Unusual manifestations of Peutz-Jegher's syndrome in children

Abstract

PeutzJegher's syndrome (PJS) is a rare, autosomal dominant disease, characterized by gastrointestinal (GI) polyps and perioral hyperpigmentation along with the increased risk of certain malignancies. In children, the most common presentation is recurrent intussusception due to polyps. These polyps can involve any part of the GI tract and can present with a variety of clinical presentations. Usually, these polyps can be removed endoscopically but often require surgical excision also. In this report, we discuss two children of PJS with uncommon presentations, one presented with retrograde intussusception and another with gastric outlet obstruction. The first child underwent laparoscopy and another required open surgery with intraoperative enteroscopy.

INTRODUCTION

Peutz-Jegher's syndrome (PJS) is a rare disorder with an incidence of 1/8300 to 1/280,000 individuals.[1] Its characteristic features are multiple polyps in the small bowel and lentiginosis of the oral cavity.[1] In children, the small bowel intussusception is a common presentation of PJS, but retrograde intussusception (RI) is unusual. Similarly, PJS polyps that cause gastric outlet obstruction (GOO) in children is also rare. Here, we describe two unusual cases of PJS, one presented with RI and another with GOO.

CASE REPORT

Case 1

An 11-year-old female child presented with complaints of intermittent, colicky abdominal pain for 2 years, which was mild to moderate in severity. There was aggravation of symptoms in the past 2 months along with vomiting and abdominal distension. On clinical examination, the child was anemic and had hyperpigmented macules over the lower lip [Figure 1a] and toes. A mobile elongated soft-to-firm mass was palpable on the left side of the abdomen. A contrast upper gastrointestinal (GI) study and computerized tomography (CT) scan of the abdomen [Figure 1b] were already done previously and showed multiple polypoidal lesions in the second part of the duodenum and jejunum. Ultrasound of the abdomen was done at our institute and showed small bowel intussusception with hyperechoic mass as a lead point. At laparoscopy, a long retrograde jejunoduodenal intussusception (RI) was noted [Figure 1c]. The reduction was done completely through laparoscopy although it was difficult as the proximal extension was up to the duodenum. Two large polyps, [Figure 1d] both in the jejunum, were excised by enterotomy through a small extension of the umbilical port. The postoperative period was uneventful. The histopathological examination was suggestive of PJ polyps. At the last follow-up, the child was asymptomatic, accepting food well, and under regular endoscopy.

Figure 1.

The clinical picture of mucocutaneous pigmentation over the lower lip (A), computerized tomography scan image showing polyps in the jejunum (B), laparoscopy image (C) of retrograde intussusception of distal jejunum (d) into proximal jejunum (P) and resected polyps (D) from the jejunum (a) and duodenojejunal junction (b)

Case 2

An 11-year-old female child presented with complaints of feed intolerance, nonbilious vomiting, and hematemesis for the past 3 years and required multiple blood transfusions. On examination, the child was anemic and had mucocutaneous pigmentation around the oral cavity [Figure 2a]. The CT scan was done which was suggestive of heterogeneously enhancing circumferential mural thickening involving the pylorus. Upper GI endoscopy (UGIE) showed large polypoidal growth involving the anterior and posterior wall of the stomach, extending till the pyloric region led to luminal stenosis, and so, the scope could not be negotiated further [Figure 2b]. Polyp could not be removed endoscopically as it was a large and broad base, so a biopsy was done which was suggestive of a hamartomatous polyp. On exploratory laparotomy, gastrotomy was done and anterior wall of the stomach was opened widely. A large polypoidal growth of size 12cm x 8 cm was present which was arising from the posterior wall, it was involving pylorus and causing gastric outlet obstruction. There were multiple sessile polyps of various sizes (0.5–2 cm) found in the body of the stomach [Figure 2c]. Through the anterior gastrotomy opening, intraoperatively enteroscopy (IE) was done and the small bowel was examined. Another jejunal polyp measuring size 3 cm × 2 cm with a broad base was found 45 cm distal to the pylorus. The lesion in the stomach was dissected off from the seromuscular layer [Figure 2d] of the stomach, and the raw area was covered by approximating the mobilized gastric mucosa. The jejunal polyp was resected and end-to-end anastomosis was done. The postoperative period was uneventful. The histopathology of both the gastric and jejunal polyps showed typical features of PJS, i.e., arborizing network of smooth muscle forming a core filiform projection with no evidence of atypia. During follow-up after 3 months, the child was asymptomatic, accepting feed well, and under scheduled UGIE.

Figure 2.

The clinical image of perioral pigmentation (a), the intraoperative image of polypoidal growth after anterior gastrotomy (b), multiple small polyps all over the body of the stomach (c), and resected polypoidal lesions (d)

DISCUSSION

Peutz-Jegher's polyp can involve any part of the intestinal tract with a varied presentations such as abdominal pain, GOO, intestinal obstruction, hematemesis, and melena. PJS has an increased risk of multiple (GI, breast, ovary, testicular, etc.) malignancies; the cumulative risk is between 81% and 93%.[1] The mutation in the STK11 gene, which is a tumor-suppressor gene and regulates cellular proliferation, is responsible for the uninhibited growth that leads to polyp formation as well as increases the risk of multiple cancers.

RI is a rare phenomenon, and no case has been reported in children with PJS. RI in children has been described with Meckel's diverticulum, postgastrostomy, and compound intussusception.[2,3,4] RI is usually a late complication of Roux-en-Y gastric bypass.[5] The exact mechanism of RI is not clear, but several theories have been proposed for post-Roux-en-Y gastric bypass, such as dysmotility, Roux stasis syndrome, ectopic pacemaker, and intestinal spasm theory.[5,6] Although no mentioned theory can explain the RI in our case clearly, we hypothesized that the growth pattern and direction of polypoidal growth, the intensity of reverse peristalsis, or the development of different pressure zone due to polyp at both ends, or fixed duodenal part with mobile jejunum contained polyp could induce RI in our case.

Usually, RI presents as the intraoperative surprise although there are few signs described for RI on the contrast study, i.e., “ coil spring appearance” and “reverse claw sign.”[7] We could not find any radiological sign of RI on the contrast study as well as on the CT scan in our case.

Large polyps present with GOO in children are very rare. In most cases, endoscopic removal is possible, and if it is failed, then it only requires surgical intervention. Chang et al. reported a 16-year-old girl with PJS who presented with GOO due to a large polyp and it was removed surgically as it was broad based and could not be removed endoscopically similar to our case.[8] Burgmeier et al. reported a 2-day-old neonate presented with GOO with a family history (father and grandmother) of PJS, who underwent abdominal exploration.[9]

In our case, the polyp was broad base and multiple small polyps were involving the whole of the stomach [Figure 2b and c]. During dissection of polypoidal growth, initially we could not find the proper plane but once we started dissection there was a plane between the growth and muscularis layer of the stomach. We cleared as much possible polyps to open the gastric outlet and the developed raw area was covered by surrounding mucosa. There was no serosal surface/raw area left open. Yoshizawa et al. reported local resection of the stomach for solitary large polyp, although, in their case, the diagnosis was not certain preoperatively as there were no other signs/symptoms of PJS.[10] Complete excision/removal of polyps is preferable in PJS but not along with gastric resection as it will not cure the ongoing pathology. As these polyps involve the mucosa, submucosa, and muscularis layer, the subserosal plane allows the dissection beneath the polyp base as it was performed in our case.

Polyp appearance and progression in PJS are ongoing pathology. It is always a challenge for the treating team to find the lesions (polyps) at the proper time to avoid complications, and so, scheduled screening endoscopy is imperative. In our institute, we follow the ESPGHAN polyposis working group protocol for screening and follow-up.[11] If any child requires surgery, IE is performed to remove all possible future lead points. IE has an important role to play in diagnosing and resecting the nonpalpable polyps, thereby increasing the duration between consecutive laparotomies and achieve a “clean sweep.”[12] Edwards et al. performed IE in 25 patients of PJS and found that the interval between two laparotomies was 4 years on an average.[13] Intraoperatively, even inspection and palpation of the bowel can identify large polyps, but not always, and so, there is a chance to miss the future lead point. Second, pedunculated polyps can be removed endoscopically and it can avoid multiple enterotomies.

CONCLUSION

Children with PJS commonly present with recurrent intussusception, but RI is very rare. Surgical intervention requires when endoscopic excision of polyp is not possible in the case of GOO. IE increases the yield of removing the nonsymptomatic lesion and hence increases the duration between the subsequent laparotomies.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.