PJS was first described in literature published in 1895 by Dr. Connor, a British physician who reported identical twin sister's with oral pigmentation. One sister died due to intestinal obstruction age 20 years while the other died due to breast cancer aged 59 years.
Intussusception was also described as a complication in the year 1942 by Peutz, a German physician. The report described the typical features of a patient with PJS suffering from intussusception, including facial and perioral hyperpigmentation, intermittent abdominal pain, and rectal bleeding. Further analysis of the syndrome led the said physician to conclude that the disease was an autosomal dominant condition.
Later, in 1998, it was discovered that the cause of PJS was a mutation in the STK11 gene, also known as the LKB1 gene. STK11/LKB1 genetic mutation is found in around 30% to 70% of PJS patients and in around 70% of patients with a positive family history.
The diagnosis of PJS can be made with the presence of hamartomatous polyps in patients with the addition of 2 of the following clinical criteria: labial melanin deposits, positive family history of the syndrome, and small bowel polyposis.
The classical triad for intussusception of abdominal pain, mass, and bloody stool was present in our patient. Patients with PJS generally have hundreds of polyposis and are mainly distributed in the small intestine, followed by the large intestine and stomach. Usually, the intestinal polyps are pedunculated, while the polyps in the stomach are broad-based and hamartomatous histologically.
These patients are at risk of malignant neoplasm transformation. In 1983, Tovar et al described that 7.14% of children with PJS subsequently developed malignancy, with gonadal tumors being the most common.
Baeza-Herrera et al in 2005, reported that 1.4% of children with PJS also had intussusception. The relationship between PJS and intussusception is a known and predictable outcome as intestinal polyps can increase the risk of the intestine introducing within itself.
Nowadays, conventional barium studies have been replaced with more advanced cross-sectional techniques such as ultrasonography, CT, and magnetic resonance imaging (MRI). Ultrasonography will typically show a “doughnut” or a “target” sign picture; however, in this patient, ultrasound was not performed. An abdominal CT scan is the most useful imaging modality as it is helpful in revealing the underlying lesion. Although barium enema can also help in diagnosing intestinal intussusception, a multicenter study by Barussaud et al reported that CT associated or not with barium enema may be the most accurate modality for diagnosis of intussusception in adults. However, the overall diagnostic approach still depends on the patient's clinical presentation.
Definitive surgical intervention is recommended in PJS patients complicated by intestinal obstruction, evidence of malignancy, or considerable gastrointestinal hemorrhage[10-12]. In our case, the patient was complicated by intestinal obstruction caused by intussusceptions due to intestinal polyps.
In a large majority of children with PJS, the existing number of polyps is usually large, causing them to have a recurrent crisis of intussusception that disappears as fast as it appear. It may be due to the large number of polyps present in a short segment of the intestine which causes the intussusception to reoccur, and the child may need multiple surgeries.
With the advent of emerging endoscopic techniques, combined endoscopic and surgical interventions have been performed successfully in the reduction of an ileoileal intussusception followed by a double-balloon endoscopic (DBE) resection of the polyp[13,14].
The usage of DBE avoids the need for urgent laparotomy in which the patient can limit the risk of the development of short bowel syndrome. However, this can be limited by the lack of resources in some centers.
In the event of signs suggesting bowel ischemia or peritonitis, an emergency laparotomy is still the preferred choice. In patients with bowel ischemia or an irreversible correction, en bloc removal of the affected intestine followed by a primary anastomosis is recommended. Once the derivation is planned, enterostomies and intra-operative endoscopy must be utilized to extract the highest number of polyps as possible as the disease will produce recurrent intussusceptions.
In our case, we were able to perform endoscopic polypectomy for the large polyps preventing future reoccurrence of intussusception and intraoperatively, the patient did not require major resection except for the intussusception segment. However, we were unable to address the polyps in the entire small bowel as it may cause short bowel syndrome if resected.
PJS is an autosomal dominant condition characterized by hamartomatous polyps primarily in the small intestine and mucocutaneous pigmentation. PJS patients have a high risk of intussusception, especially in the younger age group.
Hence, patients with PJS are strongly recommended to have regular follow-up examinations and periodic polypectomy of the entire small bowel to prevent complications.
Wireless capsule endoscopy is an emerging and popular diagnostic method and has been found to have a higher diagnostic yield of polyps found as compared to a CT or MRI study. CT and MRI with oral contrast are other options for screening, in which MRI is more advantageous when compared to CT as it prevents young people from being exposed to high doses of radiation and has a higher accuracy rate.
Treatment is mainly surgical intervention followed by endoscopic or radiological surveillance with periodic polypectomy. Patients with PJS should have regular follow-up throughout their lives as they are at risk of malignant transformation.