RESUMO
The incidence of Epstein-Barr virus (EBV)associated lymphoproliferative disorders has increased with greater use of immunomodulatory therapies. We present a woman who developed subacute cognitive decline and unilateral weakness while taking long-term mycophenolate mofetil for granulomatosis with polyangiitis; her postmortem brain histopathology confirmed an EBV-driven lymphoproliferative disorder. Clinicians must have a high index of suspicion for EBV-driven lymphoma in people taking long-term immunosuppression who develop new neurological problems. We review the role of mycophenolate mofetil in EBV-driven lymphoproliferative disorders, and discuss checking EBV status in all patients starting immunosuppression and in older people already taking immunosuppression.
Assuntos
Hemorragia Cerebral/diagnóstico por imagem , Infecções por Vírus Epstein-Barr/diagnóstico por imagem , Terapia de Imunossupressão/efeitos adversos , Imunossupressores/efeitos adversos , Transtornos Linfoproliferativos/diagnóstico por imagem , Idoso , Hemorragia Cerebral/etiologia , Disfunção Cognitiva/induzido quimicamente , Disfunção Cognitiva/diagnóstico por imagem , Disfunção Cognitiva/etiologia , Infecções por Vírus Epstein-Barr/induzido quimicamente , Infecções por Vírus Epstein-Barr/complicações , Feminino , Humanos , Terapia de Imunossupressão/tendências , Transtornos Linfoproliferativos/etiologia , Ácido Micofenólico/efeitos adversosAssuntos
Miastenia Gravis/complicações , Respiração com Pressão Positiva/efeitos adversos , Embolia Pulmonar/complicações , Insuficiência Respiratória/etiologia , Insuficiência Respiratória/terapia , Descompressão/efeitos adversos , História do Século XX , História do Século XXI , Humanos , Masculino , Insuficiência Respiratória/diagnóstico , Insuficiência Respiratória/história , Fatores de RiscoRESUMO
BACKGROUND: Pathogenic mutations of the human mitochondrial genome are associated with well-characterized, progressive neurological syndromes, with mutations in the transfer RNA genes being particularly prominent. OBJECTIVE: To describe a novel mitochondrial transfer RNA(Pro) gene mutation in a woman with a myoclonic epilepsy with ragged-red fibers-like disease. Design, Setting, and Patient Case report of a 49-year-old woman presenting with a myoclonic epilepsy with ragged-red fibers-like disease comprising myoclonic jerks, cerebellar ataxia, and proximal muscle weakness. RESULTS: Histochemical analysis of a muscle biopsy revealed numerous cytochrome-c oxidase-deficient, ragged-red fibers, while biochemical studies indicated decreased activity of respiratory chain complex I. Molecular investigation of mitochondrial DNA revealed a new heteroplasmic mutation in the TpsiC stem of the mitochondrial transfer RNA(Pro) gene that segregated with cytochrome-c oxidase deficiency in single muscle fibers. CONCLUSIONS: Our case serves to illustrate the ever-evolving phenotypic spectrum of mitochondrial DNA disease and the importance of performing comprehensive mitochondrial genetic studies in the absence of common mitochondrial DNA mutations.