Fechtner syndrome. A rare differential diagnosis of Alport's syndrome

In this article, we report on a family in which five examined members showe d clinical signs of Fechtner syndrome, a condition which consists of hearin g loss (49%), macrothrombocytopenia (100%),leukocyte inclusion bodies (100% ), eye anomalies (54.3%), and nephritis (38.7%). Hearing loss in Fechtner syndrome appears to be sensorineural with the high er frequencies primarily affected. One aim of the present report was to wor k out the clinical appearance of hearing loss compared to hearing loss in A lport's syndrome. The most striking difference between hearing loss in Fech tner syndrome and that in Alport's syndrome was that the vast majority of h earing disorders in the latter occur in male patients, which is not the cas e in Fechtner syndrome. Hearing loss in Fechtner syndrome develops from the second decade of life and progresses slowly with several episodes of sudde n deafness.