neurofibromatosis, type 2

neurofibromatosis, type 2

Central neurofibromatosis, bilateral acoustic neurofibromatosis An AD condition less common than NF1, which affects several thousand Pts in the US; in 95%, the gene defect is located on chromosome 22q11.21-q13.1, 1st seen in late adolescence; NF2 is diagnosed in the presence of either bilateral 8th nerve masses by CT or MRI, or when a Pt known to have a 1st-degree relative with NF2 presents with either a unilateral 8th nerve mass or 2+ 'neural crest' tumors–eg, neurofibroma, meningioma, glioma, spinal neurofibromatosis, schwannoma, or juvenile posterior subcapsular lenticular opacity.
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