RESUMEN
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.
Asunto(s)
Enfermedad de Crohn/genética , Esofagitis/genética , Herpes Simple/genética , Péptidos y Proteínas de Señalización Intracelular/genética , Receptor Toll-Like 3/genética , Aciclovir/uso terapéutico , Adulto , Anticuerpos Monoclonales Humanizados/uso terapéutico , Antivirales/uso terapéutico , Enfermedad de Crohn/tratamiento farmacológico , Enfermedad de Crohn/inmunología , Esofagitis/inmunología , Esofagitis/virología , Femenino , Fármacos Gastrointestinales/uso terapéutico , Herpes Simple/tratamiento farmacológico , Herpes Simple/inmunología , Herpes Simple/prevención & control , Humanos , Péptidos y Proteínas de Señalización Intracelular/inmunología , Mutación , Transducción de Señal , Receptor Toll-Like 3/inmunología , Valganciclovir/uso terapéutico , Secuenciación Completa del GenomaRESUMEN
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.