期刊
BLOOD COAGULATION & FIBRINOLYSIS
卷 23, 期 4, 页码 335-337出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/MBC.0b013e32835187e2
关键词
Bernard-Soulier syndrome; distant parental consanguinity; giant platelets; glycoprotein Ib beta mutation; novel mutation
类别
Bernard-Soulier syndrome (BSS) is a rare autosomal recessive disorder characterized by a prolonged skin-bleeding time and thrombocytopenia with giant platelets. The hallmark of BSS is an abnormal platelet attachment to the vessel wall due to reduced or abnormal glycoprotein Ib/IX/V complex. We present a case of BSS in a 14-month-old boy caused by a novel genetic mutation. The patient has the typical clinical findings of BSS, but he was misdiagnosed for a long period. Evaluation of the peripheral blood smear revealed giant platelets and genetic testing confirmed the diagnosis of BSS. The child was found to be homozygous for a nonsense mutation (c.423C>A) in the glycoprotein Ib beta (GPIb beta) gene. Knowing that we are dealing with a very rare syndrome, the detected mutation in our patient was homozygous. Although the parents were nonconsanguineous, we believe that they were related in a distant parental connection, which the parents and their family were not aware of. Blood Coagul Fibrinolysis 23:335-337 (C) 2012 Wolters Kluwer Health | Lippincott Williams & Wilkins.
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