Mesenteric neurofibromatosis complicated by acute appendicitis: case report and review of the literature

Background: Mesenteric neurofibromatosis, a rare complication of neurofibromatosis type 1 (NF-1), comprises benign plexiform neurofibromas with recognized potential for malignant transformation. These lesions are frequently asymptomatic and diagnostically elusive, mimicking more common gastrointestinal pathologies. We report the incidental intraoperative discovery of mesenteric neurofibromatosis during surgery for acute appendicitis in an NF-1 patient, a presentation scarcely documented previously. This case highlights the occult nature of gastrointestinal involvement in NF-1 and underscores the critical need for systematic imaging surveillance to enable early detection and intervention. Case presentation: A 17-year-old female presented with a one-week history of right lower quadrant pain. An abdominal CT scan was consistent with acute appendicitis. Physical examination revealed numerous café-au-lait macules, and a significant family history confirmed a concurrent diagnosis of neurofibromatosis type 1 (NF-1). During a scheduled laparoscopic appendectomy, diffuse nodular lesions were incidentally discovered throughout the small bowel mesentery. Histopathological analysis of a biopsied lesion confirmed mesenteric neurofibromatosis. The patient had an uncomplicated postoperative recovery and remained asymptomatic at three-month follow-up. Conclusion: These findings underscore the necessity for imaging-based screening to detect gastrointestinal lesions early in patients with neurofibromatosis type 1 (NF-1). Heightened awareness of the potential presence of mesenteric neurofibromatosis, a rare manifestation of NF-1, is particularly warranted in the surgical setting when abdominal procedures are indicated for these patients.