A Patient with Colonic Neurofibroma Causing Iron Deficiency Anemia

Abstract

Colonic Neurofibromatosis is an uncommon lesion found during colonoscopy. We report a case of a single colonic neurofibromatous polyp in a patient with recurrent iron deficiency anemia. Patient Details: A 48 year old white female with Neurofibromatosis I was admitted with syncope, recurrent gastrointestinal bleeding and iron deficiency anemia. Upper endoscopy and small bowel series were normal. After an adequate bowel prep, colonoscopic examination showed a 6 mm ascending colon polyp. With the resection of the colonic lesion, patient's anemia resolved. Histopathological examination of the polyp was positive for S100 staining (Figure 1) indicative of neural origin and staining for smooth muscle actin was negative (Figure 2) consistent with a histological diagnosis of Colonic Neurofibroma.Figure 1Figure 2Discussion: Neurofibromatosis I is an autosomal dominant neurocutaneous disease occurring in approximately1 in 2500 live births. The small intestine and stomach are the usual sites of involvement in the gastrointestinal tract.The clinical picture includes abdominal pain, palpable masses, hemorrhage due to necrosis or ulceration of the mucosa or obstruction due to intussusception. Colonic Neurofibromas are rare. The colonic lesions are often sessile and wide based but also pedunculated polyps have also been observed. Colonic Neurofibromas are rare, usually seen in patients with type 1 Neurofibromatosis. Immunohistochemical stains are positive for vimentin and S-100 protein but negative for desmin, smooth muscle actin, c-kit and CD34. Our patient represents a rare case of colonic neurofibroma causing iron deficiency anemia. [figure 1][figure 2]