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Review
. 2014 Mar 28;19(1):17.
doi: 10.1186/2047-783X-19-17.

Renal artery stenosis due to neurofibromatosis type 1: case report and literature review

Lian Duan, Kai Feng  1 , Anli Tong, Zhiyong Liang
Affiliations
Review

Renal artery stenosis due to neurofibromatosis type 1: case report and literature review

Lian Duan et al. Eur J Med Res. .

Abstract

Background: Neurofibromatosis type 1 (NF1) is a relatively common autosomal dominant disorder. The most common vascular abnormality in patients with NF1 is bilateral or unilateral renal artery stenosis.

Case report: A 16-year-old boy presented with a headache of 4-year duration and was found to be moderately hypertensive. On physical examination, axillary freckling and multiple café-au-lait spots were revealed over the trunk, while numerous small nodules were palpable on the limbs. Biopsy of subcutaneous nodule showed neurofibroma. Lisch nodules were identified on slit-lamp examination and grade I hypertensive retinopathy was present on fundoscopy. Clinical laboratory investigations revealed that renal and liver function tests, blood cells count, urinalysis, serum electrolytes, serum levels of renin and aldosterone, and 24-hour urine levels of catecholamines were all within normal ranges. Abdominal ultrasound and CT were normal. Both kidneys were of normal size. CT angiography showed right renal artery stenosis (>90%) at the ostium. The final diagnosis of NF1 with right renal artery stenosis and secondary hypertension was then made. The patient was treated with Procardin (30 mg/d) and improved with a significant decline in blood pressure. The main outcomes were to control blood pressure without necessarily proceeding with PTRA. We also present a review of the literature.

Conclusions: NF1 may present with hypertension due to renal artery stenosis in children. All young patients (<30 year) with hypertension should be clinically screened for secondary causes of hypertension, including NF1, so that renal revascularization can be offered before permanent end organ damage has occurred. First-line management using medication alone could be appropriate, keeping the interventional options for when the patient's condition deteriorates.

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Figures

Figure 1
Figure 1
The special signs of the patient. Axillary freckling (a) and multiple caféau-lait spots (b) spread over the skin of the trunk.
Figure 2
Figure 2
Pathology result of subcutaneous nodules. (a) Hematoxylin and eosin (HE) staining of subcutaneous nodules revealed the diagnosis of neurofibroma accompanied by mucinous degeneration (magnification × 40). (b) Immunohistochemistry staining for S-100 protein was positive (magnification × 40).
Figure 3
Figure 3
Computed tomography angiography of the renal vessels. The initial segment of the right artery was almost occluded, but there was a collateral circulation from the subphrenic artery. Blood flow was 36.7 ml/minute in the right renal, and 57.1 ml/minute in the left.
See this image and copyright information in PMC

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