title: Gastrointestinal stromal tumor in a patient with undiagnosed neurofibromatosis type I: an uncommon cause of extrahepatic cholestasis.
abstract: In this case report we present a 61-year-old patient with obstructive jaundice. Bile duct obstruction was caused by a tumor at the duodenal papilla and bile flow was restored by a plastic stent. Using endoscopic ultrasound and computed tomography imaging two additional tumors of the same morphology were found in the stomach wall and the pelvic region suggesting a multilocular gastrointestinal stroma tumor (GIST). Diagnosis of GIST was confirmed cytologically from the gastric lesion. Based on typical cutaneous manifestations (café-au-lait spots, several tiny dermal neurofibromata and Lisch nodules in the iris), a thus far unidentified neurofibromatosis type I was diagnosed which is known to promote multilocular GIST formation. Tumor resection failed because of cardiac decompensation due to a Takotsubo cardiomyopathy during induction of anesthesia. The patient has been started on imatinib instead and shows so far a stable disease over 6 months.
authors.affiliation: Department of Internal Medicine, Salem Medical Center, University of Heidelberg, Heidelberg, Germany. gunda.millonig@uni-heidelberg.de
authors.forename: G
authors.initials: G
authors.lastname: Millonig
authors.forename: F L
authors.initials: FL
authors.lastname: Giesel
authors.forename: F M
authors.initials: FM
authors.lastname: Reimann
authors.forename: T
authors.initials: T
authors.lastname: Topalidis
authors.forename: H K
authors.initials: HK
authors.lastname: Seitz
authors.forename: S
authors.initials: S
authors.lastname: Mueller
mesh_terms: D001651:Cholestasis, Extrahepatic / Q000175:diagnosis* / Q000209:etiology*; D003937:Diagnosis, Differential; D005188:False Negative Reactions; D046152:Gastrointestinal Stromal Tumors / Q000150:complications* / Q000175:diagnosis*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000175:diagnosis*