Glanzmann thrombasthenia is a rare congenital platelet disorder affecting primary hemostasis, due to defective platelet aggregation and leading to mucocutaneous bleeding that can vary in severity. We report the case of a 14-month-old infant born to a first-degree consanguineous marriage, with a notable family history of unexplained severe bleeding in a maternal cousin. The patient was referred to our department for evaluation of mucocutaneous bleeding, with recurrent gingival hemorrhage and widespread ecchymoses. Initial hemostatic work-up was within normal ranges. Given the persistence of bleeding syndrome, platelet function analysis was performed, which demonstrated an aggregation defect consistent with Glanzmann thrombasthenia. This case emphasizes the diagnostic challenge of Glanzmann thrombasthenia in which routine coagulation studies are normal, and the need to maintain a high index of suspicion based on bleeding history, especially in consanguineous families. An early diagnosis is indispensable for the adequate treatment of the patient and to avoid life-threatening hemorrhagic complications.
Chemlal et al. (Thu,) studied this question.