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A Case Report of Congenital Thrombotic Thrombocytopenic Purpura: The Peripheral Blood Smear Lights the Diagnosis.

Authors :
Toret E
Demir-Kolsuz O
Ozdemir ZC
Bor O
Source :
Journal of pediatric hematology/oncology [J Pediatr Hematol Oncol] 2022 Jan 01; Vol. 44 (1), pp. e243-e245.
Publication Year :
2022

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.<br />Competing Interests: The authors declare no conflict of interest.<br /> (Copyright © 2020 Wolters Kluwer Health, Inc. All rights reserved.)

Details

Language :
English
ISSN :
1536-3678
Volume :
44
Issue :
1
Database :
MEDLINE
Journal :
Journal of pediatric hematology/oncology
Publication Type :
Academic Journal
Accession number :
33306605
Full Text :
https://doi.org/10.1097/MPH.0000000000002032