A bleeding enigma: life-threatening hematemesis in a child with Glanzmann thrombasthenia: a case report

Glanzmann thrombasthenia is a rare autosomal recessive platelet function disorder characterized by mucocutaneous bleeding, including epistaxis, gingival bleeding, gastrointestinal hemorrhage, and other severe bleeding manifestations.We report a case of a child who presented with life-threatening hematemesis, shock requiring inotropic support, and the need for ventilatory support.In the absence of common causes of hematemesis, platelet aggregation studies and flow cytometry were performed, which confirmed the diagnosis of Glanzmann thrombasthenia.The rarity of this condition, coupled with limited awareness among general pediatricians, led to an initial delay in diagnosis.This case highlights the diagnostic challenges and management considerations associated with this rare bleeding disorder.Furthermore, this case highlights the importance of family screening despite a negative family history and genetic testing, as it is essential not only for guiding treatment but also for prognostication.