Upshaw-Schulman syndrome with c.2728C>T Mutation in ADAMTS13 Gene

Document Type



Paediatrics and Child Health; Haematology/Oncology; Pathology and Laboratory Medicine


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.

Publication (Name of Journal)

Journal of Pediatric Hematology/Oncology