ABSTRACT
Neurofibromatosis 1 is one of the most common genetic disorders in man. Although almost every body system can be involved, it most frequently affects the skin, the nervous system and the skeleton. Major disease features are café-au-lait spots, axillary/inguinal freckling, neurofibromas and Lisch' nodules. The complications are quite variable, making it impossible to predict the clinical course in an individual patient. To summarize the problems associated with this disease we have quantified manifestations and complications in a group of 38 children with neurofibromatosis 1 who were seen at the University Hospital in Trondheim, Norway between 1987 and 1997. The results are based upon the medical records as well as clinical examination. A wide variety of initial symptoms was recorded, but the majority of the children had café-au-lait spots and axillary/inguinal freckling, two of the seven disease features included in the diagnostic criteria given by the National Institutes of Health. The most frequent complications were tumours, with highest incidence of optic pathway gliomas, disturbances of growth and puberty, delayed psychomotor development and learning disabilities. The risk of complications necessitates regular follow-up in a paediatric department. An annual assessment by an ophthalmologist is also recommended, as well as Visual Evoked Potentials/MRI as screening for optic glioma in children under ten years of age.
