Back to Search Start Over

Upshaw-Schulman Syndrome With c.2728C>T Mutation in ADAMTS13 Gene.

Authors :
Resham S
Fadoo Z
Moiz B
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