Introduction == We survey a diagnostic dilemma involving a 16-year-old male who presented with thrombocytopenia and nonspecific symptoms, including malaise and fever

Introduction == We survey a diagnostic dilemma involving a 16-year-old male who presented with thrombocytopenia and nonspecific symptoms, including malaise and fever. a viral illness, even though thrombocytopenia persisted and he was found to have adenopathy and splenomegaly. He was ultimately diagnosed with an unusual contamination acquired from livestock exposure. Although he was treated with appropriate antibiotics, the thrombocytopenia and splenomegaly persisted. An immunologic evaluation was ultimately performed and he was diagnosed more than two years after presentation. He was placed on appropriate therapy and is currently doing well. The protean manifestations of this disorder often result in a delayed diagnosis by several years and are examined in detail here. This disorder is usually more common than you think. == 2. Case Presentation == A 16-year-old male presented with fever, malaise, and decreased energy for 3 days. He was diagnosed with a viral illness, although symptoms persisted. He developed bruising and lost 50 pounds over the ensuing 3 months. Physical examination showed an exudative pharyngitis. A throat culture was unremarkable and blood counts showed the following: hemoglobin 16 g/dL, white blood cell (WBC) count 3,400/mm3, and platelet count 80,000/mm3; a differential was not obtained. Four months later, he was evaluated by an oncologist who noted axillary and inguinal adenopathy. The stomach was obese and hepatosplenomegaly was not appreciated. Blood counts showed the following: Mcl1-IN-11 hemoglobin 15.5 g/dL, platelet count 66,000/mm3and WBC 2,900/mm3with 54% neutrophils, 32% lymphocytes, 9% monocytes, and 5% eosinophils. There were atypical, reactive-appearing lymphocytes around the peripheral blood smear. Computed tomography (CT) of the chest, pelvis, and stomach showed splenomegaly (19 cm) and diffuse abdominal lymphadenopathy. A biopsy of the left axillary node revealed reactive hyperplasia. Bone marrow aspirate and biopsy showed moderate hypocellularity with normal trilineage hematopoiesis and no evidence for malignancy. Circulation cytometry of the lymph node and bone marrow showed no abnormalities. The malaise persisted and the patient was evaluated by an infectious disease specialist 8 months after presentation. Physical examination was unremarkable; the adenopathy experienced resolved. Thrombocytopenia and leukopenia persisted (platelet count 73,000/mm3; WBC count 3,200/mm3). Serology studies for CMV, EBV, HIV, andBartonellawere all unfavorable. Mcl1-IN-11 Because he worked on a farm with exposure to livestock, titers for brucellosis were sent and were unfavorable. However, titers forCoxiella burnetiiwere consistent with an acute Q fever contamination (phase I IgG Ab <1 : 16, phase II IgG 1 : 256). He was started on doxycycline (100 mg twice daily). A transthoracic echocardiogram showed possible vegetation, although a transesophageal echocardiogram was normal. Thrombocytopenia and leukopenia persisted and repeat imaging studies 6 and 12 months after presentation showed prolonged intra-abdominal adenopathy and splenomegaly. He was therefore treated with doxycycline for 2 years after which there was no detectableCoxiellaDNA by polymerase chain reaction. Given the prolonged cytopenias, adenopathy, and splenomegaly for >2 years, the patient was referred to our hematology medical center. Recent medical history was notable for occasional atopic dermatitis and tonsillectomy at age 3 for recurrent pharyngitis. Family history was notable for any paternal uncle who died from metastatic colon cancer. There was no family history of other malignancies or unusual infections. The patient appeared well and was Mcl1-IN-11 afebrile with no appreciable adenopathy, organomegaly, or cutaneous bleeding. Blood counts showed the following: hemoglobin 15.4 g/dL, platelet count 100,000/mm3, and WBC count 4,077/mm3with 25% lymphocytes, 8% monocytes, 63% neutrophils, and 4% eosinophils. The peripheral blood smear showed occasional, atypical, reactive-appearing lymphocytes. Peripheral blood flow cytometry showed no clonal Rabbit Polyclonal to GTPBP2 abnormalities. Abdominal ultrasound showed prolonged splenomegaly and adenopathy (Physique 1). == Physique 1. == Abdominal ultrasound demonstrating lymphadenopathy and splenomegaly. (a) The lymph node diameter (3.1 cm) is usually demarcated by the arrows. (b) The spleen sizes (18.3 cm 9.3 cm) are demarcated.