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.
RESULTS OF THE COLLABORATIVE STUDY ON NEUROFIBROMATOSIS TYPE-1 (NF1) IN ITALY
NURCHI, ANNA MARIA;
1993-01-01
Abstract
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.
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