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Intestinal plexiform neurofibromas
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Digestive and Liver Disease 40 (2008) 578
Image of the Month
Intestinal plexiform neurofibromas L. Calligaris a,b , F. Marchetti a,b,∗ , A. Ventura a,b b
a Department of Pediatrics, Children’s Hospital IRCCS Burlo Garofolo, Trieste, Italy Department of Reproductive and Developmental Sciences, University of Trieste, Trieste, Italy
Received 17 October 2007; accepted 13 December 2007 Available online 21 February 2008
A 6-year-old girl affected by type-1 neurofibromatosis (NF1) presented with 1-month history of isolated abdominal pain. Physical examination revealed a palpable mass in the lower right abdominal section. Laboratory data were all normal. An abdominal ultrasound scan revealed a thickened wall of the last ileal loop and, under the liver, an image suggestive of a chronic intestinal intussusception. The CT-scan with contrast showed a middle-density mass (5 cm × 10 cm) enclosing dilated and congested mesenteric vessels and a thickened wall of the last ileal loop with ileocecal valve intussusception in to the cecum (Fig. 1). Hystopathologic study revealed enlarged, myxoid appearing nerve trunks with proliferations of neurites and Schwann cells situated in a pale-staining stroma, allowing the diagnosis of plexiform neurofibromatosis involving the mesentery and bowel. In our case complete surgical excision was impossible and a treatment with thalidomide was started. NF1 is a genetic condition with a minimum prevalence of one in 4–5000 [1]. The most distinctive clinical features are multiple peripheral neurofibromas and coetaneous pigmentation. Involvement of the gastrointestinal tract affect approximately 25% of patients but lesions are symptomatic in less than 5% [2]. Plexiform neurofibromas, which are uncommon but are pathognomonic of NF1, diffusely infiltrate the layers of the gut wall and mesentery [2]. Intestinal plexiform neurofibromas may present with ulceration, bleeding, intestinal obstruction, and rarely, intussusception, volvulus, and perforation. Intestinal vascular and lymphatic obstruction may result in bowel oedema, loss of protein and hypoproteinemia [3]. ∗ Corresponding author at: Department of Pediatrics, Institute of Child Health, IRCCS Burlo Garofolo, Via dell’Istria 65/1, 34137 Trieste, Italy. Tel.: +39 040 3785454; fax: +39 040 3785362. E-mail address: [email protected] (F. Marchetti).
Complete surgical excision is seldom possible. Some authors suggested that thalidomide might have a role in the management of plexiform neurofibroma in NF-1 [3].
References [1] Ferner RE. Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective. Lancet Neurol 2007;6:340–51. [2] Leslie A, Virjee JP, Moorghen M. Plexiform neurofibroma of the small bowel infiltrated with metastatic adenocarcinoma. Br J Radiol 1999;72:604–6. [3] Park J. Mesenteric Plexiform Neurofibroma in a 11-year-old boy with von Recklinghausen disease. J Pediatr Surg 2007;42:E15–8.
1590-8658/$30 © 2007 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved. doi:10.1016/j.dld.2007.12.013
Digestive and Liver Disease 40 (2008) 578
Image of the Month
Intestinal plexiform neurofibromas L. Calligaris a,b , F. Marchetti a,b,∗ , A. Ventura a,b b
a Department of Pediatrics, Children’s Hospital IRCCS Burlo Garofolo, Trieste, Italy Department of Reproductive and Developmental Sciences, University of Trieste, Trieste, Italy
Received 17 October 2007; accepted 13 December 2007 Available online 21 February 2008
A 6-year-old girl affected by type-1 neurofibromatosis (NF1) presented with 1-month history of isolated abdominal pain. Physical examination revealed a palpable mass in the lower right abdominal section. Laboratory data were all normal. An abdominal ultrasound scan revealed a thickened wall of the last ileal loop and, under the liver, an image suggestive of a chronic intestinal intussusception. The CT-scan with contrast showed a middle-density mass (5 cm × 10 cm) enclosing dilated and congested mesenteric vessels and a thickened wall of the last ileal loop with ileocecal valve intussusception in to the cecum (Fig. 1). Hystopathologic study revealed enlarged, myxoid appearing nerve trunks with proliferations of neurites and Schwann cells situated in a pale-staining stroma, allowing the diagnosis of plexiform neurofibromatosis involving the mesentery and bowel. In our case complete surgical excision was impossible and a treatment with thalidomide was started. NF1 is a genetic condition with a minimum prevalence of one in 4–5000 [1]. The most distinctive clinical features are multiple peripheral neurofibromas and coetaneous pigmentation. Involvement of the gastrointestinal tract affect approximately 25% of patients but lesions are symptomatic in less than 5% [2]. Plexiform neurofibromas, which are uncommon but are pathognomonic of NF1, diffusely infiltrate the layers of the gut wall and mesentery [2]. Intestinal plexiform neurofibromas may present with ulceration, bleeding, intestinal obstruction, and rarely, intussusception, volvulus, and perforation. Intestinal vascular and lymphatic obstruction may result in bowel oedema, loss of protein and hypoproteinemia [3]. ∗ Corresponding author at: Department of Pediatrics, Institute of Child Health, IRCCS Burlo Garofolo, Via dell’Istria 65/1, 34137 Trieste, Italy. Tel.: +39 040 3785454; fax: +39 040 3785362. E-mail address: [email protected] (F. Marchetti).
Complete surgical excision is seldom possible. Some authors suggested that thalidomide might have a role in the management of plexiform neurofibroma in NF-1 [3].
References [1] Ferner RE. Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective. Lancet Neurol 2007;6:340–51. [2] Leslie A, Virjee JP, Moorghen M. Plexiform neurofibroma of the small bowel infiltrated with metastatic adenocarcinoma. Br J Radiol 1999;72:604–6. [3] Park J. Mesenteric Plexiform Neurofibroma in a 11-year-old boy with von Recklinghausen disease. J Pediatr Surg 2007;42:E15–8.
1590-8658/$30 © 2007 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved. doi:10.1016/j.dld.2007.12.013