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Severe congenital factor X deficiency with intracranial bleeding in two siblings. | LitMetric

AI Article Synopsis

  • - Congenital factor X deficiency is a rare genetic disorder that leads to bleeding tendencies and can be mistaken for hemorrhagic disease of the newborn due to similar symptoms.
  • - A new case study documented two infants from the same family who experienced severe intracranial bleeding due to this deficiency, highlighting its serious implications.
  • - Plasma replacement therapy was ineffective for these infants, indicating that factor X deficiency should be considered as a potential diagnosis in newborns presenting with intracranial bleeding.

Article Abstract

Congenital factor X deficiency is a rare autosomal recessive disorder that usually presents with variable bleeding tendency, prolonged prothrombin time and partial thromboplastin time. Therefore, it may be misdiagnosed as hemorrhagic disease of the newborn. Factor X level should be investigated for the definite diagnosis. We first report a new family whose two infants presented with severe intracranial bleeding at different times and were found to have congenital factor X deficiency. Plasma replacement therapy was not found to be efficacious in these infants. In conclusion, a possible factor X deficiency should be considered when a newborn presents with intracranial bleeding.

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Source
http://dx.doi.org/10.1016/S0387-7604(03)00119-0DOI Listing

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