Ces radiol. 2018, 72(2):113-118 | DOI: 10.55095/CesRadiol2018/019

Massive intramuscular bleeding in a neurofibromatosis type 1 patientCase report

Ondřej Živný¹, Antonín Krajina¹, Vendelín Chovanec¹, Michal Hůlek¹, Milan Vajda¹, Tomáš Kvasnička¹, Michal Leško²

¹ Radiologická klinika FN, Hradec Králové

² Chirurgická klinika FN, Hradec Králové

Neurofibromatosis type 1 (NF1) is relatively common genetic disorder with well known characteristics, such as neurofibroma formation, pigmental cutaneous abnormalities, skeletal deformities, renal artery stenosis and consecutive severe renovascular hypertension. Vascular involvement of peripheral vessels in NF1 is relatively neglected nosological unit, though its prevalence seems significantly higher than expected. Its prevalence (versus general population) is 2.5 times higher in patients who expired between 20^th and 29^th year of life, thus leading us to hypothesis about its severe impact on life expectancy. Our case narrates a diagnostics and therapy of a young NF1 patient with acute bleeding from a branch of profunda femoris artery with concomitant aneurysm of ipsilateral femoral vein and highlights perks and risks of surgical and endovascular treatment. Vascular lesions are often diffuse and vessels tend to be exceptionally brittle, leading to difficulties during surgical treatment. Endovascular treatment offers sparing alternative to some procedures. Acute bleeding in NF1 patients should be part of differential diagnosis in newly recognized soft-tissue masses and adequate diagnostical and therapeutical response should follow.

Keywords: neurofibromatosis 1, endovascular, bleeding, peripheral

Accepted: April 4, 2018; Published: June 1, 2018  Show citation