Published January 1, 2018
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A CASE REPORT OF BERNARD-SOULIER SYNDROME IN DIFFERENTIAL DIAGNOSIS OF IMMUNE THROMBOCYTOPENIC PURPURA
Description
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.
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