A Case Report Of Bernard-Soulier Syndrome In Differential Diagnosis Of Immune Thrombocytopenic Purpura

Authors: Wasfi, Lina Ahmed; Issa, Abdul Rahman Hassan; Aljuhani, Shatha Ahmad Awad; Ruaa Omar Nughays; Walaa Mohammed Hafez Hassan; Tyseer Hassan Ahmed Hassan;

doi: 10.5281/zenodo.1173995 , 10.5281/zenodo.1173994

A Case Report Of Bernard-Soulier Syndrome In Differential Diagnosis Of Immune Thrombocytopenic Purpura

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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 Syndrome idiopathic thrombocytopenic purpura thrombocytopenia giant platelets hereditary thrombocytopenia.

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