RESUMO
Genetic aberrations in the toll-like receptor (TLR)3 pathway are associated with increased susceptibility to herpes simplex virus (HSV) infections. Leucine-rich repeat and PYD-containing protein (NLRP)12 is a component of the inflammasome apparatus, which is critical to an immediate innate inflammatory response. Aberrations in NLRP12 have been shown to mediate auto-inflammation. In this study, we present a 44-year old patient with severe HSV esophagitis and Crohn's disease. An immune and genetic investigation confirmed two coinciding genetic mutations in TLR3 and NLRP12. Our findings support conducting laboratory workup that targets TLR3 pathway in the immunocompetent host developing recurrent HSV infections.
Assuntos
Doença de Crohn/genética , Esofagite/genética , Herpes Simples/genética , Peptídeos e Proteínas de Sinalização Intracelular/genética , Receptor 3 Toll-Like/genética , Aciclovir/uso terapêutico , Adulto , Anticorpos Monoclonais Humanizados/uso terapêutico , Antivirais/uso terapêutico , Doença de Crohn/tratamento farmacológico , Doença de Crohn/imunologia , Esofagite/imunologia , Esofagite/virologia , Feminino , Fármacos Gastrointestinais/uso terapêutico , Herpes Simples/tratamento farmacológico , Herpes Simples/imunologia , Herpes Simples/prevenção & controle , Humanos , Peptídeos e Proteínas de Sinalização Intracelular/imunologia , Mutação , Transdução de Sinais , Receptor 3 Toll-Like/imunologia , Valganciclovir/uso terapêutico , Sequenciamento Completo do GenomaRESUMO
Facial paralysis may occur as a complication of central nervous system leukemias in children, but it is rarely a presenting symptom. This report describes an 8-month-old child who presented with peripheral facial palsy, failure to thrive, anemia, and otitis media. Antibiotic and steroid treatment led to an improvement in the clinical condition, but not the paralysis. At readmission 3 weeks later, physical examination revealed bluish, firm, palpable masses on the scalp and facial areas, and laboratory and imaging studies confirmed the diagnosis of acute myeloid leukemia. This case should alert physicians to consider hematologic malignancies in children with facial paralysis.