Neurofibromatosis: clinical presentations and anaesthetic implications

The neurofibromatoses are autosomal dominant diseases that have widespread effects on ectodermal and mesodermal tissue. The commonest member of the gr oup is neurofibromatosis type 1 (NF1) which varies in severity but which ca n affect all physiological systems. Neurofibromas are the characteristic le sions of the condition and not only occur in the neuraxis but may also be f ound in the oropharnyx and larynx; these may produce difficulties with lary ngoscopy and tracheal intubation. Pulmonary pathology includes pulmonary fi brosis and cystic lung disease. The cardiovascular manifestations of NF1 in clude hypertension, which may be associated with phaeochromocytoma or renal artery stenosis. Neurofibromas may also affect the gastrointestinal tract and carcinoid tumours may be found in the duodenum. This review documents t he aetiology and clinical manifestations of the neurofibromatoses and discu sses their relevance to the anaesthetist.