Diagnosis, Management and New Therapeutic Options in Childhood Neurofibromatosis Type 2 and Related Forms

Neurofibromatosis type 2 (NF2; MIM # 101000) is an autosomal dominant disorder characterized by the development of vestibular schwannomas (VSs), schwannomas of other cranial, spinal and cutaneous nerves, cranial and spinal meningiomas and/or other central nervous system (CNS) tumors (e.g., ependymomas, astrocytomas). Additional clinical features involve eye (e.g., early onset cataracts, optic nerve sheath meningiomas, retinal and/or pigment epithelial hamartomas and epithelial retinal membranes) and skin (e.g., flat dermal NF2-plaques, and/or spherical subcutaneous nodular schwannomas and few, atypical café-au-lait spots).

Source: Seminars in Pediatric Neurology - October 28, 2015 Category: Neurology Authors: M. Ruggieri, A.D. Praticò, D.G.R. Evans Source Type: research