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- Peutz-Jeghers syndrome
- hamartoma
- intestinal obstruction
- STK11 gene
- intestinal polyposis
- biliary obstruction
- enteroscopy
- Feutz-Jegher syndrome
- intestinal obstruction
- polyposis
Clinical presentation
A 38-year-old Caucasian male patient was referred to our emergency department with typical biliary colic. Medical and family history were unremarkable. Physical examination revealed a non-feverish mildly ill patient, with normal bowel sounds. In addition a remarkably ‘freckled’ skin was found, especially on periorbital and perioral skin and buccal mucosa (figure 1). Apart from abnormal liver enzymes (bilirubin 1.35 mg/dl, gamma-glutamyltransferase 1049 IU/l and alanine aminotransferase 286 IU/l) laboratory tests were normal. Abdominal ultrasonography showed dilated intra- and extrahepatic bile ducts and cholecystolithiasis but no signs of choledocholithiasis. An endoscopic retrograde cholangiopancreatography was performed because of presumed choledocholithiasis, but common bile duct cannulation was unsuccessful because of a large polypoid mass at its insertion (figure 2). During endoscopy multiple smaller polyps were seen in duodenum and stomach. Following endoscopic retrograde cholangiopancreatography …
Footnotes
Competing interests None.
Patient consent Obtained.
Provenance and peer review Not commissioned; externally peer reviewed.