An Unusual Cause of Mutism

Abstract

INTRODUCTION: Thrombotic Thrombocytopenia Purpura (TTP) is characterized by intravascular destruction of erythrocytes and blood platelets leading to microangiopathic hemolytic anemia, thrombocytopenia, renal failure, neurological changes, and fevers. TTP has an untreated mortality rate of > 90%. TTP-like disorders have been associated with medications, human immunodeficiency virus, bone marrow transplantation, and pregnancy, however, most cases are sporadic. There are multiple hypothesis regarding the pathogenesis of TTP and the standard treatment. Here we present a review of pathogenesis and treatment of a severe case of TTP. CASE PRESENTATION: 22-year-old freedom impaired male with a history of hypertension presented with altered mental status and new onset mutism for three days. On initial evaluation, the patient was mute and did not follow commands but was alert. Lab work demonstrated Hemoglobin/Hematocrit 7.2/21.9, Platelet count of 10,000, BUN/Cr 43/2.3, total bilirubin 7.7, direct bilirubin 0.6 indirect bilirubin 7.1, and LDH 2258, schistocytes on peripheral blood smear seen, Coombs test negative, elevated reticulocyte count, haptoglobin < 8, and ADAMTS 13 activity < 3. A diagnosis of thrombotic thrombocytopenic purpura (TTP) was made based on the criteria of thrombocytopenia, altered mental status, microangiopathic anemia, elevated LDH, and renal failure. He was started on plasma exchange for five days with Methylprednisolone for three days. After initiation of therapy, his symptoms improved. He rapidly became oriented and responsive to questions. Labs were improving with LDH decreasing and ADAMTS 13 activity improved to 87. He was discharged back to the facility on a slow Prednisone taper to be done over 5 weeks. DISCUSSION: Thrombotic Thrombocytopenic Purpura is a disorder with characteristic von Willebrand (VWF) rich microthrombi affecting the arterioles and capillaries of multiple organs, including brain, kidney, or heart. Multiple studies have confirmed that this disorder is due to a deficiency in plasma metalloprotease such as ADMATS13. If not treated in a timely manner it frequently leads to an early death. Once diagnosed patient needs to be immediately started on plasma exchange, delay in plasma exchange (PEX) can lead to adverse events. Additionally, patient should be started on corticosteroids as well. If PEX is not effective then Rituximab may be used. CONCLUSIONS: TTP presents with microangiopathic hemolytic anemia, thrombocytopenia, renal failure, neurological changes, and fever; can be diagnosed by peripheral blood smear showing schistocytes, elevated creatinine, thrombocytopenia, and other labs consistent with destruction of erythrocytes. Once diagnosed immediate treatment with PEX and steroids is warranted to avoid adverse events or death.