Diagnostic Neuroimaging Features of Neurofibromatosis-1

Congress:

ECR 2019

Poster Number:

C-1491

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

DOI-Link:

https://dx.doi.org/10.26044/ecr2019/C-1491

Table 1: Neuroimaging features of NF1 can be reviewed under two categories: Neoplastic...

Fig. 1: T2W (a) and FLAIR (b) MR images of a 2y girl with NF1 show hyperintense lesions...

Fig. 2: Axial T1W (a) and T2W (b) MR images of a 7y girl with NF1 show right sided...

Fig. 3: Axial (a) and sagittal (b) T2W images of a 51y female patient with NF1 show...

Learning objectives

Reviewing characteristic neuroimaging features of Neurofibromatosis Type 1 (NF1).

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,...

Findings and procedure details

Non-neoplastic lesions Dysplastic white matter lesions are zones of myelin vacuolization histopathologically (Fig.1). They are characterized as multifocal hyperintensities on T2W/FLAIR images and also called as “focal areas of signal intensity (FASI)”. They do not enhance following contrast administration. These areas are commonly seen in the basal ganglia (especially in the globi pallidi), cerebellar white matter, thalamus and brainstem. They do not cause a mass effect. Usually, these foci regress in the 20s and disappear eventually [2]. Bone dysplasias occur in the skull, spine and...

Conclusion

Although diagnosis of NF1 is mostly based on clinical criterias, understanding the imaging characteristics of NF-1 is critical for early detection of malignancies and guiding treatment.

Personal information

References

Osborn AG, Hedlund GL, Salzman KL.Familial Cancer Predisposition Syndromes In: Osborn’s Brain, 2nd ed.,Elsevier,2017: 1241-1277. Barkovich AJ, Koch BL, Moore KR. Neurofibromatosis Type 1, Brain. In: Diagnostic Imaging: Pediatric Neuroradiology, 2nd ed., Elsevier,2015: I-8;2-5. Milburn JM, Gimenez CR, Dutweiler E. Clinical Images: Imaging Manifestations of Orbital Neurofibromatosis Type 1. Ochsner J. 2016 Winter; 16(4): 431–434. Neel B. Patel, Gregory Scott Stacy. Musculoskeletal Manifestations of Neurofibromatosis Type 1 American Journal of Roentgenology. 2012;199: W99-W106. Terry AR, Jordan JT, Schwamm L, Plotkin SR. Increased risk of cerebrovascular...