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A case report of bernard-soulier syndrome in differential diagnosis of immune thrombocytopenic purpura

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Bernard-Soulier Syndrome (BSS)is a rare hereditary disorder.Platelets in patients with BSS are unable to adhere, leading to an increased bleeding tendency. BSS cases are often misdiagnosed as idiopathic thrombocytopenic purpura… Click to show full abstract

Bernard-Soulier Syndrome (BSS)is a rare hereditary disorder.Platelets in patients with BSS are unable to adhere, leading to an increased bleeding tendency. BSS cases are often misdiagnosed as idiopathic thrombocytopenic purpura (ITP). We report here a seven years old girl diagnosed as Bernard-Soulier syndrome with homozygous deletion of 39 nucleotides in the exon 2 of GP1BA. Bernard–Soulier syndrome should be considered before the patient is diagnosed with immune thrombocytopenia.

Keywords: bernard soulier; soulier syndrome; thrombocytopenic purpura; case report

Journal Title: International Journal of Approximate Reasoning
Year Published: 2017

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