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

Resham, Shahzadi; Fadoo, Zehra; Moiz, Bushra.
J Pediatr Hematol Oncol; 41(1): e60-e62, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-29771863
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.
Selo DaSilva