[Bernard-Soulier thrombopathy: a diagnostic pitfall].
First described in 1948, Bernard-Soulier syndrome is an uncommon hereditary thrombopathy characterized by abnormal expression of the GPIb-IX-V complex which inhibits platelet migration to the site of endothelial trauma. Our case illustrates the pathophysiological mechanisms involved and points out the similarity with idiopathic thrombopenic purpura.
Chemlal
Kadoudja
K
Service de Médecine Interne A, Hôpital Max-Fourestier, 403, avenue de la République, 92000 Nanterre, France. khadoudja.chemlal@CH-nanterre.fr
Grange
Marie-José
MJ
Huisse
Marie-Geneviève
MG
D001606:Bernard-Soulier Syndrome / Q000097:blood / Q000175:diagnosis* / Q000503:physiopathology; D003937:Diagnosis, Differential; D005260:Female; D005434:Flow Cytometry; D006801:Humans; D008875:Middle Aged; D019038:Platelet Glycoprotein GPIb-IX Complex / Q000032:analysis; D011696:Purpura, Thrombocytopenic / Q000175:diagnosis
D019038:Platelet Glycoprotein GPIb-IX Complex