title: A congenital variant of thrombotic thrombocytopenic purpura in two siblings.
abstract: We describe two siblings affected by chronic relapsing thrombotic thrombocytopenic purpura from infancy. The elder brother, a 12-year-old boy had 50 such episodes characterized by acute onset of fever, headache, drowsiness, vomiting, dark urine, thrombocytopenia and anemia. The younger sister, a 6-year-old girl, had 8 episodes with the same clinical manifestations. Petechiae and ecchymoses on the extremities were present throughout their lives. Furthermore, anemia with evidence of red blood cell fragmentation and thrombocytopenia were present chronically. Periodical transfusion of frozen fresh plasma prevented recurrent episodes. These cases suggest that there is a congenital variant of thrombotic thrombocytopenic purpura.
authors.affiliation: Third Department of Internal Medicine, Yamaguchi University School of Medicine, Ube.
authors.forename: Y
authors.initials: Y
authors.lastname: Azuno
authors.forename: K
authors.initials: K
authors.lastname: Kaku
authors.forename: K
authors.initials: K
authors.lastname: Shino
authors.forename: S
authors.initials: S
authors.lastname: Kamei
authors.forename: M
authors.initials: M
authors.lastname: Nishimura
authors.forename: K
authors.initials: K
authors.lastname: Okafuji
authors.forename: Y
authors.initials: Y
authors.lastname: Inoue
authors.forename: N
authors.initials: N
authors.lastname: Matsumoto
authors.forename: T
authors.initials: T
authors.lastname: Kaneko
mesh_terms: D002648:Child; D002675:Child, Preschool; D002908:Chronic Disease; D005260:Female; D006801:Humans; D008297:Male; D009679:Nuclear Family; D011697:Purpura, Thrombotic Thrombocytopenic / Q000151:congenital* / Q000473:pathology / Q000628:therapy