Debunking neurofibromatosis Type 2. Neuroimaging of adult diagnosis of MISME syndrome based on interest case reports

Abstract

Context: Schwannomatosis related to NF2 or MISME Syndrome and neurofibromatosis are not synonymous since cutaneous neurofibromas and peripheral involvement of NF1 exceptionally form a non-significant part of the MISME spectrum, so it is necessary to distinguish the associated and expected neuroradiological findings in order to reduce erroneous and late diagnoses with harmful results for patients carrying these mutations. Case presentation: Two cases are presented of patients with a baseline diagnosis of NF1 with and without family association who exhibit progressive insidious neurological, visual and/or auditory deterioration and in the neuroradiological examination express tumors of different strains in the central and spinal nervous system, conditioning major criteria for MISME syndrome of late diagnosis. Conclusion: High percentages of vestibular schwannomatous tumors and others associated with NF2 are part of the findings as major and minor criteria of MISME syndrome, them must be recognized and anticipated in order to request the corresponding contrasted CT and MR neuroimaging studies if there is a probability of SW related to avoid neurological deterioration caused by undiagnosed slow-growing expansive lesions.