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


METHODS
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.
Department of Neurology, Massachusetts General Hospital, Harvard University, Boston, MA, USA.
Mohamad J
MJ
Alshikho
Department of Otolaryngology - Head and Neck Surgery, Johns Hopkins University, Baltimore, MD, USA.
Salem I
SI
Noureldine
Department of Dermatology, Aleppo University, Aleppo, Syrian Arab Republic.
Joud M
JM
Talas
Department of Radiology, Aleppo University, Aleppo, Syrian Arab Republic.
Antoine
A
Nasimian
Department of General Internal Medicine, Aleppo University, Aleppo, Syrian Arab Republic.
Safi
S
Zazou
Department of Gastroenterology, Aleppo University, Aleppo, Syrian Arab Republic.
Bashir
B
Mobaed
Department of Gastroenterology, Aleppo University, Aleppo, Syrian Arab Republic.
Mahmoud
M
Nasser
D000328:Adult; D005260:Female; D006801:Humans; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000175:diagnosis; D015043:Zollinger-Ellison Syndrome / Q000150:complications* / Q000175:diagnosis