Case of juvenile dermatomyositis (JDM), thrombotic thrombocytopenic purpura (TTP), and Purtscher retinopathy

Methods Here we describe a previously healthy and athletic 12 year old female who was diagnosed with JDM following a period of two weeks of pruritic rash, fever, headaches, muscle pain and weakness. Her work-up was significant for elevated muscle enzymes and an abnormal MRI of bilateral quadriceps that demonstrated increased signal intensity. The patient was hospitalized for intravenous pulse methylprednisolone and intravenous immunoglobulin (IVIG) treatment. She showed significant improvement in her skin rash and muscle weakness, and was discharged with oral prednisone, naproxen and methotrexate. The patient returned to the hospital one week after discharge with complaints of blurry vision and headaches. In the emergency department the patient was noted to have retinal infarcts and was admitted directly to the Pediatric Intensive Care Unit (PICU). She was found to have thrombocytopenia, hemolytic anemia and renal failure. During her PICU stay she developed seizures and pulmonary edema and was subsequently diagnosed with TTP and severe retinopathy. Her ADAMTS-13 activity was found to be low (64%). She was treated with pulse steroid therapy, hemodialysis, plasmapheresis, multiple infusions of Fresh Frozen Plasma (FFP) and IVIG, but her condition continued to deteriorate. After four days of plasmapheresis and three days of hemodialysis she was given rituximab. Within 48 hours after rituximab treatment her condition dramatically improved. Rituximab was given at the same dose once weekly for 4 total doses, and no additional courses of rituximab were necessary.