NEUROFIBROMATOSIS TYPE-1 IN CHILDHOOD - EVALUATION OF CLINICAL AND EPIDEMIOLOGIC FEATURES AS PREDICTIVE FACTORS FOR SEVERITY

The authors evaluated clinical and epidemiologic features of neurofibr omatosis type 1 (NF-1) as predictive factors of severity of the diseas e. The data were retrieved from medical records of 110 children with N F-1 followed up during the period 1974-1991 (mean duration of follow-u p 6.7 years). Presence of macrocephaly correlated with higher-grade of severity of the disease P=0.018). Familial NF-1 was more common in pa tients with grade 4 disease than in children with grade 1 severity (P< 0.05; odds ratio 2.9, confidence limits 0.85-10.5). The specificity of positive family history and macrocephaly as predictive factors for-th e grade 4 disease was 90% and 89%, respectively, and sensitivity was 7 1% and 36%, correspondingly. Positive predictive value of familial NF- 1 and macrocephaly was 24% and 31%, respectively In conclusion, althou gh patients with family history of NF-1 and with macrocephaly tend to have more severe disease, the clinical utility of these features as pr edictive factors for severity is limited.