an integral part of A-T; understanding its pathogenesis may shed light on the mechanism by which ATM mutation causes dysfunction in the nervous system.