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Peutz Jeghers syndrome

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www.thelancet.com Vol 381 February 2, 2013 e5

Clinical Picture

Lancet 2013; 381: e5 Published Online

October 5, 2012 http://dx.doi.org/10.1016/ S0140-6736(12)60830-7

Gastroenterology, Hepatology and Nutrition Unit, Department of Pediatrics

(Prof H Antunes MD, J Nascimento MD) and Department of Gastroenterology

(P Peixoto MD), Braga Hospital, Braga, Portugal; Life and Health Sciences Research Institute (ICVS), School of Health Sciences, University of Minho, Braga, Portugal

(Prof H Antunes); and ICVS/3B’s— PT Government Associate Laboratory, Braga/Guimarães, Portugal

(Prof H Antunes)

Correspondence to: Prof Henedina Antunes, Gastroenterology, Hepatology and Nutrition Unit, Department of Pediatrics, Hospital de Braga Apartado 2056, 4701-901 Braga, Portugal

[email protected]

See Online for videos 1 and 2

Peutz-Jeghers syndrome: capsule endoscopy to stage disease

Henedina Antunes, João Nascimento, Paula Peixoto

A 13-year-old girl with recurrent abdominal pain and rectal bleeding was referred to our department. Her 36-year-old father had been diagnosed with Peutz-Jeghers syndrome (PJS) after previous surgical interventions for intestinal occlusion. On physical examination, she had hyperpigmented macules on her lips and buccal mucosa. Genetic testing showed a mutation in exon 6 of the gene

STK11. A video capsule endoscopy was done to stage the

disease. A 7 mm polyp in the stomach(fi gure A; video 1), and a 12 mm pedunculated polyp in the proximal jejunum, were seen (fi gure B; video 2). Smaller polyps were found sparsely in the jejunum and proximal ileum. Screening and surveil lance is crucial in Peutz-Jeghers syndrome because of the risk of complications related to polyps, and the asso ciation with cancers. Our patient’s case shows the feasibility, security, and sensitivity of use of capsule endoscopy to stage disease.

Figure: Peutz-Jeghers syndrome

Video capsule endoscopy showing (A) pedunculated polyp in the stomach; and (B) pedunculated polyp in the proximal jejunum.

A

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