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

Housam Almadni; Housam Almadni, Basel Dahlawi, Lujain Faisal Aletani, Weam Ahmed Murad, Dina Mohamed Hossameldin Ahmed, Ahmad Talal Alharbi, Abdulrahman Mohammed Alharbi, Ahmed Mashhour Al ghamdi, Ibrahem Hamad Alwas

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

Authors:Housam Almadni, Basel Dahlawi, Lujain Faisal Aletani, Weam Ahmed Murad, Dina Mohamed Hossameldin Ahmed, Ahmad Talal Alharbi, Abdulrahman Mohammed Alharbi, Ahmed Mashhour Al ghamdi, Ibrahem Hamad Alwas
Int J Biol Med Res. 2017; 8(1): 5805-5819 | PDF File

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.