Familial infantile thrombotic thrombocytopenic purpura

Doured Daghistani, Joaquin J. Jimenez, Joel L. Moake, Marlies R. Ledford, Adel A. Yunis

Research output: Contribution to journalArticlepeer-review

16 Scopus citations

Abstract

Purpose: 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. Conclusion: The occurrence of this rare disorder, in siblings who are products of a consanguinous union, suggests an as yet uncharacterized genetic defect.

Original languageEnglish (US)
Pages (from-to)171-174
Number of pages4
JournalJournal of Pediatric Hematology/Oncology
Volume18
Issue number2
DOIs
StatePublished - May 22 1996

Keywords

  • thrombotic thrombocytopenic purpura

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Oncology
  • Hematology

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