NF2 with NF1 Features a Unique Overlap

We describe a case of a 24 year old female who came with complaint of bilateral tinnitus, profound hearing loss, and weakness in both lower limbs which on imaging work up showed unilateral acoustic schwannoma, and spinal extramedullary intradural lesions at D8-D9 level giving the classical features of neurofibromatosis II along with cafe au lait spots, axillary freckling, cutaneous neurofibromas, which are unique to NF1. The purpose of this report is to discuss the study of a patient with classical features of both NF-I and NF-II, emphasizing the need for surveillance regarding sporadic mutations seen in NF I AND NF II genes, as well as genetic mosaicism to be kept in mind when diagnosing such patients.