Bernard-Soulier syndrome

Summary of Bernard-Soulier syndrome
Bernard–Soulier syndrome is a rare autosomal recessive coagulopathy that causes a deficiency of glycoprotein Ib (GpIb), the receptor for von Willebrand factor, an important glycoprotein involved in platelet plug formation. Bernard–Soulier syndrome is characterized by prolonged bleeding time, thrombocytopenia, increased megakaryocytes, and enlarged platelets.

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Pathology

Hematological system

Anemias
Heme synthesis disorders
Coagulation disorders
Platelet disorders
Mixed platelet and coagulation disorders
Thrombosis syndromes (hypercoagulability)
Lymphomas
Leukemias
Leukemoid reaction
Dysplastic and proliferative disorders
Plasma cell dyscrasias
Hematological system pathology review

Assessments
Bernard-Soulier syndrome

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High Yield Notes
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Flashcards

Bernard-Soulier syndrome

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Preview

Platelet count either remains normal or (increases/decreases) in Bernard-Soulier syndrome.

Questions

USMLE® Step 1 style questions USMLE

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USMLE® Step 2 style questions USMLE

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A 14-year-old girl comes to the pediatrician's office because of recurrent nose bleeding. Her medical history is relevant for heavy menstrual bleeding and easy bruising. Upon further interrogation, the patient mentions that she always bleeds when she brushes her teeth. Physical exam shows purple discolored spots on her right leg that do not blanch on applying pressure and petechial rash over her face. Her temperature is 36.8°C (98.2°F), pulse is 106/min, respirations are 16/min, blood pressure is 90/70 mmHg. Laboratory studies show moderate thrombocytopenia and prolonged bleeding time.  A peripheral blood smear is obtained and shows the presence of multiple large platelets.

 

Which of the following abnormalities is the most likely cause of these findings?

External References