Severe Factor X Deficiency Presenting as Febrile Seizure in an Infant

J Pediatr Hematol Oncol. 2020 Aug;42(6):e511-e512. doi: 10.1097/MPH.0000000000001453.

Abstract

Factor X deficiency is a severe inherited coagulation disorder, which is characterized by severe systemic bleeding manifestations in affected individuals. It is a rare disorder with a frequency of around 1:1,000,000 in the general population. We present the case of an infant with factor X deficiency who presented with complex febrile seizure. Although febrile seizures are very common in children, a closer scrutiny leads to neuroimaging and finding of intracranial bleed. Hematologic and genetic investigations confirmed the diagnosis. A high index of suspicion should be maintained to diagnose uncommon bleeding disorders in children.

Publication types

  • Case Reports

MeSH terms

  • Diagnosis, Differential
  • Factor X Deficiency / diagnosis*
  • Factor X Deficiency / diagnostic imaging
  • Humans
  • Infant
  • Intracranial Hemorrhages / diagnosis*
  • Intracranial Hemorrhages / diagnostic imaging
  • Male
  • Neuroimaging / methods*
  • Prognosis
  • Seizures, Febrile / diagnosis*
  • Seizures, Febrile / diagnostic imaging