A 26-year-old woman, without a family history of neurofibromatosis type 1, was admitted with abdominal pain, unexplained anaemia, diarrhea, and malabsorption. Skin examination revealed multiple cutaneous neurofibromas and cafè-au-lait spots on the upper extremities and trunk; 5 neurofibromas were excised. EGD and colonoscopy were unremarkable, but a radiologic small-bowel series showed multiple intraluminal protruding masses in the jejunum and the ileum. Capsule endoscopy found some polypoid lesions and a white-tipped villous pattern of the mucosa consistent with intestinal lymphangiectasia in the proximal jejunum (A); in the distal jejunum and the mid ileum, capsule endoscopy demonstrated the presence of 10 sessile (B) and pedunculated polypoid lesions (range, 2-5 cm) (C), surrounded by hypertrophied plicae with a digit-like, sea-anemone–like appearance (D). At laparotomy, several nodules were seen on the surface of the small bowel, of which, 4 yellowish serosal nodules from the jejunum and 4 polyps were excised. On microscopic examination, the lesions were composed of bland spindle cells set within the muscle wall without necrosis, mitotic figures, or pleomorphism; these features were of benign GI stromal tumor (E, Immunohistochemistry stain, orig. mag. ×100). There were no postoperative complications, and the patient was discharged 8 days later. She was well and without recurrence 6 months after the operation.

Capsule endoscopy revealing small-intestinal lymphangiectasia and GI stromal tumor polyps in neurofibromatosis type 1.

CALABRESE, CARLO;PIRONI, LORIS;DI FEBO, GIULIO
2006

Abstract

A 26-year-old woman, without a family history of neurofibromatosis type 1, was admitted with abdominal pain, unexplained anaemia, diarrhea, and malabsorption. Skin examination revealed multiple cutaneous neurofibromas and cafè-au-lait spots on the upper extremities and trunk; 5 neurofibromas were excised. EGD and colonoscopy were unremarkable, but a radiologic small-bowel series showed multiple intraluminal protruding masses in the jejunum and the ileum. Capsule endoscopy found some polypoid lesions and a white-tipped villous pattern of the mucosa consistent with intestinal lymphangiectasia in the proximal jejunum (A); in the distal jejunum and the mid ileum, capsule endoscopy demonstrated the presence of 10 sessile (B) and pedunculated polypoid lesions (range, 2-5 cm) (C), surrounded by hypertrophied plicae with a digit-like, sea-anemone–like appearance (D). At laparotomy, several nodules were seen on the surface of the small bowel, of which, 4 yellowish serosal nodules from the jejunum and 4 polyps were excised. On microscopic examination, the lesions were composed of bland spindle cells set within the muscle wall without necrosis, mitotic figures, or pleomorphism; these features were of benign GI stromal tumor (E, Immunohistochemistry stain, orig. mag. ×100). There were no postoperative complications, and the patient was discharged 8 days later. She was well and without recurrence 6 months after the operation.
C. Calabrese; L. Pironi; G. Di Febo
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11585/31867
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