Overexpressed platelet integrin alpha(IIb)beta (3) in a Fechtner syndrome patient uneventfully undergoing adenotomy.

摘要

Clinical features of Fechtner syndrome, a rare inherited disorder , are among others, hearing loss, nephritis and macrothrombocytopenia. Bleeding symptoms in these patients are usually mild, but cases of fatal hemorrhage in macrothrombocytopenic disorders have been described. Platelet aggregometry varies from normal to clearly impaired [2-6]. The major platelet membrane proteins, integrin alpha_(IIb)beta_3 and glycoprotein Ib, were found to be normal or slightly increased [6, 7]. Platelet transfusion or the administration of DDAVP is usually considered for the perioperative management of these patients [6, 8]. We report the case of a 10-year-old boy with Fechtner syndrome, who was scheduled to undergo adenotomy. Macrothrombocytopenia was already diagnosed in the neonatal period when the patient showed a few petechiae. Furthermore, blood smears showed leukocyte inclusion bodies. The patient was followed-up, and at the age of 4 years, proteinuria and a moderate sensorineural loss of hearing were found. The diagnosis of Fechtner syndrome was made due to the characteristic signs of macrothrombo- cytopenia, leukocyte inclusion bodies, nephritis and sensorineural loss of hearing.