Imaging Sciences Interesting Cases

Case 151

Daniel T. O'Connor, MD

Clinical Presentation: A 32-year-old female with a history of multiple prior abdominal surgeries secondary to abdominal distention and concerns for obstruction. Presently asymptomatic. Referred from outside hospital.

Imaging Findings: Multiple filling defects of the jejunum, ileum, and cecum. Normal appearing overlying intestinal mucosa with no evidence of ulceration, obstruction, or mass. Normal GI motility. Terminal ileum was normal in appearance. No areas of stricture/narrowing visualized.

Figures 1A & B: Early (A) and later (B) overhead views of the small bowel follow through demonstrate multiple small filling defects (arrows) with normal overlying mucosa and no evidence of ulceration, stricture, or abnormality in motility. Close inspection reveals radiopaque suture lines in the right lower quadrant indicative of prior surgery.

Figures 2A &B: Two separate fluoroscopy spot images demonstrate individual polyps or collections of polyps (arrows), best appreciated with mild compression to silhouette polyp in contrast-filled lumen.

Diagnosis: Peutz-Jegher's syndrome

Discussion: Patient is new to the URMC system with a post-resection biopsy-proven diagnosis of Peutz-Jegher syndrome from an outside hospital. Her history is not unusual; prior admissions for partial small bowel obstructions, feelings of early satiety and abdominal discomfort, and multiple prior small bowel surgeries. Small bowel follow-through study to evaluate for strictures/small bowel narrowing and interval development of additional polyps is the imaging modality of choice, and seemed appropriate for this patient, who had recent worsening of her symptoms.

Presenting complaints/symptoms of the gastrointestinal polyps in Peutz-Jegher syndrome are well characterized. Over 40% of patients present with obstruction secondary to polyp hypertrophy or frank intussusception. Recurrent intussusception is one of the hallmarks of the syndrome, with patients subjected to multiple bowel surgeries, each of which removes more bowel or colon and adds additional scarring and adhesions, perpetuating a vicious cycle of obstructive bowel pathology. Half of Peutz-Jegher patients will experience intussusception during their lifetime.

Other presenting gastrointestinal symptoms in Peutz-Jegher syndrome include abdominal pain secondary to infarction (20%+), acute/chronic rectal bleeding (15%+), and protrusion of hamartomatous polyp through rectum (5%+).

Pigmented macules consisting of melanin-containing macrophages are present in 95%+ of Peutz-Jegher patients, classically on the buccal mucosa (60%), but more often on lips, perioral region, and hands. Buccal lesions persist to adulthood.

In addition to increased risk (approximately 13% lifetime) of gastrointestinal cancer, predominantly in the small bowel, Peutz-Jegher syndrome is associated with increased risk of lung, breast, uterine, ovarian/testicular, and cervical cancers, often of varieties specific to the syndrome. Overall, some series have associated the culminative lifetime risk of malignancy to be over 90%, and, excluding skin cancers, over half of them are outside the gastrointestinal tract.

References:

1. Cho GJ, Bergquist K, Schwartz AM. Peutz-Jeghers syndrome and the hamartomatous polyposis syndromes: radiologic-pathologic correlation. Radiographics. 1997 May-Jun;17(3):785-91. [PubMed]
2. Jeghers H, McKusick VA, Katz KH. Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits; a syndrome of diagnostic significance. N Engl J Med. 1949 Dec 22;241(25):993. [PubMed]; N Engl J Med. 1949 Dec 29;241(26):1031-6. [PubMed]