[Tuberous sclerosis, changes in the diagnostic and therapeutic approach]

In the last 15 years the diagnostic possibilities in tuberous sclerosis have considerably improved. Some new signs of this disorder have recently been described. The meaning of other signs became more evident. Investigation of large groups of patients made it possible to indicate which clinical features of tuberous sclerosis may be classified according to their diagnostic importance as pathognomonic or definitively diagnostic or as presumptive or provisionally diagnostic. It is sometimes difficult to determine the significance of a single nonspecific lesion. It is very important to know the meaning of the signs for those parents or more distant relatives who ask for genetic counseling. As long as the gene defect in tuberous sclerosis had not been determined it will remain possible that formes frustes will not be detected despite the most elaborate examination. Connected with the improvement of the diagnosis by imaging technics of especially the cerebral and renal features, the therapeutic possibilities have been changed. On one side this concerns neurosurgical removing of giant cell astrocytoma situated near the foramen of Monro and of cortical or subcortical tubers that cause therapy resistant partial epilepsy. On the other side it concerns embolisation of symptomatic renal angiomyolipomas or renal transplantation in the case of renal insufficiency due to cysts with or without angiomyolipomas.