Appendiceal neurofibroma and diverticula in a neurofibromatosis type 1 patient with chronic right lower quadrant pain

Abstract

Neurofibromatosis type 1 (NF1, Von Recklinghausen disease) is an autosomal dominant disease with a birth incidence of 1/2500–3000. The most common presentations of NF1 are cutaneous presentations like café-au-lait spots and neurofibromas. 5%–25% of patients with NF1 have gastrointestinal manifestations of the disease. Appendiceal neurofibroma are extremely rare and only a few cases are described in literature. An appendectomy is indicated because of high risk of appendicitis and malignant transformation. We report the case of a 74-year-old male patient with a history of NF1 with chronic right lower quadrant pain. Successive imaging scans showed suspicion of chronic appendicitis. A diagnostic laparoscopy, resulting in a laparoscopic appendectomy was performed without complications. Histopathology showed appendiceal neurofibroma and diverticula. The postoperative course was uneventful. In patients with NF1 with right lower quadrant pain benign appendiceal neurofibroma should be included in the differential diagnosis. A diagnostic laparoscopy should be performed followed by an appendectomy.