دراسة سريرية لمرضى الورام الليفي العصبي النمط I واختلاطاته عند الاطفال في مستشفى الاطفال – جامعة دمشق

Background& Objective: clinical study of patients with Neurofibromatosis I (NFI) in children hospital – Damascus University Materials & Methods: All cases of Neurofibromatosis type I in children less than 13 years of age were identified from the records in the Department of children, from 2000-2010 They were diagnosed according to a clinical symptoms (café au lait) then complete the diagnosis with appropriate diagnostic tools. Results: fifty four (54) children aged thirteen years or less were identified (27male and 27 female). 11of 54 (20.37%) had an affected first degree relative. Family history of NFI positive only in 37%. an‎d 34 (62.7%) had no family history. age ranges between 5 months and 144 months ,median age (37.1months). 94.4% (51 of 54) had more than six café au lait patches ,55.5% (30 of 54 ) had axillary freckling , 25.9% (14 of %) had Lisch nodules, neck neurofibromatosis were present in 24% (13 of 54),trunk neurofibromatosis were present in25.9% (14 of 54 ) , and extremity neurofibromatosis in 3.7% (2 of 54) ..Skeletal deformities were seen in 20.3 % (11of 54), fractures in3.7% (2of 54), skull enlargement was seen in 14.8% (8 of 54). Central nervous tumors (CNT) were reported in 14.8% (8 of 54), optic glioma in 2.59% (2 of 54). Neurological disturbances (cognitive, convulsion, mental retardation) were seen in (16.6%) 9 of 54. Conclusion: Neurofibromatosis I is a multisystem disorder associated with increased risk of malignancies and other systems disturbances .it can be diagnosed as a very young age, and clinical follow up is advised.