Abstract / Summary
BACKGROUND: Neurofibromatosis type 1 (NF1) is an autosomal dominant multisystem disorder characterized by variable clinical expression. Although cutaneous manifestations are the most recognizable features, NF1 may be associated with clinically significant vascular abnormalities involving multiple arterial territories. We report an adolescent with NF1 and concomitant renal and intracranial vasculopathy. CASE PRESENTATION: A 15-year-old girl with no relevant family history presented with a 4-day history of severe frontal headache, vomiting, generalized weakness, and left eyelid ptosis. Physical examination revealed multiple café-au-lait macules and axillary and inguinal freckling, fulfilling the revised 2021 diagnostic criteria for NF1. During hospitalization, persistent hypertension was documented, with blood pressure values up to 180/90 mmHg. Complete blood count, liver function tests, serum electrolytes, and renal function remained within age- and sex-appropriate reference ranges. Renal angiography demonstrated approximately 80% proximal stenosis of the left renal artery followed by aneurysmal dilatation measuring 4 × 8 mm. The patient subsequently developed acute neurologic deterioration with intraventricular hemorrhage and ventriculomegaly. Cerebral angiography revealed a 13 × 15 mm saccular aneurysm of the left posterior communicating artery associated with complete ipsilateral third cranial nerve palsy. Coil embolization of the intracranial aneurysm and balloon angioplasty of the left renal artery were successfully performed, resulting in complete angiographic occlusion of the aneurysm and improved blood pressure control, although antihypertensive therapy remained necessary. CONCLUSION: This case highlights the potential for NF1-associated vasculopathy to affect multiple arterial territories simultaneously. Difficult-to-control hypertension and new focal neurologic findings in patients with NF1 should prompt targeted vascular evaluation. Early recognition and multidisciplinary management are essential to identify potentially severe renal and intracranial vascular complications.