“ Autosomal dominant inheritance, 50% spontaneous (long arm mutation on chromosome 17 ). Fifteen-times more common than neurofibromatosis t...
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Autosomal dominant inheritance, 50% spontaneous (long arm mutation on chromosome 17). Fifteen-times more common than neurofibromatosis type 2 (NF2). It is a dynamic, slow-growing disease with features that peak at 10 years of age before regressing. CNS, spine, musculoskeletal (MSK) and renal systems are most commonly affected.
MRI
• Optic nerve glioma (astrocytoma) is the most common intracranial abnormality (30%); look for a diffusely thickened optic nerve with avid enhancement (may extend into the subarachnoid space) and enlargement of the optic nerve foramina.
• Foci of abnormal signal intensity (or unidentified bright objects) on T2/FLAIR, typically in the basal ganglia and thalami, deep white matter and cerebellum.
• No mass effect or enhancement and no restriction on DWI.
• Check for flow voids—Moyamoya disease—due to bilateral internal carotid artery stenosis.
• Neurofibromas cause bony abnormalities in 60%: kyphosis, scoliosis, posterior vertebral scalloping, enlargement of the neural foramina
• Also lateral thoracic meningoceles and dural ectasia.
(a) Lateral x-ray of the lumbar spine showing scalloping of the posterior vertebral bodies (white arrow) and pedicles and widening of the spinal canal. (b) Sagittal T2-weighted magnetic resonance image showing a large mass filling and expanding the spinal canal and moulding between the spinous processes (white arrow). The diagnosis is a spinal neurofibroma.
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