ABSTRACT
Systemic lupus erythematosus (SLE) is an autoimmune disease that affects multiple organ systems. Patients can have hematologic manifestations, including Evans syndrome (ES), which is characterized by immune-mediated thrombocytopenia and anemia. The association of neurofibromatosis 1 (NF1) with autoimmune disorders is rarely reported. We will review the literature for this combination of disorders and describe a case of a 16-year-old girl who presents with immune-mediated cytopenias and is diagnosed with SLE, ES, and NF1. There are 7 reported cases of SLE and NF1 and only 2 are pediatric cases. There are no reports of the combination of SLE, ES, and NF1.
Subject(s)
Anemia, Hemolytic, Autoimmune , Lupus Erythematosus, Systemic , Neurofibromatosis 1 , Thrombocytopenia , Adolescent , Anemia, Hemolytic, Autoimmune/blood , Anemia, Hemolytic, Autoimmune/complications , Anemia, Hemolytic, Autoimmune/diagnosis , Female , Humans , Lupus Erythematosus, Systemic/blood , Lupus Erythematosus, Systemic/complications , Lupus Erythematosus, Systemic/diagnosis , Neurofibromatosis 1/blood , Neurofibromatosis 1/complications , Neurofibromatosis 1/diagnosis , Thrombocytopenia/blood , Thrombocytopenia/complications , Thrombocytopenia/diagnosisABSTRACT
A 7-month-old female infant had clinical and laboratory evidence of severe warm autoimmune hemolytic anemia. She also had clinical evidence of an upper respiratory tract infection with molecular detection of Mycoplasma pneumoniae. Although reticulocytopenic initially, she responded to red blood cell transfusion, steroids, and intravenous immunoglobulin and remains well today. With the increasing use of multiplex respiratory viral and bacterial pathogen detection systems, the rare association described in this report may prove to be more common than previously thought and may provide insight into the pathogenesis and clinical consequences of red blood cell autoantibodies.
