Zollinger-Ellison syndrome associated with neurofibromatosis type 1: a case report.
BACKGROUND
Neurofibromatosis type 1 is an autosomal dominant neurocutaneous disorder with characteristic features of skin and central nervous system involvement. Gastrointestinal involvement is rare, but the risk of malignancy development is considerable. Zollinger-Ellison syndrome is caused by gastrin-secreting tumors called gastrinomas. Correct diagnosis is often difficult, and curative treatment can only be achieved surgically.


METHODS
A 41-year-old female affected by neurofibromatosis type 1 presented with a history of recurrent epigastric soreness, diarrhea, and relapsing chronic duodenal ulcer. Her serum fasting gastrin level was over 1000 pg/mL. An abdominal CT scan revealed a 3 x 2-cm, well-enhanced mass adjacent to the duodenal loop. She was not associated with multiple endocrine neoplasia type 1. Operative resection was performed and gastrinoma was diagnosed by immunohistochemical staining. The serum gastrin level decreased to 99.1 pg/mL after surgery, and symptoms and endoscopic findings completely resolved without recurrences.


CONCLUSIONS
Gastrinoma is difficult to detect even in the general population, and hence symptoms such as recurrent idiopathic peptic ulcer and diarrhea in neurofibromatosis type 1 patients should be accounted for as possibly contributing to Zollinger-Ellison syndrome.
Lee
Wan-Sik
WS
Division of Gastroenterology, Department of Internal Medicine, Chonnam University Medical School, Hak-dong 8, Donggu, Gwangju, Korea. jadelook@chol.com
Koh
Yang-Seok
YS
Kim
Jung-Chul
JC
Park
Chang-Hwan
CH
Joo
Young-Eun
YE
Kim
Hyun-Soo
HS
Cho
Chol-Kyoon
CK
Choi
Sung-Kyu
SK
Rew
Jong-Sun
JS
Kim
Sei-Jong
SJ
D000328:Adult; D001706:Biopsy; D004724:Endoscopy; D005260:Female; D015408:Gastrinoma / Q000150:complications / Q000175:diagnosis; D005755:Gastrins / Q000096:biosynthesis / Q000097:blood; D006801:Humans; D007150:Immunohistochemistry; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000175:diagnosis* / Q000601:surgery; D019009:Proto-Oncogene Proteins c-kit / Q000096:biosynthesis; D014057:Tomography, X-Ray Computed; D016896:Treatment Outcome; D015043:Zollinger-Ellison Syndrome / Q000150:complications* / Q000175:diagnosis* / Q000601:surgery
D005755:Gastrins; D019009:Proto-Oncogene Proteins c-kit