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

Shahzadi Resham, Zehra Fadoo, Bushra Moiz

Research output: Contribution to journalArticlepeer-review

2 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)E60-E62
JournalJournal of Pediatric Hematology/Oncology
Issue number1
Publication statusPublished - 1 Jan 2019


  • ADAMTS13
  • TTP
  • hemolysis
  • thrombotic thrombocytopenic purpura


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