Novel Mutation of Upshaw-Schulman Syndrome Associated with Coarctation of Aorta in Palestinian Child

Abstract

Upshaw-Schulman syndrome is a rare inherited form of thrombotic thrombocytopenic purpura disease caused by deficiency of ADAMTS13 and reversible by fresh frozen plasma infusions. Unlike the more common acquired thrombotic thrombocytopenic purpura, patient with Upshaw-Schulman syndrome generally presents early life with a repeated episodes of microangiopathic haemolytic anaemia, usually triggered by acute illness. There are few reported cases about congenital thrombotic thrombocytopenic purpura and long term prognosis.    We describe a 16 months old Palestinian male patient with history of severe neonatal jaundice, microangiopathic haemolytic anaemia and thrombocytopenia triggered by febrile illness associated with facial palsy as neurological manifestation favoured congenital thrombotic thrombocytopenic purpura. Low ADAMTS13 level and improvement in platelet counts after fresh frozen plasma infusion with novel mutation of Leu209Pro in exon 6 of the ADAMTS13 gene confirmed the diagnosis of congenital thrombotic thrombocytopenic purpura in our patient who later on developed coarctation of aorta suggested thrombotic complication of ADAMTS13/VWF missing axis dysfunction.

Keywords

• Upshaw-Schulman syndrome (USS)
• congenital thrombotic thrombocytopenic purpura (TTP)
• novel mutation
• ADAMTS13
• von Willebrand factor
• coarctation of aorta