Brain Artery Stenosis in Neurofibromatosis Type 1 (NF1)

1
Brain Artery Stenosis in Neurofibromatosis Type 1
(NF1)

• A. DAmico , F. DArco , F. Caranci , D. Melis ,
  R. Taurisano ,E. Del Giudice , G. Lama , A.
  Scuotto , R. Conforti, M. Melone , N. Di Paolo ,
  A. Brunetti .

2
In addition to the most frequently encountered
abnormalities such as café au lait spots, nerve
sheath tumors, low grade gliomas, the protein
product of the NF1 gene (neurofibromin) expressed
in endothelial and smooth muscle cells, could be
responsible for a NF1 associated vasculopathy.
3
neurofibromin
4
Regulation by NF1 on RAS pathway
endothelial and smooth muscle cells proliferation
NF1 associated vasculopaty
5
Materials and methods
- 81 patients with NF1 (diagnosed according to
standard criteria NIH)
6
INDICATION FOR Neuroimaging in 80 children with
nf1
the NIH Consensus Developement Conference did
not recommend CT or MRI studies for asyimptomatic
patients with NF1 1
SYMPTOMS N ()
NEW NF1 DIAGNOSIS 8 (10)
HEADACHES 20 (25)
VISUAL DEFICIENCY 21 (26)
ORBITOFACIAL MASS 10 (12)
MACROCEPHALY 5 (6)
FOLLOW UP OF KNOWN BRAIN TUMOR 4 (5)
DEVELOPMENT DELAY 10 (12)
PONTINE SIGNS 1 (1)
SUSPECT PARAMEDIAN DIENCEPHALIC SYNDROME 1 (1)
perform cranial MRI only in patiens in whom
there is a clinical indication, such a visual or
endocrine disturbance, increasing occipitofrontal
circumference, headache suggestive of
intracranial pathology, seizures and follow up of
intracranial and spinal tumors 2
1
2
7
RESULTS
8
NEUROIMAGING FINDINGS
Patient No. Gender Age at Neuroimaging MRI Vascular Findings
1 M 22 Stenosis left ICA (0.5 T 2D TOF MRA)
2 F 35 Stenosis left MCA right ACA. Narrowing left ICA
3 F 10 Stenosis right ICA, right MCA, right PCA, and both the ACAs
4 F 4 Stenosis left MCA
5 M 12 Stenosis supraclinoid ICA, right PCA (Moyamoya)
6 M 19 Stenosis right PCA
7 F 21 Intracavernous aneurysm of left () and right () ICAs
9
Patient n1
Advanced stenosis of the entire intracranial
tract of the left internal carotid artery (ICA)

• Gender M
• Age 22 y
• - 0.5 T 2D-TOF MRA

10
Patient n2
Important narrowing of left carotid siphon
Flow signal of the left MCA and right ACA was not
appreciable

• Gender F
• Age 35y
• 1.5 T MRI-MRA (TOF 3D)

11
Patient n3
Previously treated by radiotherapy consequently
to a right optic nerve glioma. Cavernous
malformation of the left temporal lobe

• Gender F
• Age 10y
• 1.5 T MRI-MRA (TOF 3D)

12
Patient n3
Is not possible exclude that both these lesions
had been caused by the Radiotherapy
Advanced stenosis of the entire tract of the
right ICA with absence of flow signal from the
right MCA, and both the ACAs and focal stenosis
of the right PCA
13
RULE OF RADIOTEHRAPY IN VASCULAR PATHOLOGY
especially for children with optic gliomas
treated with radiotherapy, whereby about 30 of
the cases experience a progressive vascular
pathology within the field of irradiation
Childs Nerv Syst (2004), 20382-391
Localization of the stenoses, outside of the
irradiated field for the right optic nerve, not
excluding a neurofibromatosis cause!
14
Patient n4

• Gender F
• Age 4y
• 1.5 T MRI-MRA (TOF 3D)

Stenosis left MCA and rigth PCA
15
Patient n5
Complete bilateral disappearing of the
supraclinoid ICA and of the right PCA, with a lot
of secondary vessels collateralizations,
delineating a typical case of Moyamoya (puff of
smoke).

• Gender M
• Age 12 y
• 1.5 T MRI-MRA (TOF 3D)/CE-MRI

16
Patient n6

• Gender M
• Age 19 y
• 1.5 T MRI-MRA (TOF 3D)

Stenosis of the right PCA
17
Patient n7

• Gender M
• Age 21 y
• Angio-CT
• Angiography

Large fusiform intracavernous aneurysm of the
left ICA
BECAME SYMPTOMATICleft painful ophthalmoplegia
caused by aneurysm thrombosis.
18
Discussion conclusion

• Prevalence of cerebral arteriopathy in this study
  was about 7
• Real prevalence of cerebral arteriopathy could be
  understimated because majority of patients are
  asymptomatic or dont undergo an MRA

• About 30 of patients have a progressive vessel
  stenosis and symptoms worsening

• Association with optic glioma has been described
  ? possible BIAS
• Patients with glioma undergo brain MRI

19
Discussion conclusion
NF1 patients who are undergoing neuroimaging
should have MRA for detect arteriopathy that may
be progressive and asymptomatic
20
Thank you
Service of Neuroradiology University Federico II
Neaples