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13 June 2016 : Case report  USA

Zollinger-Ellison Syndrome Associated with von Recklinghausen Disease: Case Report and Literature Review

Challenging differential diagnosis, Rare disease, Educational Purpose (only if useful for a systematic review or synthesis), Rare coexistence of disease or pathology

Mohamad J. AlshikhoDEF, Salem I. NoureldineDE, Joud M. TalasDE, Antoine NasimianD, Safi ZazouF, Bashir MobaedD, Mahmoud NasserD

DOI: 10.12659/AJCR.898472

Am J Case Rep 2016; 17:398-405

Abstract

BACKGROUND: Pancreatic endocrine tumors (PETs) are rare and can occur as part of neurofibromatosis type 1 (NF1). Gastrinomas are functional PETs that are rarely associated with NF1. Only two cases of their occurrence have been reported in the literature.

CASE REPORT: A 28-year-old woman was admitted for further evaluation of epigastric soreness, heartburn, nausea, vomiting, diarrhea, and a significant weight loss. Physical examination was remarkable for cutaneous findings (axillary freckling and multiple café-au-lait spots) as well as neurofibromas (dermal, plexiform). A diagnosis of NF1 was confirmed. Esophagogastroduodenoscopy (EGD) revealed multiple ulcers in the duodenum and the upper jejunum. A fasting gastrin level exceeded ten times the normal limit. An abdominal multi-slice 128 computed tomography (CT) scan revealed an oval mass of 26 mm in diameter adjacent to the second section of the duodenum. The patient was examined carefully to rule out multiple endocrine neoplasia type 1 (MEN1). Surgical resection was performed and a gastrinoma, causing Zollinger-Ellison syndrome (ZES), was diagnosed by histological examinations of the extirpated mass. The serum gastrin level decreased to normal limits shortly after surgery. Continuous follow-up revealed that the symptoms and the EGD findings completely resolved without recurrences.

CONCLUSIONS: Although NF1 has common skeletal, visual, neurological, and cardiovascular complications, it also has a rare association with duodenal or pancreatic gastrinomas. Vigilance for this possible association is important to promote timely and careful management to help eliminate serious and potentially life-threatening complications.

Keywords: Neurofibromatosis 1 - diagnosis, Zollinger-Ellison Syndrome - diagnosis

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923