Clinical work-up for neurofibromatosis type 1 (NF1)

To diagnose neurofibromatosis type 1 (NF1) and to detect its complications: NF1 is the commonest autosomal dominant (1/3000 a 3500 births). Cafe au la it spots, axillary and inguinal freckling, hamartomas of the iris (Lisch no dules) and multiple cutaneous neurofibromas, characterize NF1. NF1 can be a ssociated with optic gliomas, spinal or peripheral nerve neurofibromas, mac rocephaly, cognitive et neurological disorders, une scoliosis and bone abno rmalities. Morbidity and mortality of NF1 are linked to multisystemic compl ications. Diagnosis: In adulthood, diagnosis of NF1 is easy with physical examination : presence of cafe au lait spots, axillary and inguinal frecklings, neurofi bromas. In early childhood, diagnosis can be difficult. Penetrance of the g ene is complete by the age of 5 and the diagnosis is made during the follow -up. Complications: Clinical examination can easily identify complications such as scoliosis, pseudarthrosis, hypertension linked to renal artery stenosis or phaeochromocytoma or learning disabilities. Conclusion: Annual clinical examination is sufficient for the follow-up of NF1 patients. Screening investigations are not useful because of rare compl ications, but symptomatic.