A patient with features of both Neurofibromatosis I and Neurofibromatosis II on MR imaging

Abstract

Neurofibromatosis (NF) type II is a neurocutaneous disease with an autosomal dominant pattern of inheritance with its gene locus on chromosome 22q 12 with bilateral acoustic schwannoma being the hallmark of this disease. NF II is considered central neurofibromatosis while NF I is the peripheral neurofibromatosis. This case report presents a case of a 15 year old female who came with  complaint of bilateral tinnitus, hearing loss, low grade fever and weakness in bilateral  lower limbs , which on imaging work up showed bilateral acoustic schwannoma, meningioma and  small cord ependymoma giving  the classical features of neurofibromatosis II along with unique features of cafe au lait spots,  cutaneous neurofibromas, plexiform neurofibromas, and focus of altered signal intensity in white matter tracts of left frontal lobe which are unique to NF1. To our knowledge no such previous case report with overlapping features of both NF-1 and NF-2 has been described before.