Type:
Educational Exhibit
Keywords:
Genetic defects, Education and training, Diagnostic procedure, MR, Neuroradiology brain, Head and neck, CNS
Authors:
E. ATEŞ, H. G. Düzkalir, Y. Karagoz, A. S. Mahmutoglu, I. sel; İstanbul/TR
DOI:
10.26044/ecr2019/C-1491
Background
Neurocutaneous syndromes are a group of disorders that affect the ectodermal and mesodermal tissues.
NF1 is the most common disease in this group.
About half of all cases are autosomal dominant.
The rest of them occur sporadically by a mutation in the NF1 gene on chromosome 17q11.2,
which encodes a tumor suppressor protein called “neurofibromin” [1].
This protein has a role in cell growth and signaling pathways.
Inactivation of this protein predisposes to tumor development.
NF1 primarily affects the skin,
central and peripheral nervous systems,
eyes,
and musculoskeletal system.
Neuroimaging features of NF1 can be reviewed under two categories:
Neoplastic and non-neoplastic lesions (Table 1).
Dysplastic white matter lesions,
bone dysplasias,
dural ectasia,
and arteriopathy are non-neoplastic lesions.
Neoplasms include neurofibromas,
gliomas,
and malignant peripheral nerve sheath tumors.