Neurofibromatosis 2 (NF2): Clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity

摘要: To determine the spectrum of manifestations in neurofibromatosis 2 (NF2) and to assess possible heterogeneity, we evaluated 63 affected individuals from 32 families. Work-up included skin neurologic examinations, audiometry, a complete ophthalmology examination with slit-lamp biomicroscopy lens fundus, gadolinium-enhanced MRI brain and, some, spine. Mean age-at-onset 58 was 20.3 years; initial symptoms resulted vestibular schwannomas (44.4%), other CNS tumors (22.2%), (12.7%), ocular including cataracts retinal hamartomas (12.7%). Five asymptomatic were diagnosed through screening. Vestibular documented 62 (98.4%); findings (81.0%), (67.7%), spinal (67.4%), meningiomas (49.2%). Usually, clinical course similar within families but differed among assigned three proposed subtypes (representing mild, intermediate, severe NF2) based on age-at-onset, presence or absence than schwannomas, hamartomas. Comparisons for many parameters demonstrated that patients mild subtype those two most parameters, none distinguished intermediate subtype. Thus, there are likely rather NF2. Classification may aid counseling about long-term prognosis formulating individualized guidelines medical surveillance.