Limits...
Neurofibromatosis-1, NF1, NF-1

USU Teaching File MUTF - MedPix (2001)

View Article: MedPix Image - MedPix Topic

Affiliation: Uniformed Services University

ABSTRACT

von Recklinghausen neurofibromatosis or NF-1 is a neurocutanoues syndrome believed to be caused by an abnormality of neural crest development, that affects 1:4000. It is transmitted as an autosomal dominant trait, although it is estimated that 50% are due to new spontaneous mutations. The NIH has established criteria for the diagnosis of Neurofibromatosis-1(2 out of these 7 criteria required): 1. 6 or more cae-au-lait macules over 5mm (prepubertal) or 15mm (post-pubertal) 2. 2 or more neurofibromas or 1 plexiform neurofibroma 3. axillary or inguinal freckling 4. optic nerve glioma 5. 2 or more Lisch nodules (iris hamartomas) 6. distinctive osseous lesions, such as sphenoid dysplasia or thinning of the long bone cortex with or without pseudarthrosis 7. a first degree relative with NF-1 by the above criteria. Radiographically, neurofibromas, osseous lesions, and optic gliomas may be visualized. NF-1 patients are at higher risk than the general population for intracranial tumors, especially astrocytomas, and these may be visualized by imaging, also. In addition, UBO's (Unidentified Bright Objects) have been described, which are signal hyperintense foci noted on T-2 weighted images of head MRI's. These UBO's are found in 80% of young patients with NF and are usually located in the periventricular white matter, globus pallidus, basal ganglia, midbrain, or the cerebellum. These lesions are usually asymptomatic and tend to disappear with age, especially past puberty.

No MeSH data available.


Extensive plexiform neurofibromas in S-Spine and lower extremities
© Copyright Policy - open-access
Related In: Results  -  Collection

License
getmorefigures.php?uid=MPX2643&req=5

MPX2643_synpic592: Extensive plexiform neurofibromas in S-Spine and lower extremities


Neurofibromatosis-1, NF1, NF-1

USU Teaching File MUTF - MedPix (2001)

Extensive plexiform neurofibromas in S-Spine and lower extremities
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=MPX2643&req=5

MPX2643_synpic592: Extensive plexiform neurofibromas in S-Spine and lower extremities

View Article: MedPix Image - MedPix Topic

Affiliation: Uniformed Services University

ABSTRACT

von Recklinghausen neurofibromatosis or NF-1 is a neurocutanoues syndrome believed to be caused by an abnormality of neural crest development, that affects 1:4000. It is transmitted as an autosomal dominant trait, although it is estimated that 50% are due to new spontaneous mutations. The NIH has established criteria for the diagnosis of Neurofibromatosis-1(2 out of these 7 criteria required): 1. 6 or more cae-au-lait macules over 5mm (prepubertal) or 15mm (post-pubertal) 2. 2 or more neurofibromas or 1 plexiform neurofibroma 3. axillary or inguinal freckling 4. optic nerve glioma 5. 2 or more Lisch nodules (iris hamartomas) 6. distinctive osseous lesions, such as sphenoid dysplasia or thinning of the long bone cortex with or without pseudarthrosis 7. a first degree relative with NF-1 by the above criteria. Radiographically, neurofibromas, osseous lesions, and optic gliomas may be visualized. NF-1 patients are at higher risk than the general population for intracranial tumors, especially astrocytomas, and these may be visualized by imaging, also. In addition, UBO's (Unidentified Bright Objects) have been described, which are signal hyperintense foci noted on T-2 weighted images of head MRI's. These UBO's are found in 80% of young patients with NF and are usually located in the periventricular white matter, globus pallidus, basal ganglia, midbrain, or the cerebellum. These lesions are usually asymptomatic and tend to disappear with age, especially past puberty.

No MeSH data available.