Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2005 Jun;32(3):180-97.
doi: 10.1016/s0150-9861(05)83136-0.

[Imaging features of neurofibromatosis type 1]

[Article in French]
C Jacques  1 , J L Dietemann
Affiliations
Review

[Imaging features of neurofibromatosis type 1]

[Article in French]
C Jacques et al. J Neuroradiol. 2005 Jun.

Abstract

Neurofibromatosis type 1 (NF1) is the most common of all the phakomatoses. It is an autosomal dominant disorder, with about 50% of patients being new mutations. NF1 is diagnosed based on the presence of well established diagnostic criteria. Prominent cutaneous manifestations include cafe-au-lait spots, freckling and cutaneous neurofibromas. CNS lesions are frequent and imaging is valuable for diagnosis, treatment and follow-up of patients. Tumors of the central nervous system are frequent. Optic nerve glioma usually affects younger patients with clinical symptoms in one third of cases. MRI shows fusiform enlargement with variable enhancement of the optic nerve. These tumors are usually non-aggressive with good prognosis. Other gliomas and astrocytomas can occur as well, usually midline in location, that also generally have good prognosis. Non-tumoral white matter lesions, referred as unidentified bright objects or UBO's, are frequently observed, typically in the basal ganglia and posterior fossa structures. These lesions are usually seen during childhood and they typically diminish with age. The distinction between UBO's and other tumors may be difficult to achieve at imaging, and a malignant evolution may very rarely be observed. Patients with NF1 may have hydrocephalus and dural sac anomalies leading to meningocele formation. Neurofibromas and plexiform neurofibromas involve peripheral nerves and nerve sheaths. Plexiform neurofibromas may cause radicular symptoms. They more frequently involve the lumbosacral plexus. Neurofibromas are homogeneous oval shaped tumors that may extend into the spinal canal. Neurofibrosarcoma is the main cause of death of NF1 patients less than 40 years of age. It may develop de novo or from sarcomatous degeneration of a pre-existing plexiform neurofibroma. It should be suspected in patients with new onset of symptoms or patients with changing symptoms. At imaging, it is characterized by a large heterogeneous tumor invading adjacent structures. Osseous lesions have been described including progressive thoracic scoliosis, vertebral anomalies (posterior scalloping is very suggestive), long bones anomalies with frequent bowing of the tibia, sometimes resulting in pseudarthrosis, and rib anomalies with ribbon ribs. Vascular lesions may occur resulting in arterial hypertension and aneurysm formation.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

  • An extreme case of neurofibromatosis type 1.
    Stimac D, Novak S, Guina T. Stimac D, et al. Wien Klin Wochenschr. 2007;119(3-4):90. doi: 10.1007/s00508-006-0749-0. Wien Klin Wochenschr. 2007. PMID: 17347856 No abstract available.
  • The dentate nucleus in children: normal development and patterns of disease.
    McErlean A, Abdalla K, Donoghue V, Ryan S. McErlean A, et al. Pediatr Radiol. 2010 Mar;40(3):326-39. doi: 10.1007/s00247-009-1504-2. Epub 2010 Jan 28. Pediatr Radiol. 2010. PMID: 20107778
  • c-Fms signaling mediates neurofibromatosis Type-1 osteoclast gain-in-functions.
    He Y, Rhodes SD, Chen S, Wu X, Yuan J, Yang X, Jiang L, Li X, Takahashi N, Xu M, Mohammad KS, Guise TA, Yang FC. He Y, et al. PLoS One. 2012;7(11):e46900. doi: 10.1371/journal.pone.0046900. Epub 2012 Nov 7. PLoS One. 2012. PMID: 23144792 Free PMC article.
  • Severe Phenotype in Patients with Large Deletions of NF1.
    Pacot L, Vidaud D, Sabbagh A, Laurendeau I, Briand-Suleau A, Coustier A, Maillard T, Barbance C, Morice-Picard F, Sigaudy S, Glazunova OO, Damaj L, Layet V, Quelin C, Gilbert-Dussardier B, Audic F, Dollfus H, Guerrot AM, Lespinasse J, Julia S, Vantyghem MC, Drouard M, Lackmy M, Leheup B, Alembik Y, Lemaire A, Nitschké P, Petit F, Dieux Coeslier A, Mutez E, Taieb A, Fradin M, Capri Y, Nasser H, Ruaud L, Dauriat B, Bourthoumieu S, Geneviève D, Audebert-Bellanger S, Nizon M, Stoeva R, Hickman G, Nicolas G, Mazereeuw-Hautier J, Jannic A, Ferkal S, Parfait B, Vidaud M, Members Of The Nf France Network, Wolkenstein P, Pasmant E. Pacot L, et al. Cancers (Basel). 2021 Jun 13;13(12):2963. doi: 10.3390/cancers13122963. Cancers (Basel). 2021. PMID: 34199217 Free PMC article.
  • The haploinsufficient hematopoietic microenvironment is critical to the pathological fracture repair in murine models of neurofibromatosis type 1.
    Wu X, Chen S, He Y, Rhodes SD, Mohammad KS, Li X, Yang X, Jiang L, Nalepa G, Snider P, Robling AG, Clapp DW, Conway SJ, Guise TA, Yang FC. Wu X, et al. PLoS One. 2011;6(9):e24917. doi: 10.1371/journal.pone.0024917. Epub 2011 Sep 29. PLoS One. 2011. PMID: 21980365 Free PMC article.
See all "Cited by" articles

MeSH terms

LinkOut - more resources