# 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.

## Key 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.