Upshaw-Schulman syndrome with c.2728C>T Mutation in ADAMTS13 Gene
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.
Journal of Pediatric Hematology/Oncology
(2018). Upshaw-Schulman syndrome with c.2728C>T Mutation in ADAMTS13 Gene. Journal of Pediatric Hematology/Oncology.
Available at: https://ecommons.aku.edu/pakistan_fhs_mc_women_childhealth_paediatr/365