neurofibromatosis type I (NF1)

This image
is part of a series which can be scrolled interactively with the mousewheel or mouse dragging. This is done by using Template:Imagestack. The series is found in the category. Orbitadysplasie bei Neurofibromatose Typ 1. MRT - FLAIR axial
Wikipedia • CC BY-SA 3.0
Neurofibromatosis
type 1 • Neurofibromatosis type 1 with pedunculated neurofibromas - Ganzer Fall bei Radiopaedia
Duarte, C. Neurofibromatosis type 1 with pedunculated neurofibromas. Case study, Radiopaedia.org. (accessed on 21 Oct 2022) https://doi.org/10.53347/rID-43002 • CC by-nc-sa 3.0 (modified)
School ager
with hypertension and neurofibromatosis Type 1. 3D reconstruction of a CT angiogram with contrast of the chest and abdomen (left) shows diffuse moderate narrowing of the mid aorta and marked narrowing of the origins of the renal arteries bilaterally. Spectral doppler US of the renal arteries (right) shows parvus tardis waveforms within them bilaterally.The diagnosis was bilateral renal artery stenosis in a patient with neurofibromatosis Type 1.
pediatricimaging.org • CC-by-nc-sa 4.0
Preschooler
with difficulties with vision. Axial (above) and coronal (below) T2 MRI without contrast of the brain shows the left globe is larger than the right globe. The optic nerves bilaterally are thickened and tortuous.The diagnosis was left macrophthalmia and bilateral optic pathway gliomas in a patient with neurofibromatosis type I.
pediatricimaging.org • CC-by-nc-sa 4.0
Preschooler
with cafe au lait spots. AP view of a 3D maximum intensity projection of an MRA of the neck with contrast (above) and AP (below left) and inferior (below right) views of a 3D maximum intensity projection of an MRA of the brain without contrast shows diffuse hypoplasia of the left internal carotid artery. There is stenosis and occlusion of the cavernous and supraclinoid segments of the left internal carotid artery and then there is a thin left M1 segment without evidence of collaterals in the basal ganglia. Additionally, aneurysms are noted in the left A1 and A2 segments.The diagnosis was Moya Moya syndrome in a patient with neurofibromatosis type I.
pediatricimaging.org • CC-by-nc-sa 4.0
Magnetic
resonance imaging of sellar and juxtasellar abnormalities in the paediatric population: an imaging review. Glioma in a 2-year-old girl with neurofibromatosis type 1. Sagittal (a) and axial (b) post contrast T1WI shows a partially enhancing lesion enlarging the optic chiasm and proximal optic nerves
insightsimaging.springeropen.com • Open Access
Imaging of
congenital lung diseases presenting in the adulthood: a pictorial review. A 32-year-old man with neurofibromatosis type 1. Coronal (a) reconstruction CT image in the lung window shows lung cysts (white arrows). Cutaneous neurofibroma (blue arrow) and neurofibroma arising from the intercostal nerve (red arrow) are seen on the coronal reconstruction image in the mediastinal window (b)
insightsimaging.springeropen.com • CC-by-4.0
Imaging of
parotid anomalies in infants and children. Neurofibroma, in a child with neurofibromatosis type 1. Frontal and axial T2-weighted images (a and b). Tumor infiltrating the left parotid gland and surrounding spaces. The NF is globally hyperintense (myxoid tissue), with multiple central hyposignals (collagen fibers): “target sign” [white arrow]
insightsimaging.springeropen.com • CC-by-4.0
Preschooler
with seizures. Axial (left) and coronal T1 MRI with contrast of the orbits shows marked thickening of the optic nerves bilaterally.The diagnosis was bilateral optic pathway gliomas in a patient with neurofibromatosis type I.
pediatricimaging.org • CC-by-nc-sa 4.0
School ager
with a rapidly enlarging soft tissue mass of the right chest and armCXR PA and lateral shows a right apical thoracic mass with associated rib thinning that had rapidly increased in size in a short interval. Axial CT without contrast of the chest better defined the right apical mass and demonstrated multiple serpiginous nodules in the soft tissues of the right anterior chest wall.The diagnosis was degeneration of a plexiform neurofibroma into a malignant peripheral nerve sheath tumor in a patient with neurofibromatosis type 1.
pediatricimaging.org • CC-by-nc-sa 4.0
School ager
with cafe-au-lait spotsCXR PA shows a large soft tissue mass in the apex of the right lung which causes thinning of the right 1st-5th ribs posteriorly. CT without contrast of the chest shows multiple small nodules throughout the soft tissues of the chest wall.The diagnosis was multiple plexiform neurofibromas in a patient with neurofibromatosis type 1.
pediatricimaging.org • CC-by-nc-sa 4.0
School ager
with skin stigmataCXR shows a posterior mediastinal mass. Coronal and sagittal T1 MRI without contrast of the thoracic spine shows dural ectasia.The diagnosis was neurofibromatosis type 1.
pediatricimaging.org • CC-by-nc-sa 4.0
EYE AND
OCULAR ADNEXA: PILOCYTIC ASTROCYTOMA Magnetic resonance image of a large retrobulbar optic nerve tumor causing massive proptosis.
Wikipedia • Public domain
This image
is part of a series which can be scrolled interactively with the mousewheel or mouse dragging. This is done by using Template:Imagestack. The series is found in the category Neurofibromatosis type I - orbital dysplasia - MRI - case 001. Orbitadysplasie bei Neurofibromatose Typ 1. MRT - T2w axial
Wikipedia • CC BY-SA 3.0
This image
is part of a series which can be scrolled interactively with the mousewheel or mouse dragging. This is done by using Template:Imagestack. The series is found in the category Neurofibromatosis type I - orbital dysplasia - MRI - case 001. Orbitadysplasie bei Neurofibromatose Typ 1. MRT - T1w axial
Wikipedia • CC BY-SA 3.0
School ager
with cafe au lait spots and upper back pain. Coronal conventional tomogram of the thoracic spine shows a soft tissue mass in the apex of the right lung causing scalloping of the right side of the upper thoracic vertebral bodies and a scoliosis convex left.The diagnosis was a paraspinal plexiform neurofibroma causing painful scoliosis in a patient with neurofibromatosis Type 1.
pediatricimaging.org • CC-by-nc-sa 4.0
Radiopaedia • CC-by-nc-sa 3.0 • de

Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is a multisystem neurocutaneous disorder, the most common phakomatosis, and a RASopathy. Additionally, it is also one of the most common inherited CNS disorders, autosomal dominant disorders, and inherited tumor syndromes.

Individual systemic manifestations are discussed individually:

The remainder of this article pertains to a general discussion of neurofibromatosis type 1.

Epidemiology

Neurofibromatosis affects 1:2500-3000 individuals . In half of the cases, the disease is inherited as an autosomal dominant condition. In the other half, the disease is due to a de novo mutation . There is a variable expression but 100% penetrance by 5 years of age .

Clinical presentation

As is the case with many phakomatoses, NF1 results in a variety of abnormalities of variable severity. To make the clinical diagnosis two or more of the following are required :

A mnemonic to help remember these features is CAFE SPOT.

In addition, ~45% (range 30-60%) of patients have learning disabilities, and approximately 1% have hypertension due to renal artery stenosis.

It is important to consider that NF1 has a much earlier age of onset than schwannomatosis and NF2, with approximately 50% of patients meeting the diagnostic criteria for NF1 by the age of 1 year and approximately 97% meeting the criteria by the age of 8 years .

Neoplasms

It should come as no surprise that a disease due to inactivation of a tumor suppressor gene (see below) is also associated with an increased incidence of numerous tumors :

Pathology

The NF1 gene locus is on chromosome 17q11.2 and the gene product is neurofibromin, which acts as a tumor suppressor of the Ras/MAPK pathway; inactivation of the gene thus predisposes to tumor development . For this reason, the disorder is classified as a RASopathy .

The disease primarily is a hamartomatous disorder that involves the ectoderm and mesoderm. Usually, three types of neurofibromas occur in this disorder and are distinguished on the basis of their gross and microscopic appearances.

  • localized neurofibroma (cutaneous neurofibroma): the most common type, is a focal lesion that typically is located in the dermis and subcutis
  • diffuse neurofibroma (subcutaneous neurofibroma): localized in the subcutis, usually in the head and neck region. 
  • plexiform neurofibroma: considered pathognomonic if present; they may be seen in virtually any location but usually occur in the neck, pelvis, and extremities 

Radiographic features

Breast
Central nervous system
  • FASI (focal areas of signal intensity): occur in deep white matter and basal ganglia or corpus callosum , areas of T2/FLAIR hyperintensity with no contrast enhancement
  • optic nerve glioma or optic pathway glioma (may manifest as enlarged optic foramen)
  • progressive sphenoid wing dysplasia
  • lambdoid suture defects
  • dural calcification at the vertex
  • moya-moya phenomenon (rare)
  • buphthalmos
Cutaneous
  • cutaneous and subcutaneous neurofibromas: benign peripheral nerve sheath tumors
Skeletal
Thoracic
Vascular

Treatment and prognosis

No single treatment exists, and a combination of supportive and surgical therapies are employed depending on the specific tumors and anomalies present.

Although prognosis is very variable, overall life expectancy is approximately half that of non-affected individuals. Tumors or cardiovascular complications are the most common causes of mortality .

History and etymology

The first name of this condition was Von Recklinghausen disease because, in 1882, von Recklinghausen described cases of neurofibromatosis and recognized it as a nosological entity .

See also

Siehe auch:
und weiter:
Assoziationen und Differentialdiagnosen zu Neurofibromatose Typ 1:
Duraektasie
 
www.eurorad.org • CC by-nc-sa-4.0
scalloping
Wirbelkörper
Wikipedia • CC BY-SA 4.0
Orbitadysplasie
 
Wikipedia • CC BY-SA 3.0
Moyamoya-Muster
 
pediatricimaging.org • CC-by-nc-sa 4.0
Phakomatosen
 
Wikipedia • CC BY-SA 4.0
Nephroblastom
 
pediatricimaging.org • CC-by-nc-sa 4.0
Opticusgliom
 
Wikipedia • Public domain
pulmonale
Hypertonie
Wikipedia • CC BY-SA 4.0
diffuses
intrinsisches Ponsgliom
www.eurorad.org • CC by-nc-sa-4.0
maligner
peripherer Nervenscheidentumor (MPNST)
Wikipedia • CC BY-SA 3.0
Arteriovenöse
Malformation
Wikipedia • CC BY-SA 3.0
Phäochromozytom
 
Wikipedia • CC BY-SA 4.0
Emphysembullae
 
Wikipedia • CC BY-SA 4.0
Leiomyosarkom
 
Wikipedia • CC BY-SA 3.0
Karzinoid
 
Wikipedia • CC BY-SA 4.0
Rhabdomyosarkom
 
pediatricimaging.org • CC-by-nc-sa 4.0
Nierenarterienstenose
 
trialsjournal.biomedcentral.com • CC-by-4.0
Aneurysma
 
Wikipedia • CC BY-SA 3.0
Pilozytisches
Astrozytom
Wikipedia • CC BY-SA 3.0
plexiformes
Neurofibrom
www.eurorad.org • CC by-nc-sa-4.0