Solitary rectal neurofibroma in von Recklinghausen’s disease
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.