Delta Storage Pool Deficiency: A Pediatric Case Report and Review of the Literature
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Published on: April 7, 2023
Jhoan Gonzalez1, Juliana Salazar2, Alejandra Calderon3
1Hematology and Oncology, Universidad Nacional de Colombia, Bogotá, COL.
Insights
This case study highlights a rare platelet storage deficiency causing bleeding in a child. Diagnosis involved electron microscopy revealing abnormal platelet granules, managed with medication.
Area of Science:
- Hematology
- Pediatric Medicine
- Genetics
Background:
- Platelet storage deficiencies are a group of rare bleeding disorders.
- These conditions result from abnormalities in platelet granule number or content.
- They present with variable clinical severity.
Observation:
- A 10-year-old patient presented with menorrhagia and mucocutaneous pallor.
- Initial tests excluded common hemostasis disorders.
- Electron microscopy of platelets showed reduced dense granules and normal alpha granules.
Findings:
- The patient was diagnosed with a platelet storage deficiency.
- The condition was characterized by a specific pattern of granule abnormality.
- Bleeding episodes were successfully managed with tranexamic acid, iron, and oral contraceptives.
Implications:
- This case underscores the importance of considering rare platelet disorders in pediatric bleeding.
- Electron microscopy is crucial for diagnosing platelet granule defects.
- Multimodal treatment strategies can effectively control symptoms in affected children.
Abstract:
Platelet storage deficiencies are a heterogeneous group of bleeding disorders of variable severity caused by decreased number or content of platelet granules. We present the case of a 10-year-old patient with no personal history of previous bleeding who was admitted to the emergency department due to menorrhagia and mucocutaneous pallor. Common disorders of primary and secondary hemostasis were ruled out. Subsequently, a study of electron microscopy of platelets was performed, which reported the presence of alpha granules with a decreased number of dense granules. Currently, the patient receives treatment with tranexamic acid during menstrual periods, supplementation with ferrous sulfate, and oral contraceptives, achieving control of bleeding episodes.
