NEUROFIBROMATOSIS TYPE-1 - REVIEW OF THE 1ST 200 PATIENTS IN AN AUSTRALIAN CLINIC

Neurofibromatosis type 1 is a common multisystem disorder, best manage d in a multidisciplinary clinic. In 1991, the first Australian neurofi bromatosis clinic was established at the Children's Hospital, Camperdo wn, and the clinical characteristics of the first 150 families are rev iewed. Two hundred individuals were assessed; there was an equal sex d istribution, and 55% of cases were sporadic. Advanced paternal age app eared to predispose to new mutations in the neurofibromatosis gene. Ca fe-au-lait spots and axillary freckling were important to the diagnosi s of neurofibromatosis type 1 during childhood, and neurofibromas and Lisch nodules, although often not appearing until after puberty, were present in almost all patients over 30 years of age. Short stature (27 %), macrocephaly (43%), scoliosis (20.5%), and learning disabilities ( 45%) were common associated features. The prevalence of disease compli cations was similar to the major US and European studies.