Table 3.
Characteristics of Children with Neurofibromatosis Type 1-Associated Vasculopathy (N=14)
| Patient Number |
Sex | Age at Diagnosis of Vasculopathy (y) |
Indications for Imaging | Symptoms of Vasculopathy | Vascular Findings on Imaging | Treatment | Evidence of Progression |
Follow-up (y) |
|---|---|---|---|---|---|---|---|---|
| 1 | F | 5 | Seizure, stroke-like symptoms | Stroke (Right-sided weakness, decreased responsiveness) | Moyamoya; left ACA, MCA, ICA stenosis; left hemisphere stroke | Surgery, aspirin | No | 6.5 |
| 2 | F | 9 | Right-sided weakness | TIA (hemiparesis) at age 3, clinically stable for 6 years | Moyamoya; right MCA/ICA stenosis | Aspirin | No | <1 |
| 3 | F | 4 | OPG | None | Moyamoya; bilateral ACA, MCA, ICA stenosis | None | No | 8 |
| 4 | M | 3 | OPG | None | Moyamoya; bilateral ACA, MCA, left PCA stenosis; left subcortical stroke | Surgery, aspirin | No | 1.2 |
| 5 | M | 9 | OPG | None | Moyamoya; right MCA stenosis | None | Yes | 7.4 |
| 6 | M | 12 | Chiari -1 malformation | None | Left ICA occlusion, DVA | None | No | <1 |
| 7 | M | 8 | Neck mass, ganglioglioma | None | Right ICA/VA tortuosity, DVA | Surgery | No | <1 |
| 8 | M | 12 | Headaches | None | Bilateral MCA/ICA elongation | None | N/A* | 0 |
| 9 | F | 13 | Neck mass, PN | None | Cavernous ICA tortuosity | None | No | 1.8 |
| 10 | M | 6 | Facial neurofibroma | None | Left ICA stenosis, displacement | None | N/A* | 0 |
| 11 | M | 8 | Mood changes, wide-based gait | None | Bilateral MCA/ICA elongation | None | No | 1.5 |
| 12 | M | 11 | OPG, unusual gait | None | Bilateral ICA tortuosity | None | Yes | 7 |
| 13 | F | 7 | Hypertension | Hypertension, seizures, renal failure | Mid aortic syndrome: stenosis of abdominal aorta, SMA, celiac trunk, RAs | Surgery, anti- hypertensive medication, aspirin | Yes | 3 |
| 14 | M | 5 | Hypertension | Hypertension | Mid aortic syndrome: suprarenal abdominal aortic stenosis | Surgery, anti-hypertensive medication | Yes†* | 0 |
Abbreviations: ACA, anterior cerebral artery; DVA, developmental venous anomaly; ICA, internal carotid artery; MCA, middle cerebral artery, PCA, posterior cerebral artery; PN, plexiform neurofibroma; OPG, optic pathway glioma; RA, renal artery; SMA, superior mesenteric artery; TIA, transient ischemic attack; VA, vertebral artery.
Indicates a patient without an available follow-up study
Follow-up images were not available for review, but the child progressed clinically with difficult-to-control hypertension and progression of aortic vasculopathy per outside radiology report. He had surgical revascularization for mid-aortic syndrome at an outside institution.