The results of an Italian collaborative study on Tuberous Sclerosis Complex (TSC) are reported. 252 patients with TSC are the object of this study: 192 cases evaluated in 36 Italian Paediatric Institutions and 60 cases observed at the Paediatric Institute of the University of Siena. The numerosity of our series is not sufficient to evaluate the incidence and prevalence of the disease in Italy. However the collaborative study allowed us to obtain reliable information about the type and frequency of the clinical and instrumental findings observed in TSC. In particular our data indicated that the CNS was very frequently involved. Neuroimaging techniques (brain CT and MRI) indicated the presence of cerebral abnormalities in 96 per cent of the cases. High incidence of mental retardation and of drug-resistant seizures was also observed. It is possible that a bins exists due to the selection of the more severely affected cases in our hospital series. Since molecular analysis cannot be at present utilized for diagnostic purpouse, the correct application of the diagnostic criteria is the only reliable method to identify the index case and to offer the genetic counselling to the family. For this reason we think that improving knowledge of physicians and lay people about the polymorphism of the disease is an important tool for prevention. The Italian Association for Neuro-Ectodermosis can contribute to sensitize the politicians and health authorities and offer the patients and their families an adequate assistance, and psychological and material support.
RESULTS OF THE COLLABORATIVE STUDY ON TUBEROUS SCLEROSIS COMPLEX (TSC) IN ITALY
NURCHI, ANNA MARIA;
1994-01-01
Abstract
The results of an Italian collaborative study on Tuberous Sclerosis Complex (TSC) are reported. 252 patients with TSC are the object of this study: 192 cases evaluated in 36 Italian Paediatric Institutions and 60 cases observed at the Paediatric Institute of the University of Siena. The numerosity of our series is not sufficient to evaluate the incidence and prevalence of the disease in Italy. However the collaborative study allowed us to obtain reliable information about the type and frequency of the clinical and instrumental findings observed in TSC. In particular our data indicated that the CNS was very frequently involved. Neuroimaging techniques (brain CT and MRI) indicated the presence of cerebral abnormalities in 96 per cent of the cases. High incidence of mental retardation and of drug-resistant seizures was also observed. It is possible that a bins exists due to the selection of the more severely affected cases in our hospital series. Since molecular analysis cannot be at present utilized for diagnostic purpouse, the correct application of the diagnostic criteria is the only reliable method to identify the index case and to offer the genetic counselling to the family. For this reason we think that improving knowledge of physicians and lay people about the polymorphism of the disease is an important tool for prevention. The Italian Association for Neuro-Ectodermosis can contribute to sensitize the politicians and health authorities and offer the patients and their families an adequate assistance, and psychological and material support.
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