Upshaw-Schulman Syndrome with a Novel Deletion in Exon 17 of ADAMTS 13 Gene

Upshaw-Schulman syndrome is a rare congenital form of thrombotic thrombocytopenic purpura (TTP) characterized by single or recurrent episodes of thrombocytopenia, microangiopathic hemolyticanemia (MAHA), and widespread microvascular thrombosis, leading to the ischemic damage of multiple organs (mainly kidney, heart and brain). A 6-mo-old female infant, second born of a third-degree consanguineous marriage, with a history of severe neonatal jaundice with thrombocytopenia secondary to hemolysis requiring exchange transfusion on day 2 of life, presented with high-grade fever without focus of 2-d duration. Initial workup revealed microangiopathic hemolyticanemia with thrombocytopenia. In view of microangiopathic hemolyticanemia with thrombocytopenia against a background of severe neonatal jaundice, a diagnosis of congenital TTP was considered and was managed with FFP transfusion. The diagnosis was confirmed with her exome sequencing showing autosomal recessive homozygous frameshift deletion c.2063delG (p.Trp688fs) at Exon 17 (NM_139025) of ADAMTS 13 gene.