AI Article Synopsis
- - Glanzmann thrombasthenia is a rare inherited disorder causing problems with platelet function, leading to issues like bruising and bleeding.
- - A 2-day-old male neonate with extensive bruising was diagnosed with this condition, and additional gene mutations were identified that may increase bleeding risk.
- - The case highlights that serious bleeding might not be the initial symptom in thrombasthenia cases, especially when other clotting risk factors are present.
Article 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.
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