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1.
Neurol Neuroimmunol Neuroinflamm ; 6(3): e560, 2019 05.
Artículo en Inglés | MEDLINE | ID: mdl-31044148

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/genética
3.
J Pediatr ; 176: 204-6, 2016 09.
Artículo en Inglés | MEDLINE | ID: mdl-27301573

RESUMEN

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.


Asunto(s)
Enfermedad Granulomatosa Crónica/diagnóstico , Errores Innatos del Metabolismo/diagnóstico , Diagnóstico Diferencial , Reacciones Falso Positivas , Humanos , Masculino , Oxidación-Reducción , Rodaminas/metabolismo , Adulto Joven
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