Pigmentation tends to arise in infancy, occurring around the mouth, nostrils, perianal area, fingers and toes, and the dorsal and volar aspects of hands and feet (Figure 1). They may fade after puberty but tend to persist in the buccal mucosa. The primary concern to the paediatrician is the risk of small bowel intussusception causing intestinal obstruction, vomiting, and pain. In addition, intestinal bleeding leading to anaemia can occur.

Figure

Figure 1. Melanotic macules on the lips of an adolescent with Peutz-Jeghers syndrome.

The management of a young child with mid-gut PJS polyps is controversial. In a retrospective review, 68% of children had undergone a laparotomy for bowel obstruction by the age of 18 years, and many of these proceeded to a second laparotomy within 5 years (1). There is a high re-operation rate after initial laparotomy for small bowel obstruction.

Children who present with mid-gut complications need polypectomy either by double balloon enteroscopy, or laparotomy and intraoperative enteroscopy (IOE) (Figure 2). The latter is recommended in any patient with PJS undergoing laparotomy, as careful endoscopy via an enterotomy in the small bowel allows identification and removal of polyps, thus avoiding multiple enterotomies and the risk of short bowel syndrome associated with resection. This technique is superior to palpation and transillumination in identifying polyps, and removal of all detected polyps (‘clean sweep’) reduces relaparotomy rate significantly (2, 3).

Figure

Figure 2. Interoperative endoscopy. The endoscope is being inserted through an incision into the small intestine.

DBE with polypectomy of PJS polyps in the small bowel in children carries a significant risk of perforation and should be performed only by those expert in polypectomy. Muscularis mucosa commonly invaginates into the large pedunculated stalk increasing the risk of perforation at electrocautery (Figure 3). DBE can be combined with laparoscopy to assess perforations that may arise at polypectomy.

Figure

Figure 3. Low power photomicrograph of a Peutz-Jeghers syndrome polyp showing invagination of the muscularis mucosa into the stalk of the polyp.

Endoscopic evaluation of the upper and lower gastrointestinal tract and imaging of the small bowel should be performed from the age of 8 years. If symptoms are present before the age of 8 years, screening should start earlier. The development of video capsule endoscopy (VCE) has replaced the barium enterography as the preferred technique for assessing the small bowel (4). VCE is more sensitive, preferred by patients, and reduces the lifetime risk from cumulative radiation exposure. Children < 6 years may require the VCE to be placed endoscopically, and the risk of capsule retention is <1%. Careful selection of patients for VCE will help reduce the risk of retention and in those where a concern remains, a patency capsule can be used pre VCE. An acceptable alternative to VCE is MRI enterography with a close correlation between the 2 modalities, especially with polyps >15mm.

The advantages and disadvantages of prophylactic polypectomy for asymptomatic children should be discussed with the family. Management is influenced by the size of the polyps and their location (Figure 4). Prophylactic polypectomy of larger small bowel polyps (>1.5cms) by intra-operative or double balloon enteroscopy should be performed in order to reduce the incidence of subsequent complications and the requirement for emergency laparotomy. Large duodenal polyps may be resected by polypectomy but if massive or with a broad base may require laparotomy (Figure 5). For children who are asymptomatic with small polyps (< 1.0cm), the parents should be counselled about the risk of intussusception but present consensus would be not to remove these polyps but reassess in 2-3 years by VCE or endoscopy.

Figure

Figure 4. Management protocol for screening children and adolescents at risk of Peutz-Jeghers syndrome.

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Figure 5. Large duodenal polyp in a youngster with Peutz-Jeghers syndrome.

1.

Hinds R, Philp C, Hyer W. et al. Complications of childhood Peutz Jeghers syndrome: implications for pediatric screening. JPGN. 2004;39:219–20. [PubMed: 15269641]

2.

Spigelman AD, Thomson JPS, Phillips RKS. Towards reducing the relaparotomy rate in Peutz Jeghers syndrome : the role of a peroperative small bowel endoscopy. Br J Surg. 1990;77:301–2. [PubMed: 2322793]

3.

Pennazio M, Rossini FP. Small bowel polyps in Peutz-Jeghers syndrome: management by combined push enteroscopy and intraoperative enteroscopy. Gastrointestinal endoscopy. 2000;51:304–8. [PubMed: 10699775]

4.

Postgate A, Hyer W, Phillips R. Feasibility of video capsule endoscopy in the management of children with Peutz jeghers syndrome. JPGN. 2009;49:1–7. [PubMed: 19502995]