The n e w e ng l a n d j o u r na l
Images in Clinical Medicine
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Shreya Sengupta, M.B., B.S.
Sayantan Bose, M.B., B.S.
R.G. Kar Medical College and Hospital
Kolkata, India
shreya.95edcn@gmail.com
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Copyright © 2019 Massachusetts Medical Society. All rights reserved.
of m e dic i n e
Chana A. Sacks, M.D., Editor
Peutz–Jeghers Syndrome
C
A
45-year-old man presented to the emergency department with
sudden-onset abdominal pain and vomiting. On physical examination, his
abdomen was diffusely tender, and he had hyperpigmented macules on the
lips, oral mucosa, and nose (Panel A). His two sons had previously presented with
abdominal pain due to intussusception and had undergone bowel resection. A com-
puted tomographic scan of the patient’s abdomen showed a target sign (Panel B,
arrow), which is characteristic of intussusception. Emergency laparotomy con-
firmed the presence of jejunojejunal intussusception with areas of necrosis. Mul-
tiple polyps were palpated throughout this section of the bowel. Because of the
necrosis and concern about recurrence, the length of jejunum that contained
polyps was resected (Panel C), and end-to-end anastomosis was performed. Histo-
pathological evaluation of the resected segment revealed multiple hamartomatous
polyps. On the basis of the mucocutaneous hyperpigmentation, multiple hamar-
tomatous polyps in the gastrointestinal tract, and family history, a diagnosis of
the Peutz–Jeghers syndrome was made. This autosomal dominant disorder is associ-
ated with an increased risk of gastrointestinal and extraintestinal cancers. The
patient recovered well after the surgery and has undergone appropriate cancer-
screening tests, which have been negative to date.
DOI: 10.1056/NEJMicm1806623
Copyright © 2019 Massachusetts Medical Society.
n engl j med 380;5 nejm.org January 31, 2019
The New England Journal of Medicine