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.
Highlights
Upshaw-Schulman syndrome (USS) or Congenital thrombotic thrombocytopenic purpura (TTP) is a rare lifethreatening recessively inherited disease characterized by thrombocytopenia, microangiopathic haemolytic anaemia, microvascular thrombosis and ischemic damage of multiple organs with end stage renal failure or neurological sequelae in the absence of appropriate treatment
It can be congenital or acquired; Congenital TTP is associated with a genetic mutation in ADAMTS13, which cuts von Willebrand factor into smaller pieces, thereby formation of unnecessary blood clots
At age of 16 months, patient presented with high grade fever and sudden onset right sided facial palsy associated with severe thrombocytopenia, platelet counts 34x 109/L
Summary
Upshaw-Schulman syndrome (USS) or Congenital thrombotic thrombocytopenic purpura (TTP) is a rare lifethreatening recessively inherited disease characterized by thrombocytopenia, microangiopathic haemolytic anaemia, microvascular thrombosis and ischemic damage of multiple organs with end stage renal failure or neurological sequelae in the absence of appropriate treatment. At age of 16 months, patient presented with high grade fever and sudden onset right sided facial palsy associated with severe thrombocytopenia, platelet counts 34x 109/L. He referred to our Paediatric Haematology and Oncology Department for further evaluation and management. Patient was kept on regular plasma transfusion every 2 weeks till age of 31 months, by this time when he presented for routine plasma transfusion, he was drowsy and hypoactive His vital signs showed high blood pressure reading in the arms with low blood pressure in the lower extremities, (right arm 150/91 mmHg, left arm 155/94 mmHg, right leg 97/71 mmHg, and left leg 95/68 mmHg).
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