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Journal of Medical Cases

Case Report

Volume 2, Number 6, December 2011, pages 265-267

Endoscopic Polypectomy Using Double-balloon Enteroscopy is Useful for the Treatment of Peutz-Jeghers Syndrome Even in Children

Peutz-Jeghers syndrome (PJS) is an autosomal dominant inherited disease, characterized by multiple gastointestinal (GI) hamartomatous polyps and mucocutaneous pigmentation [1, 2]. To date, patients suffering from this condition have had to undergo frequent laparotomies because of intestinal obstruction by small intestinal polyps. Double-balloon enteroscopy (DBE) is now a useful device for the diagnosis and treatment of small intestinal diseases [3]. Some studies have demonstrated successful endoscopic treatment of small intestinal polyps in adults with PJS [4-7]. We now report a successful use of DBE in the case of small intestinal polypectomy performed on an 11-year-old female child with PJS, and do not expect her to have to undergo unnecessary laparotomies in the future.

An 11-year-old female child visited our hospital because of iron-deficient anemia (Hb 8.4 g/dL, MCV 60.8 fl) and frequent abdominal pain after meals. Her grandfather and mother had previously been diagnosed as PJS and have received laparotomies previously for intussusception of small intestinal polyps. Recently, her mother underwent small intestinal polypectomy using DBE in our hospital. The child, however, had no past history although she had pigmentation on her lips and toes, suggesting PJS (Fig. 1).

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Figure 1. Pigmentation on the lips and the oral mucosa.

Initially, we performed endoscopic polypectomy for colorectal polyps, using intravenous analgesics (pentazocine 15 mg and hydroxyzine 25 mg). Three polyps were resected, the largest being 2 cm in size. The pathology was compatible with PJ-type polyps. Two weeks later, the patient underwent oral DBE after obtaining informed consent. We performed DBE carefully in the same manner as we would for an adult, except under general anesthesia. Many polyps were found in the jejunum, the largest 3 cm in size (Fig. 2). Almost all the polyps were pedunculated, and 10 polyps were removed. In view of the low rates of carcinomatous change of PJ-type polyps [8], we retrieved only 2 large polyps in order to obtain pathological samples. The pathology revealed that these polyps were compatible with the PJ-type polyps, and had no adenomatous or carcinomatous components (Fig. 3). Although small polyps remained in the ileum, patient’s family did not want removal at that time. She was well after the polypectomy and discharged 6 days later.

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Figure 2. Removal of the polyp in the jejunum using DBE.

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Figure 3. Pathology of the resected polyp. The polyp was compatible with the PJ-type and no adenomatous or carcinomatous components were found.

One of the characteristic features of PJS is many GI polyps, particurally in the jejunum and the ileum [1, 2]. Since there were no therapeutic strategies for PJS except surgery prior to the advent of DBE, frequent laparotomies were needed. Pathologically, PJ-type polyps are mostly hamartomatous, and those less than 3 cm in size have a low risk of carcinomatous changes [8]. If the polyps are resected without laparotomies, patients appear to have no need of surgery.

DBE is now available for the diagnosis and treatment of small intestinal diseases [3]. Some studies have revealed that DBE is useful to PJS, but primarily for adults [4-7]. However, it is sometimes necessary for children to undergo surgery. To date, only several children have underwent polypectomy using DBE [9]. In an infant, perforation was reported due to adhesion after polypectomy. PJS in children is associated with a high recurrence rate of small intestinal polyps in short-term follow-ups [10]. In our patient, 2 years after the first polypectomy mentioned above, we performed polypectomy safely from the anus with DBE. She appeared to have no abdominal adhesion. Our patient is approximately 140 cm in height and 47 kg in weight, which are within the mean ± 2 SD of Japanese children of the same age. In cases in which adhesion occurs following laparotomies, we often experience difficulty in inserting the scope into the small intestine. In such conditions, it is preferable to perform DBE in patients with PJS prior to surgery. The present case reveals that repeated polypectomy with DBE is safe and useful for PJS, even in children.

By perfoming repeated polypectomy with DBE, we expect that in the future there will no longer be a need for unnecessary laparotomies in case of PJS.

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Journal of Medical Cases is published by Elmer Press Inc.