Cerebral Vasculopathy in Children with Neurofibromatosis Type 1
Abstract
:Simple Summary
Abstract
1. Introduction
2. Pathogenesis
Type of Study | N | NF1 Age at Diagnosis (Years) | CVD Age at Diagnosis (Years) | Imaging Modality | Type of CVD | Vessels Involved | Reason for Imaging | Signs/Symptoms (N) | Treatment (N) | |
---|---|---|---|---|---|---|---|---|---|---|
[11] | Case series | N = 353 MRI 316 CVD 8 | 1.4 | 7.3 | MRI MRA DSA | Stenosis/Occlusion Ischemia Ectasia Moyamoya Aneurysm Hypoplasia | ICA MCA PCA | Screening | Hemiparesis Seizure Asymptomatic (7) | Revascularization (3) |
[4] | Case series | N = 698 MRI 144 CVD 7 | 1.5–5 | 6.8 | MRI MRA DSA | Hypoplasia Stenosis/Occlusion Collateral vessels | ICA ACA MCA PCA | Clinical indication | Seizure (1) Hemiparesis (1) Paresthesia (1) TIA (1) Asymptomatic (5) | Revascularization (1) |
[10] | Retrospective Cohort | N = 419 MRI 266 CVD 17 | 2 | 5.2 | MRI MRA CT CTA DSA | Stenosis/Occlusion Aneurysm Moyamoya | ICA ACA MCA | Clinical indication | Seizure (3) Hemiparesis (1) Speech delay (2) Bell’s palsy (1) LD (4) Paresthesias (1) Weakness (2) Hyperreflexia (2) ADD (1) Hyperphagia (1) Dysphasia (1) Infantile Spasms (1) Hypertonia (1) Clonus (1) Ptosis (1) RAPD (1) Hemiballisumus (1) Dystonia (1) Aphasia (1) Fine motor delay (1) | Revascularization (6) |
[7] | Case series | N = 398 MRI 312 MRA 143 CVD 15 | 4.3 | 11.7 | MRI MRA CTA DSA | Stenosis/Occlusion Ischemia Moyamoya | ICA MCA PCA VA | Screening OR symptoms | Headache (5) Seizures (2) Asymptomatic (7) | Revascularization (1) |
[9] | Cross-sectional | N = 181 MRI 77 CVD 12 | 8 | 3–13 | MRI MRA DSA | Moyamoya Stenosis/Occlusion Tortuosity Elongation Displacement DVA | ACA MCA < ICA PCA VA | Weakness (1) Decreased responsiveness (1) Asymptomatic (10) | Revascularization (2) | |
[17] | Case series | N = 6 | 2.7 | 11.4 | MRI MRA DSA SPECT | Moyamoya (6) Stenosis/Occlusion ICH | ICA ACA MCA | TIA (3) Headache (1) ICH (1) Ischemia (1) | Revascularization (5) | |
[18] | Retrospective Cohort | N = 18 | 2.9 | 7.4 | MRI MRA DSA | Moyamoya (18) | ACA MCA PCA | Screening (8) Symptoms (10) | Hemiparesis (2) Seizure (2) Headache (6) Asymptomatic (8) | Revascularization (11) |
[3] | Retrospective Cohort | N = 24 | N/A | 7 | MRI MRA DSA | Moyamoya (19) Stenosis (5) Aneurysm (1) | ICA MCA | Screening OR symptoms | Hemiparesis (6) TIA/Stroke (6) Seizure (2) Headache (3) Optic pathway glioma (6) Asymptomatic (8) | Revascularization (19) |
3. Associations between Cerebral and Peripheral Vasculopathy
4. Clinical Symptoms
5. Imaging Techniques
6. Management of Moyamoya Syndrome in Children with NF1
6.1. Medical Management
6.2. Intervention—Surgical
7. Surveillance Imaging and Optimal Monitoring for Cerebrovascular Disease in NF1
8. Conclusions and Future Directions
Author Contributions
Funding
Acknowledgments
Conflicts of Interest
References
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Advantages | Disadvantages | |
---|---|---|
MRI | No radiation Excellent visualization of brain parenchyma Accessible | May miss vasculopathy with no dedicated vascular imaging Requires sedation in children Moderate cost |
MRA | No radiation Rapid Accessible | Limited visualization of small blood vessels Requires sedation in children Moderate cost |
CTA | Excellent visualization of cerebral arteries Accessible | Poor visualization of brain parenchyma Radiation exposure |
DSA | Dynamic view of cerebral vasculature Gold standard | Invasive Requires sedation in children Radiation exposure Small risk of stroke Not universally available in children Most expensive |
Transcranial Doppler | Non-invasive Established in other populations with syndromic moyamoya | Lower sensitivity than MRA May be challenging in small children due to patient size and cooperativity Interpretation can be operator dependent Not universally available in children Sensitivity/specificity for NF1-related moyamoya not established Least expensive |
ASL | Assessment of perfusion No contrast required No radiation exposure | Can overestimate the area of hypoperfusion Will not detect moyamoya prior to MRI Requires sedation in children Moderate cost |
SPECT | Gold standard for perfusion deficits | Radiation exposure Limited institutional availability Requires sedation in children Moderate cost |
MR Perfusion | Assessment of perfusion No radiation exposure | Requires contrast Requires sedation in children Moderate cost |
CT Perfusion | Assessment of perfusion | Requires contrast Radiation exposure |
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Lehman, L.L.; Ullrich, N.J. Cerebral Vasculopathy in Children with Neurofibromatosis Type 1. Cancers 2023, 15, 5111. https://doi.org/10.3390/cancers15205111
Lehman LL, Ullrich NJ. Cerebral Vasculopathy in Children with Neurofibromatosis Type 1. Cancers. 2023; 15(20):5111. https://doi.org/10.3390/cancers15205111
Chicago/Turabian StyleLehman, Laura L., and Nicole J. Ullrich. 2023. "Cerebral Vasculopathy in Children with Neurofibromatosis Type 1" Cancers 15, no. 20: 5111. https://doi.org/10.3390/cancers15205111