Megathrombocytopenia associated with glomerulonephritis, deafness and aortic cystic medianecrosis.

Macrothrombocytopenia associated with glomerulonephritis and deafness has only been reported in a few patients since it was first described in 1972. We present a patient with macrothrombocytopenia, glomerulonephritis, progressive uraemia and progressive sensorineural deafness associated with cystic medianecrosis of the ascending aorta and malformation of the aortic valves. The patient had consistently low platelet counts but no clinical signs of a defect haemostasis. The giant platelets were characterized by their size, averaging 11 μm in diameter, elaborate maze-like membrane formations, abundance of microtubules, and the total absence of very dense granules.