title: Familial infantile thrombotic thrombocytopenic purpura.
abstract: OBJECTIVE
  To further define familial infantile thrombotic thrombocytopenic purpura and clarify its pathophysiology, we describe a family with two infants presenting with this rare syndrome.
  
  
  RESULTS
  Complete, but temporary remission followed the transfusion of whole blood in the first sibling and fresh frozen plasma (FFP) in the second. Periodic FFP transfusions have kept the surviving proband in a prolonged clinical remission. The presence of unusually large von Willebrand factor multimers was demonstrated in the proband and the processing activity of these large multimers was found to be normal.
  
  
  CONCLUSIONS
  The occurrence of this rare disorder, in siblings who are products of a consanguinous union, suggests an as yet uncharacterized genetic defect.
authors.affiliation: Department of Pediatrics, University of Miami/Jackson Memorial Medical Center, Miami, Florida 33101, USA.
authors.forename: D
authors.initials: D
authors.lastname: Daghistani
authors.forename: J J
authors.initials: JJ
authors.lastname: Jimenez
authors.forename: J L
authors.initials: JL
authors.lastname: Moake
authors.forename: M R
authors.initials: MR
authors.lastname: Ledford
authors.forename: A A
authors.initials: AA
authors.lastname: Yunis
mesh_terms: D005260:Female; D006801:Humans; D007223:Infant; D011697:Purpura, Thrombotic Thrombocytopenic / Q000097:blood / Q000503:physiopathology / Q000628:therapy; D012310:Ristocetin / Q000097:blood; D014841:von Willebrand Factor / Q000378:metabolism
chemical_list: D014841:von Willebrand Factor; D012310:Ristocetin