A Case Of Multiple CNS Tumour

Abstract

Phakomatosis is a group of disorder comprising of congenital hamartomatous malformations affecting the  Central nervous system, skin and eye. Neurofibromatosis was described by Von Recklinghausen in 1882.Neurofibromatosis are of two types NF I and NF II, both are autosomal   dominantly inherited condition. NF I is more common seen in 1 in 5000 whereas type NFII is found in 1 in 50,000.    Neurofibromatosis consists of at least two dominantly    inherited disordersneurofibromatosis 1 (NF1) and     neurofibromatosis 2 (NF2). The criteria for their diagnosis have been clearly established.1 Both are known to have    multi-system involvement. NF1 is associated with a variety of growth, puberty, and other endocrinologic disor-ders.2 NF2 is essentially a central nervous system disease. However,  peripheral nerve tumors, dermatologic features, and   ophthalmologic features may be present. Most of these           patients present with hearing loss that may be accompanied or preceded by tinnitus. Ophthalmologic features are often asymptomatic.