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A Behavioral Screen for Heat-Induced Seizures in Mouse Models of Epilepsy
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Severe Factor X Deficiency Presenting as Febrile Seizure in an Infant

Meenal Garg1, Mohammed Ramzan2, Anand Kumawat3

  • 1Department of Pediatric Neurology, Neoclinic Children Hospital.

Journal of Pediatric Hematology/Oncology
|March 15, 2019
PubMed

Insights

Factor X deficiency, a rare inherited bleeding disorder, can cause severe bleeding. This case highlights its presentation as intracranial bleeding in an infant with febrile seizures, emphasizing the need for early diagnosis.

Area of Science:

  • Hematology
  • Pediatrics
  • Genetics

Background:

  • Factor X deficiency is a rare, severe inherited coagulation disorder affecting approximately 1 in 1,000,000 individuals.
  • Characterized by significant systemic bleeding manifestations, it requires careful diagnostic consideration.

Observation:

  • A case report details an infant presenting with complex febrile seizures.
  • Neuroimaging revealed an unexpected intracranial bleed, prompting further investigation.

Findings:

  • Hematologic and genetic analyses confirmed the infant had Factor X deficiency.
  • This diagnosis underscores the potential for severe bleeding complications in seemingly common pediatric presentations.

Implications:

  • A high index of suspicion is crucial for diagnosing uncommon bleeding disorders in pediatric patients.
  • Early identification and management of Factor X deficiency can prevent severe hemorrhagic complications.
  • This case emphasizes the importance of thorough investigation beyond initial symptoms in pediatric febrile illnesses.

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