Neurofibromatosis: clinical presentations and anaesthetic implications

Abstract

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.

Neurofibroma of Base Tongue in a Young Boy

“…Upfront precautionary tracheostomy in large lesions at the base of tongue region is advisable. The extreme vascularity with poor cleavage plane of the lesion and a possibility of an aberrant vessel in the neck should be kept in mind while attempting excision [5,7,8,10]. The surgical excision can be assisted with laser, electrocautery, harmonic scalpel or coblation depending on the surgeon`s preference.…”

“…The most common sites in Head and Neck are temple, back of the neck and tongue. Oral manifestation are described in only 4-7% of patient, and tongue is the most common site [2,4,5]. Approximately 5-10% of Plexiform neurofibroma undergo malignant transformation and their rate of growth is inversely proportional to age.…”

“…Approximately 5-10% of Plexiform neurofibroma undergo malignant transformation and their rate of growth is inversely proportional to age. The growth of Plexiform Neurofibroma is usually ill-defined, and there is a risk of recurrence [3,5,[6][7][8][9]. Here, we present a case of an isolated plexiform neurofibroma of the base of tongue in a young male, initially managed as haemangioma.…”

Two-Stage Surgery for a Large Cervical Dumbbell Tumour in Neurofibromatosis 1: A Case Report

“…Two distinct forms have been recognized based on clinical and genetic criteria. Neurofibromatosis 1 (NF-1; von Recklinghausen's disease; peripheral type) accounts for 85% of all neurofibromatosis patients and very commonly involves the musculoskeletal system 1 . Unlike NF-1, NF-2 (central type) rarely includes orthopaedic complications.…”

“…The term "dumbbell tumour" describes spinal tumours that acquire an hourglass shape in the course of growth, as anatomic barriers such as the dura mater, nerve root foramen, or bony elements are encountered 1 . Resection raises several problems, including the risk of general anaesthesia, preservation of the spinal cord and/ or nerve root, control of the vertebral artery, and maintenance of spinal motion and stability 1,3 . Here, we present the case of a 14-year-old child with a large dumbbell neurofibroma of the cervical region and the two-stage tumour resection that was successfully accomplished.…”