Rare Multifocal Arterial Involvement in Neurofibromatosis Type 1: A Case Report

Abstract

Neurofibromatosis type 1 (NF1) or Von Recklinghausen disease is an autosomal dominant genetic disease. Its clinical expression, which is extremely variable, is dominated by cutaneous, nervous and ocular manifestations. It corresponds to an abnormality in the development of ectodermal tissue, mainly resulting in various malformations of the neuraxis and development of small tumours (phacomas) involving the skin, nervous system and eye. However, vascular involvement during NF1 is rare. A case report of stenosing and aneurysmal arterial lesions, discovered during a CT scan, in a 26-year-old patient with iron deficiency anaemia at 4 g/dl, is presented. This examination was carried out as part of the etiological assessment of iron deficiency, the initial investigation of which was not conclusive. After eliminating the usual causes, notably infectious and systemic, the arterial damage was attributed to type 1 neurofibromatosis. On the therapeutic side, anaemia responded well to oral iron treatment. For vascular lesions, therapeutic abstention with clinical and radiological monitoring was decided, after the opinion of cardiovascular surgeons. During NF1, the contribution of imaging, in particular computed tomography angiography or magnetic resonance imaging angiography, is crucial in screening, mapping of vascular lesions, which are often multiple during NF1, as was the case in the patient, as well as in their subsequent follow-up.