A Case Report of Congenital Thrombotic Thrombocytopenic Purpura: The Peripheral Blood Smear Lights the Diagnosis. Issue 1 (9th January 2022)

• Record Type: Journal Article
• Authors: Toret, Ersin; Demir-Kolsuz, Ozum; Ozdemir, Zeynep Canan; Bor, Ozcan
• Is Part Of: Journal of pediatric hematology/oncology. Volume 44:Issue 1(2022)
• Page Start: e243
• Page End: e245
• Publication Date: 2022-01-09
• Subjects: ADAMTS13 -- congenital TTP -- microangiopathic hemolysis -- schistocyte; Pediatric hematology -- Periodicals; Tumors in children -- Periodicals; 618.9215
• DOI: 10.1097/MPH.0000000000002032
• Languages: English
• ISSNs: 1077-4114

Abstract

Abstract : We report on a 12-year-old boy with congenital thrombotic thrombocytopenic purpura, on who had an erroneous diagnosis as chronic immune thrombocytopenia. The patient presented with complaints of jaundice and skin rash. Laboratory analysis showed nonimmune hemolytic anemia and severe thrombocytopenia. Peripheral blood smear showed 8% schistocytes, polychromasia, and anisocytosis. The ADAMTS13 antigen and activity were suspected to be lower than 5% with any antibodies against the enzyme. The DNA sequence analyses resulted in compound heterozygosity consisting of c.291_391del in exon 3 and c.4143dupA in exon 29. Schistocyte (fragmented erythrocytes) on the peripheral blood smear is a light that illuminates the diagnosis. Early recognition of the disease can prevent inappropriate treatments and morbidities due to organ damage.