Assuntos
Transplante de Células-Tronco Hematopoéticas , Depleção Linfocítica , Subunidade p45 do Fator de Transcrição NF-E2/genética , Trombocitopenia/genética , Trombocitopenia/terapia , Adolescente , Mutação da Fase de Leitura , Transplante de Células-Tronco Hematopoéticas/métodos , Humanos , Depleção Linfocítica/métodos , Masculino , Mutação , Linfócitos T/citologia , Trombocitopenia/congênito , Resultado do TratamentoRESUMO
Langerhans cell histiocytosis (LCH) is a rare disorder characterized by proliferation and accumulation of clonal dendritic cells with varied clinical presentation and an unpredictable course. We report a 5-month-old infant with LCH who presented with severe respiratory distress, a large mediastinal mass, significant generalized lymphadenopathy, and hepatosplenomegaly. Lymphoma, especially T cell lymphoblastic lymphoma, can present with superior mediastinal syndrome needing urgent empirical therapy without biopsy. However, lack of response prompted a biopsy which confirmed it to be a case of LCH and that leads to appropriate therapy and survival. There have been reports of LCH presenting with isolated mediastinal mass or with generalized lymphadenopathy, but the combined presentation of generalized lymphadenopathy with large mediastinal mass, hepatosplenomegaly, and fever in an infant has rarely been reported. Conclusion. LCH should also be considered in the differential diagnosis of an infant presenting with generalized lymphadenopathy, mediastinal mass, hepatosplenomegaly, and fever.