[Vasoactive intestinal polypeptide-secreting diffuse ganglioneuromatosis affecting the small intestine and the colon in an infant: an exceptional inaugural manifestation of NF1].
Diffuse ganglioneuromatosis of the digestive tract is a rare condition, especially in children. It is frequently associated with multiple endocrine neoplasia type 2b and less commonly with neurofibromatosis type 1 (NF1). We report the case of an 8-month-old baby presenting with vasoactive intestinal polypeptide (VIP)-secreting diffuse ganglioneuromatosis affecting the small intestine and the colon and responsible for severe hydric diarrhea. Postoperatively the infant's symptoms resolved and the serum VIP level was normal. NF1 was clinically suspected and then confirmed through genetic testing. Two years later, the child developed an optic pathway glioma, another tumor frequently associated with NF1.
Service d'anatomie pathologique et de neuropathologie, hôpital Timone-Adultes, Assistance publique-Hôpitaux de Marseille, 264, rue Saint-Pierre, 13005 Marseille, France.
Malik
M
Kadri
Alexandre
A
Fabre
Carole
C
Coze
Laurent
L
Daniel
Philippe
P
Petit
Sabine
S
Sigaudy
Stéphane
S
Pinson
Corinne
C
Bouvier
Arnauld
A
Delarue
Carla
C
Fernandez
D002430:Cecal Neoplasms / Q000209:etiology* / Q000378:metabolism*; D003110:Colonic Neoplasms / Q000209:etiology* / Q000378:metabolism*; D005729:Ganglioneuroma / Q000378:metabolism*; D006801:Humans; D007078:Ileal Neoplasms / Q000209:etiology* / Q000378:metabolism*; D007223:Infant; D008297:Male; D009378:Neoplasms, Multiple Primary / Q000209:etiology* / Q000378:metabolism*; D009456:Neurofibromatosis 1 / Q000150:complications*; D014660:Vasoactive Intestinal Peptide / Q000378:metabolism*
D014660:Vasoactive Intestinal Peptide