Abstract

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with primarily cutaneous and neurological manifestations. Vascular complications are rare but potentially fatal, often overlooked due to more prominent skin findings. A 41-year-old woman with NF1 presented with left upper limb weakness, neck swelling, ptosis, and hoarseness. Initially presumed to be a neurofibroma, imaging revealed a giant subclavian artery pseudoaneurysm compressing the brachial plexus. She underwent surgical resection via trapdoor thoracotomy. Intraoperatively, subclavian artery avulsion was noted, requiring massive transfusion. Histopathology confirmed pseudoaneurysm. Recovery was uneventful, and long-term follow-up was planned. This case highlights NF1-related subclavian pseudoaneurysm caused by vascular fragility from smooth muscle dysplasia and elastica disruption. Angiography was crucial to distinguish it from neurofibroma by showing contrast extravasation and arterial connections. Surgical resection via trapdoor thoracotomy, complicated by subclavian avulsion and massive transfusion, reflects the high-risk nature of NF1 vascular surgery. Multidisciplinary care and long-term follow-up are essential due to frequent vascular recurrence.

Key words: Neurofibromatosis Type 1, Pseudoaneurysm, Subclavian artery, Vascular complications