RESUMO
Primary Whipple disease of the Central Nervous System is a rare entity whose outcome might be fatal if not promptly diagnosed and treated. Few cases are reported in the literature with heterogeneous clinical and radiological presentations which often make the diagnosis extremely challenging. We report a case of primary Whipple disease of the Central Nervous System presenting with rhombencephalitis in a female patient in immunosuppressive treatment for rheumatoid arthritis. We describe the management of our patient and discuss the features of this rare clinical entity.
Assuntos
Encefalite/diagnóstico , Doença de Whipple/diagnóstico , Idoso , Antibacterianos/administração & dosagem , Sistema Nervoso Central/diagnóstico por imagem , Encefalite/imunologia , Feminino , Humanos , Combinação Trimetoprima e Sulfametoxazol/administração & dosagem , Doença de Whipple/tratamento farmacológico , Doença de Whipple/imunologiaAssuntos
Coreia/genética , Doença dos Neurônios Motores/genética , Mutação/genética , RNA Helicases/genética , Atrofia/etiologia , Cerebelo/patologia , Coreia/complicações , DNA Helicases , Análise Mutacional de DNA , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Doença dos Neurônios Motores/complicações , Enzimas Multifuncionais , Medula Espinal/patologiaRESUMO
The presence of an angiitis process in the central nervous system (CNS) characterizes different groups of conditions: from idiopathic pachymeningitis to lymphoproliferative disorders. In absence of specific infections, inflammatory and neoplastic diseases, the term "PACNS" (Primary Angiitis of the CNS) was proposed to indicate a peculiar vascular inflammation of unknown origin of meningeal vessels extending to the brain or spinal cord parenchyma. We report two cases of PACNS with peculiar and atypical features: the first one with a possible Epstein Barr Virus (EBV) relationship, the second one with spinal cord involvement only, treated surgically. We also hypothesize a correlation between EBV chronic infection and possible subtypes of PACNS stressing the importance of EBER (EBV-encoded RNA) test in the routine examination of brain biopsies suspicious for PACNS.
Assuntos
Vasculite do Sistema Nervoso Central/diagnóstico , Vasculite do Sistema Nervoso Central/cirurgia , Adulto , Evolução Fatal , Feminino , Humanos , Adulto JovemRESUMO
The authors describe a case of primary progressive multifocal leukoencephalopathy (pPML). Unlike previous similar reports, our patient underwent up-to-date and extensive in vivo and post-mortem investigations that established beyond doubt the competence of his immune system and the absence of underlying predisposing disorders. The various implications of this case, both clinical and related to the possible pathogenetic mechanisms of JC virus infection, are discussed.
