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 group is neurofibromatosis type 1 (NF1) which varies in severity but which can affect all physiological systems. Neurofibromas are the characteristic lesions of the condition and not only occur in the neuraxis but may also be found in the oropharnyx and larynx; these may produce difficulties with laryngoscopy and tracheal intubation. Pulmonary pathology includes pulmonary fibrosis and cystic lung disease. The cardiovascular manifestations of NF1 include 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 the aetiology and clinical manifestations of the neurofibromatoses and discusses their relevance to the anaesthetist.