Tuberous sclerosis: clinical evaluation in a family and implications for genetic counseling

Tuberous sclerosis is an autosomal-dominant neurocutaneous disease, characterized by hamartomas in various organs. In a nuclear family, three persons in two generations were diagnosed as having tuberous sclerosis, with multiple hypomelanotic dermal patches and epilepsy. Computerized tomography showed subependymal calcifications and ophthalmological investigations indicated phakomas as retinal involvement in all of them. Two distinct chromosomal loci are linked to tuberous sclerosis complex, and carrier detection and prenatal diagnosis approaches are being developed. Genetic counseling is very important in this devastating disease with high penetrance, particularly because of its broad spectrum and variability of manifestations.