RESUMEN
Objective: To highlight a novel, treatable syndrome, we report 4 patients with CNS-isolated inflammation associated with familial hemophagocytic lymphohistiocytosis (FHL) gene mutations (CNS-FHL). Methods: Retrospective chart review. Results: Patients with CNS-FHL are characterized by chronic inflammation restricted to the CNS that is not attributable to any previously described neuroinflammatory etiology and have germline mutations in known FHL-associated genes with no signs of systemic inflammation. Hematopoietic stem cell transplantation (HCT) can be well tolerated and effective in achieving or maintaining disease remission in patients with CNS-FHL. Conclusions: Early and accurate diagnosis followed by treatment with HCT can reduce morbidity and mortality in CNS-FHL, a novel, treatable syndrome. Classification of evidence: This study provides Class IV evidence that HCT is well tolerated and effective in treating CNS-FHL.
Asunto(s)
Enfermedades del Sistema Nervioso Central/diagnóstico , Linfohistiocitosis Hemofagocítica/diagnóstico , Enfermedades del Sistema Nervioso Central/genética , Niño , Preescolar , Femenino , Mutación de Línea Germinal , Humanos , Linfohistiocitosis Hemofagocítica/genéticaAsunto(s)
Factor de Transcripción GATA2/deficiencia , Pneumocystis carinii , Neumonía por Pneumocystis/etiología , Adulto , Femenino , Humanos , Linfedema/complicaciones , Linfopenia/complicaciones , Infecciones por Papillomavirus/complicaciones , Neumonía por Pneumocystis/diagnóstico , Linfocitopenia-T Idiopática CD4-Positiva/complicacionesRESUMEN
Myeloperoxidase deficiency is the most common inherited phagocyte disorder (1:2000) and causes an abnormal dihydrorhodamine oxidation test, which also is seen in chronic granulomatous disease. A patient with Candida meningitis and low dihydrorhodamine oxidation signal was diagnosed with chronic granulomatous disease but actually had compound heterozygous myeloperoxidase deficiency.