RESULTS OF THE COLLABORATIVE STUDY ON TUBEROUS SCLEROSIS COMPLEX (TSC) IN ITALY

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 NEUROFIBROMATOSIS TYPE-1 (NF1) IN ITALY

The results of a collaborative Italian study on Neurofibromatosis type 1 (NF1) among the Pediatric Institute of Siena and 63 Italian Pediatric Institutions are reported. Data regarding 375 NF1 cases have been obtained from the Italian Registry of Neurocutaneous Syndromes established in 1987. The study allowed us to obtain data about the frequency of the main findings of the disease. Some of these findings, such as macrocephaly and multiple areas of increased signal intensity on T2-weighted images at brain MRI (Unidentified Bright Objects or UBOs) are not included in the diagnostic criteria; however they appear to be important from the diagnostic point of view because of their high incidence. UBOs have been observed in 56% of cases in which MRI was performed and, since they did not show an invasive nature, it is important that these images are well known in order to avoid a misdiagnosis of cerebral tumors. DNA linkage analysis, using probes linked to NF1 locus in 9 families with 2 or 3 generations of NF1-patients, indicated that 6 of these families resulted informative and a prenatal diagnosis would be possible whenever requested. The same molecular study allowed us to exclude the disease in 3 at risk individuals coming from 3 different families. Two recent international Seminars and the istitution of the Italian Association of Neuro Ectodermosis (A.I.N.E.) have greatly contribute to improve the knowledge about the genetic and clinic implications of the disease among physicians and general population. We think useful to obtain a widespread collaboration among all physicians who take care of NFI-patients and to operate in order to obtain from the politic authorities an adequate assistence to these patients and their families