Spontaneous rupture of a dissecting aneurysm in the superior rectal artery of a patient with neurofibromatosis type 1: a case report

INTRODUCTION Neurofibromatosis type 1 is an autosomal dominant disease primarily characterized by cutaneous café au lait spots, benign cutaneous neurofibromas, tumors of the central and peripheral nervous system, multiple skeletal abnormalities, and vascular abnormalities. CASE PRESENTATION Here we describe the case of a 39-year-old Japanese man with neurofibromatosis type 1 complicated by the rupture of a dissecting aneurysm in his superior rectal artery. Our patient presented with temporary loss of consciousness and acute abdominal pain. Hemorrhagic shock and anemia were diagnosed based on a physical examination and laboratory investigations, and rapid infusion of Ringer's lactate solution was initiated. Contrast-enhanced abdominal computed tomography revealed hemorrhagic ascites with effusion of radiopaque dye into his pelvic cavity. A ruptured aneurysm was suspected in his superior rectal artery and selective angiography of the inferior mesenteric artery confirmed this diagnosis. Transcatheter arterial embolization was successfully performed and our patient was discharged 15 days after admission, with good recovery of his hemoglobin level, and no further hemorrhage or abdominal pain. CONCLUSION This case of spontaneous rupture of a dissecting aneurysm in the peripheral blood supply strongly suggests the involvement of multiple blood vessel abnormalities in neurofibromatosis type 1. Patients with neurofibromatosis type 1 should undergo regular review given their overall health and the risk of fatality in vasculopathy associated with this disease.