Solitary rectal neurofibroma in von Recklinghausen’s disease

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2007 (EN)
Solitary rectal neurofibroma in von Recklinghausen’s disease (EN)

Sevasti Kamina, D.J. Papachristou I. Georgiou, K. Massalas, G. V. Tsianos, E.V. Tsianos, K.H. Katsanos, M. Economou, Mar. Syrrou,

Gastrointestinal involvement in von Recklinghausen disease (NF-1) is quite frequent but forms restricted to the colon are exceptional. A 36-year-old woman with von Recklinghausen disease (NF-1) presented at the outpatient gastroenterology clininc complaining of recurrent episodes of abdominal pain. The patient had one child, who was also diagnosed with von Recklinghausen disease with similar café au lait spots in a similar location to those of her mother. Genetic linkage analysis and identification of haplotypes in mother and child showed that the abnormal haplotype was 3-1-8 and that the 53ab/nf-ex 38 was the only polymorphism that could discriminate the normal from abnormal haplotype in this family. Colonoscopy revealed only a lean lesion of 2cm in diameter in the rectal mucosa. Furthermore, upper gastrointestinal tract endoscopy, enteroclysis and abdominal computed tomography were negative. Rectal biopsies were compatible with rectal solitary neurofibroma. The patient, as well as her children, was advised to follow a certain surveillance protocol. This case of solitary rectal neurofibroma may represent either the prelude to many intestinal neurofibromas which will appear in this patient or it may simply represent a distinct phenotype of colonic involvement within the NF-1 gene. Key words: von Recklinghausen’s disease, NF-1, intestinal neurofibromas, neurofibromatosis, bowel, colon. (EN)




Hellenic Society of Gastroenterology (EN)

Annals of Gastroenterology; Volume 18, No 1 (2005) (EN)

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