A Bleeding Puzzle: Unveiling Glanzmann's Thrombasthenia In Pediatric Patients With Normal Coagulation Profiles – A Case Series

Background: Glanzmann thrombasthenia (GT) is a rare inherited platelet function disorder characterized by mucocutaneous bleeding despite normal platelet counts and coagulation profiles. Early diagnosis remains challenging due to its rarity and often normal initial investigations. Case Series Summary: We report three pediatric cases of GT with varied presentations—recurrent gum bleeding, post-circumcision hemorrhage, and menorrhagia. All patients had prolonged bleeding time with normal platelet counts and coagulation parameters. Platelet aggregation studies confirmed absent aggregation to ADP, collagen, and epinephrine, with preserved response to ristocetin, establishing the diagnosis. Methods: This is a retrospective observational case series conducted at a tertiary care center over two years. Two patients were evaluated during inpatient admission, and one was assessed in the outpatient department. Clinical details and investigations were retrieved from hospital records. Conclusion: This case series highlights the clinical variability of GT and emphasizes the importance of considering platelet function disorders in children with unexplained mucocutaneous bleeding. Early recognition and appropriate diagnostic workup are crucial for effective management and improved outcomes.

Publication Details

Journal
Zenodo (CERN European Organization for Nuclear Research)
Published
2025-09-18
DOI
https://doi.org/10.5281/zenodo.17355259
Primary Topic
Historical and Cultural Archaeology Studies
Type
article
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article

A Bleeding Puzzle: Unveiling Glanzmann's Thrombasthenia In Pediatric Patients With Normal Coagulation Profiles – A Case Series

Zenodo (CERN European Organization for Nuclear Research)
Historical and Cultural Archaeology Studies
article

A Bleeding Puzzle: Unveiling Glanzmann's Thrombasthenia In Pediatric Patients With Normal Coagulation Profiles – A Case Series

article en

Abstract

Background: Glanzmann thrombasthenia (GT) is a rare inherited platelet function disorder characterized by mucocutaneous bleeding despite normal platelet counts and coagulation profiles. Early diagnosis remains challenging due to its rarity and often normal initial investigations. Case Series Summary: We report three pediatric cases of GT with varied presentations—recurrent gum bleeding, post-circumcision hemorrhage, and menorrhagia. All patients had prolonged bleeding time with normal platelet counts and coagulation parameters. Platelet aggregation studies confirmed absent aggregation to ADP, collagen, and epinephrine, with preserved response to ristocetin, establishing the diagnosis. Methods: This is a retrospective observational case series conducted at a tertiary care center over two years. Two patients were evaluated during inpatient admission, and one was assessed in the outpatient department. Clinical details and investigations were retrieved from hospital records. Conclusion: This case series highlights the clinical variability of GT and emphasizes the importance of considering platelet function disorders in children with unexplained mucocutaneous bleeding. Early recognition and appropriate diagnostic workup are crucial for effective management and improved outcomes.

Zenodo (CERN European Organization for Nuclear Research)
Openalex Percentile: Top 36%
Historical and Cultural Archaeology Studies
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