Retroperitoneal Manifestations of Type 1 Neurofibromatosis: A Case Report

Abstract

Type 1 neurofibromatosis (NF1) is a common autosomal dominant genetic disorder characterized by various manifestations, including plexiform neurofibromas; retroperitoneal involvement is rare but can complicate diagnosis and management. We report the case of a 42-year-old man presenting with pelvic pain and a left gluteal mass. Clinical examination revealed café-au-lait macules, cutaneous nodules, and Lisch nodules, and imaging showed nodular formations surrounding the bladder and rectum; a biopsy confirmed the presence of benign plexiform neurofibromas. Retroperitoneal neurofibromas in NF1 have an incidence of 1 to 3% and are often asymptomatic, although their growth may lead to local compression and clinical symptoms; identification through imaging and histological confirmation are essential for guiding management, which is often limited to monitoring and symptomatic treatment. NF1 is a disease with diverse manifestations requiring regular follow-up, and although rare, retroperitoneal neurofibromas play a diagnostic role and necessitate appropriate management.