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Upshaw-Schulman Syndrome With c.2728C>T Mutation in ADAMTS13 Gene.
- Source :
-
Journal of pediatric hematology/oncology [J Pediatr Hematol Oncol] 2019 Jan; Vol. 41 (1), pp. e60-e62. - Publication Year :
- 2019
-
Abstract
- Congenital thrombotic thrombocytopenic purpura is a rare autosomal recessive disorder presenting with hemolytic anemia, thrombocytopenia, micro vascular thrombosis, and end organ damage. Here, we present a case of a 7-year-old girl having recurrent neonatal hemolysis, developmental delay, frequent seizures, and thrombocytopenia. Characteristic clinical picture and gene sequencing of a disintegrin and metalloproteinase with thrombospondin motifs 13 confirmed the diagnosis of Upshaw-Schulman syndrome. She was treated successfully with plasma infusion. The patient is alive at 6-month post follow-up, and on regular plasma therapy. Congenital thrombotic thrombocytopenic purpura should be considered in the differential diagnosis of thrombocytopenia with hemolytic anemia in infants.
Details
- Language :
- English
- ISSN :
- 1536-3678
- Volume :
- 41
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Journal of pediatric hematology/oncology
- Publication Type :
- Academic Journal
- Accession number :
- 29771863
- Full Text :
- https://doi.org/10.1097/MPH.0000000000001226