RESUMO
We report the case of a 57-year-old man with neuromyelitis optica spectrum disorder (NMOSD) presenting as acute eosinophilic encephalomyelitis. Magnetic resonance imaging revealed central nervous system lesions typical of NMOSD and anti-aquaporin-4 antibodies in the serum were identified; however, eosinophilia was evident in the cerebrospinal fluid (CSF) at the early stage of the disease. The number of eosinophils in the CSF decreased subsequently. Although activation of eosinophils is known to be an important factor in the development of NMOSD lesions, prominent eosinophilia in the CSF at the early stage of the disease has never been reported in patients with NMOSD.
Assuntos
Anticorpos Anti-Idiotípicos/imunologia , Aquaporina 4/imunologia , Encefalomielite/imunologia , Neuromielite Óptica/imunologia , Anti-Inflamatórios/uso terapêutico , Anticorpos Anti-Idiotípicos/líquido cefalorraquidiano , Aquaporina 4/líquido cefalorraquidiano , Encefalomielite/líquido cefalorraquidiano , Encefalomielite/terapia , Eosinófilos , Humanos , Imunoglobulina E/imunologia , Contagem de Leucócitos , Imageamento por Ressonância Magnética , Masculino , Metilprednisolona/uso terapêutico , Pessoa de Meia-Idade , Neuromielite Óptica/líquido cefalorraquidiano , Neuromielite Óptica/terapiaAssuntos
Paraparesia Espástica Tropical/patologia , Paraparesia Espástica Tropical/fisiopatologia , Medula Espinal/patologia , Medula Espinal/fisiopatologia , Vias Aferentes/patologia , Vias Aferentes/fisiopatologia , Vias Aferentes/virologia , Antígenos Virais/imunologia , Progressão da Doença , Feminino , Transtornos Neurológicos da Marcha/patologia , Transtornos Neurológicos da Marcha/fisiopatologia , Transtornos Neurológicos da Marcha/virologia , Humanos , Imageamento por Ressonância Magnética , Pessoa de Meia-Idade , Espasticidade Muscular/patologia , Espasticidade Muscular/fisiopatologia , Espasticidade Muscular/virologia , Transtornos de Sensação/patologia , Transtornos de Sensação/fisiopatologia , Transtornos de Sensação/virologia , Medula Espinal/virologia , Bexiga Urinaria Neurogênica/patologia , Bexiga Urinaria Neurogênica/fisiopatologia , Bexiga Urinaria Neurogênica/virologia , Carga Viral/imunologiaRESUMO
BACKGROUND: Familial amyloid polyneuropathy (FAP) is distributed worldwide with several endemic foci including two major foci in Japan. OBJECTIVE: To elucidate a nationwide epidemiology of FAP in Japan. DESIGN, SETTING, AND PATIENTS: (i) We analyzed the data of FAP patients registered by the Ministry of Health, Labour, and Welfare, Japan, during 2003-2005. (ii) As Ishikawa prefecture was found to be a novel endemic focus, we examined 27 FAP patients in Ishikawa to characterize their clinical and genetic features in comparison with other endemic foci. RESULTS: (i) The prevalence of familial amyloidosis in Japan was estimated to be 0.87-1.1 per 1,000,000 persons. Nagano prefecture had the highest prevalence (11-15.5), followed by Kumamoto (10.1-10.3), and then Ishikawa (3.5-4.2). (ii) All the FAP patients in Ishikawa had transthyretin (TTR) type FAP; all the families had a TTR Val30Met mutation except one family with a Leu58Arg mutation. FAP with Val30Met mutation in Ishikawa was characterized by late onset, high penetrance, and moderate autonomic dysfunction. CONCLUSIONS: Ishikawa prefecture is the third endemic focus of FAP in Japan. FAP with TTR Val30Met mutation in Japan can be classified to (i) early-onset and endemic (Nagano and Kumamoto), (ii) late-onset and endemic (Ishikawa), and (iii) late-onset and non-endemic types.
