FECHTNER SYNDROME - REPORT OF A 3RD FAMILY AND LITERATURE-REVIEW

We observed macrothrombocytopenia with leucocyte inclusions in 10 out of 14 members of a four-generation family. Morphological features of l eucocyte inclusions and the presence of Alport-related symptoms suppor ted the diagnosis of Fechtner syndrome. Compared to the two previously reported Fechtner families, our kindred showed reduced expression of Alport manifestations. These, in members aged less than 50. were repre sented by clinically silent ocular abnormalities. Due to the frequent non-recognition of macrothrombocytopenia, Fechtner variants with low p enetrance might be difficult to diagnose. In addition, Sebastian syndr ome, recently distinguished from Fechtner disease in lacking Alport ma nifestations, might be one of these variants.