Neonatal Glanzmann's Thrombasthenia Presenting as Refractory Post-circumcision Hemorrhage in a Region of High Consanguinity: A Case Report

TL;DR

A newborn boy with Glanzmann's thrombasthenia experienced severe bleeding after circumcision, highlighting the need for better screening in high-consanguinity regions.

Contribution

This case emphasizes the importance of preoperative bleeding history and flow cytometry in diagnosing GT in neonates.

Findings

Refractory post-circumcision hemorrhage led to the diagnosis of Glanzmann's thrombasthenia in a neonate.

Flow cytometry revealed significantly reduced CD41 and CD61 expression, confirming the diagnosis.

The case underscores the need for systematic preoperative screening in regions with high consanguinity.

Abstract

Glanzmann's thrombasthenia (GT) is a rare autosomal recessive disorder characterized by deficient or dysfunctional platelet glycoprotein IIb/IIIa (αIIbβ3 integrin), the principal fibrinogen receptor. In neonates, GT is often clinically silent until unmasked by a hemostatic challenge such as surgery or trauma. Standard coagulation screens are normal, making timely diagnosis difficult and potentially leading to life-threatening complications. We report the case of a seven-day-old Saudi boy from Najran who developed severe, refractory hemorrhage following circumcision. Initial surgical hemostasis failed despite normal platelet count and coagulation studies. Flow cytometry revealed a diagnostic immunophenotype for GT with discordant glycoprotein expression: CD41 (GPIIb) at 29% and CD61 (GPIIIa) at 7%. A retrospective review identified significant risk factors: first-degree parental consanguinity and a family history of a bleeding disorder, which had not been assessed pre-procedure. The infant was stabilized with packed red blood cells, fresh frozen plasma, and recombinant activated factor VIIa (rFVIIa). At a two-month follow-up, he remained well with only minor, self-limiting mucocutaneous bleeding. In conclusion, this case demonstrates that refractory post-procedural bleeding in neonates, despite normal routine labs, necessitates prompt investigation for a qualitative platelet disorder such as GT or other inherited thrombocytopathies. In regions with high consanguinity, where local registries report a markedly elevated prevalence, systematic preoperative screening for family bleeding history is a critical preventive measure. Flow cytometry provides a rapid preliminary diagnosis to guide acute management, though definitive GT subtyping requires platelet function studies and genetic confirmation.

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