A 19-year-old woman presented to clinic for evaluation of thrombocytopenia incidentally noted on her annual physical. She had normal menstrual periods and denies any personal or family history of bleeding or bruising. While she had no other significant medical history, her family history revealed that her father needed hearing aids at a young age. Laboratory studies showed a white blood cell count of 7.3 × 109/L with a normal differential, hemoglobin of 12.9 g/dL, and platelet count of 81 × 109/L. Platelet aggregometry showed normal aggregation to arachidonic acid, adenosine diphosphate (ADP), collagen, epinephrine, and ristocetin. Her peripheral smear is shown in the Figure.

Figure

Peripheral blood smear.

Figure

Peripheral blood smear.

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What is the diagnosis?

  • Acute immune thrombocytopenia purpura

  • Bernard-Soulier syndrome

  • MYH9-related disorder

  • Chediak-Higashi syndrome

  • Gray platelet syndrome

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Dr. Chien, Dr. Lo, and Dr. Glader indicated no relevant conflicts of interest.