Retroperitoneal Plexiform Neurofibroma in Von Recklinghausen Disease

Abstract Neurofibromatosis type 1 is an autosomal dominant condition, also known as von Recklinghausen disease, which may be associated with a variety of benign and malignant intraabdominal manifestations. The most common are neurofibromas of the small bowel or retroperitoneal plexiform neurofibroma (PN), which can cause gastrointestinal obstruction, bleeding, or pain. Fewer than 20 cases of retroperitoneal PN have been reported in the literature. We report a case of a 68-year-old lady who presented with multiple cutaneous neurofibromas and symptomatic retroperitoneal PN, as well as multiple small bowel and omental neurofibromas. The mass was paraspinal in location and fixed to the duodenojejunal flexure and transverse colon, with involvement of the root of the mesentery. Surgical resection is the only option for the management of PN, and these tumors are often difficult to remove due to invasion of adjacent structures or origin from the spinal cord or nerves. Evaluation for malignant transformation, symptom-guided and optimal surgical resection, and close observation for intraabdominal neurofibromatosis is the best practice for these patients.