Homozygous congenital factor VII deficiency with a novel mutation, associated with severe spontaneous intracranial bleeding in a neonate

Blood Coagul Fibrinolysis. 2018 Jul;29(5):476-480. doi: 10.1097/MBC.0000000000000748.

Abstract

Objective: Herein, a neonate with congenital FVII deficiency is presented.

Basic method: Diagnosis of congenital FVII deficiency was confirmed by genetic analysis using next-generation sequencing method (MiSeq-Illumina).

Result: Our patient was found to have a novel homozygous mutation.

Conclusion: Early diagnosis and treatment of congenital FVII deficiency can be crucial.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Factor VII Deficiency / complications*
  • Factor VII Deficiency / genetics
  • Female
  • Humans
  • Infant, Newborn
  • Intracranial Hemorrhages / etiology*
  • Intracranial Hemorrhages / pathology
  • Male
  • Mutation