[Purpura fulminans, venous thrombosis and constitutional thrombophilia in an infant]

F Fadil1, F Elfatoiki, K Mortaji

  • 1Service de pédiatrie 3, hôpital d'enfant, CHU Ibn Rochd, Casablanca, Maroc. fz.fadi@gmail.com

Insights

Idiopathic purpura fulminans (PF) and venous thrombosis (VT) in infants are rarely linked to inherited clotting disorders. A case highlights a Factor II mutation as a cause, emphasizing early diagnosis and multidisciplinary care.

Area of Science:

  • Pediatrics
  • Hematology
  • Genetics

Background:

  • Idiopathic purpura fulminans (PF) and venous thrombosis (VT) are rare conditions in infants.
  • Constitutional thrombophilia is seldom identified as a cause in this age group.

Observation:

  • An 18-month-old infant presented with PF and lower limb VT.
  • Laboratory tests revealed disseminated intravascular coagulation (DIVC) with normal protein C, protein S, and antithrombin levels.
  • Genetic testing identified a heterozygous Factor II (G 20210A) mutation.

Findings:

  • The infant's condition was attributed to a heterozygous Factor II (G 20210A) mutation.
  • This genetic finding provides a potential explanation for the co-occurrence of PF and VT in the infant.

Implications:

  • Highlights the importance of genetic testing for thrombophilia in infants with unexplained PF and VT.
  • Underscores the need for a multidisciplinary approach in managing these complex cases.
  • Suggests Factor II mutation as a potential, though rare, underlying cause in pediatric thrombosis and purpura fulminans.

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