Glanzmann Thrombasthenia in a Newborn with Heterozygous Factor V Leiden and Heterozygous MTHFR C677T Gene Mutations.

ABSTRACT

INTRODUCTION: Glanzmann thrombasthenia is a rare congenital platelet dysfunction. CASE CHARACTERISTICS A 2-day-old male neonate delivered at 35 weeks' gestation was referred with extensive bruising and jaundice. His elder sibling had Glanzmann thrombasthenia, and his mother had thrombophilic risk factors. Flow cytometric analysis revealed absent CD41/CD61. A molecular thrombophilia panel revealed the presence of heterozygous factor V Leiden G1691A and methylenetetrahydrofolate reductase C677T gene mutations. OUTCOME: General precautions to avoid injuries and spontaneous bleeding were advised. MESSAGE Life-threatening bleeding may not be the first finding in cases of thrombasthenia accompanied by thrombophilic risk factors.