Intestinal plexiform neurofibromas

Abstract

a m A 6-year-old girl affected by type-1 neurofibromatosis NF1) presented with 1-month history of isolated abdominal ain. Physical examination revealed a palpable mass in the loer right abdominal section. Laboratory data were all normal. An abdominal ultrasound scan revealed a thickened wall f the last ileal loop and, under the liver, an image suggestive f a chronic intestinal intussusception. The CT-scan with contrast showed a middle-density mass 5 cm× 10 cm) enclosing dilated and congested mesenteric essels and a thickened wall of the last ileal loop with ileoecal valve intussusception in to the cecum (Fig. 1). Hystopathologic study revealed enlarged, myxoid appearng nerve trunks with proliferations of neurites and Schwann ells situated in a pale-staining stroma, allowing the diagnois of plexiform neurofibromatosis involving the mesentery nd bowel. In our case complete surgical excision was impossible and treatment with thalidomide was started. NF1 is a genetic condition with a minimum prevalence f one in 4–5000 [1]. The most distinctive clinical features re multiple peripheral neurofibromas and coetaneous pigentation. Involvement of the gastrointestinal tract affect pproximately 25% of patients but lesions are symptomatic in ess than 5% [2]. Plexiform neurofibromas, which are uncomon but are pathognomonic of NF1, diffusely infiltrate the ayers of the gut wall and mesentery [2]. Intestinal plexiform neurofibromas may present with lceration, bleeding, intestinal obstruction, and rarely, intususception, volvulus, and perforation. Intestinal vascular and ymphatic obstruction may result in bowel oedema, loss of rotein and hypoproteinemia [3].