Table 14 Neurocutaneous syndromes phakomatoses



Imaging Features


Neurofibromatosis type-1 (NF1; Von Recklinghausen's disease)

Autosomal dominant Caused by mutations in a tumor-suppressor gene on chromosome 1 7 >90% of cases of neurofibromatosis Café au lait spots Cutaneous neurofibromas Lisch nodules (pigmented hamartomas of the iris) Macrocephaly Kyphoscoliosis Mental retardation Family history


Enlargement, enhancement and |T2 SI of optic nerves/ch iasm/tracts Gliomas of brainstem, tectum and cerebellum Craniofacial plexiform neurofibromas

(heterogeneous JT1 and |T2 SI, enhance) Foci of myelin vacuolization in brainstem, cerebellum, internal capsule, and splenium (normal T1 and |T2 SI, no mass effect or enhancement) Sphenoid wing dysplasia

Enlargement of subarachnoid space due to dural ectasia Vascular dysplasia (stenosis or occlusion of carotid arteries, and proximal MCA and ACA)


Lateral meningoceles ("diverticuli of thecal sac") Neurofibromas of spinal nerve roots (|T1 and T2, enhance);

expansion of neuroforamina Spinal cord gliomas (isointense or JT1, |T2, variable enhancement) Scalloping of posterior vertebral bodies due to dural ectasia f = increased; J = decreased; ACA = anterior cerebral artery; MCA = middle cerebral artery; SI = signal intensity

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