Tuberous sclerosis (Bourneville's disease)

Abstract

The authors studied five cases of tuberous sclerosis, three of which were subject of complete anatomicopathological macro and microscopic examination. The cutaneous lesions suggested that the process was essential1y a metabolic disorder due to vascular malformations of the tissue from the affected organs. This assumption was reinforced by microscopic examination of encephalic lesions that showed that the "monstruous cells" are degenerated elements of the three cellular lines generating the nervous system and that the vessels of this tissue are malformed, similarly to what happens in the skin. Finally the study of renal tumors of the disease revealed beyond doubt its malformed vascular origin. With basis in this findings the authors built a new pathogenic conception, explaining the disease and embodying all its manifestations.