Isolated intestinal neurofibromatous proliferations in the absence of associated systemic syndromes

J. Elliot Carter, Javier A. Laurini

Research output: Contribution to journalArticlepeer-review

25 Scopus citations


Gastrointestinal tract involvement by neurofibromatous lesions is rare and occurs most frequently as one of the systemic manifestations of generalized neurofibromatosis type 1 (NF1). In this setting, the lesions may manifest as focal scattered neurofibromas or as an extensive diffuse neural hyperplasia designated ganglioneuromatosis. Occasionally, such lesions may be the initial sign of NF1 in patients without any other clinical manifestations of the disease. Rarely, cases of isolated neurofibromatosis of the large bowel with no prior or subsequent evidence of generalized neurofibromatosis have been documented. We present the case of a 52 year-old female with abdominal pain and alternating bowel habits. Colonoscopic evaluation revealed multiple small polyps in the cecum and the presence of nodular mucosa in the colon and rectum. Pathologic evaluation of the biopsies from the cecum, descending colon, sigmoid colon, and rectum revealed tangled fascicles of spindle cells expanding the lamina propia leading to separation of the intestinal crypts. Immunohistochemical stains helped confirm the diagnosis of diffuse intestinal neurofibromatosis. A thorough clinical evaluation failed to reveal any stigmata of generalized neurofibromatosis. This case represents a rare presentation of isolated intestinal neurofibromatosis in a patient without classic systemic manifestations of generalized neurofibromatosis and highlights the need in such cases for close clinical follow-up to exclude neurofibromatosis type I or multiple endocrine neoplasia type II.

Original languageEnglish (US)
Pages (from-to)6569-6571
Number of pages3
JournalWorld Journal of Gastroenterology
Issue number42
StatePublished - Nov 14 2008
Externally publishedYes


  • Intestinal
  • Isolated
  • Neurofibromatous
  • Proliferations

ASJC Scopus subject areas

  • Gastroenterology


Dive into the research topics of 'Isolated intestinal neurofibromatous proliferations in the absence of associated systemic syndromes'. Together they form a unique fingerprint.

Cite this