Imaging of Intracranial Abnormalities in Neurofibromatosis Types 1 and 2

摘要: The neurofibromatoses form the largest group of neurocutaneous disorders. These are autosomal dominant gene disorders characterised by a propensity to dysplasia or neoplasia central and peripheral nervous system, skin eyes. They were first recognised as pathologic entity in nineteenth century although case reports patients with illnesses very much like neurofibromatosis existed literature from early 13th (Mulvihill et al. 1988). Considerable confusion exists between two main types multitude terms has been used describe them. A National Institute Health consensus development conference enumerated clinical diagnostic criteria for each forms (Tables 18.1, 18.2) introduced now widely accepted nomenclature 1 (NF1) 2 (NF2) (National Of Consensus Development Conference 1987). recent identification NF1 product neurofibromin 1990 1991 respectively NF2 merlin schwannomin 1993 (Martin 1990; Rouleau 1993; Mc Collin 1993) have confirmed separate nature these disease processes enabled accurate distinctions be made them (Gutmann 1997). In this chapter we will review pathological neuroimaging findings