A 20-year-old female patient with a family history significant for Peutz-Jeghers syndrome presented to the hospital multiple times with complaints of abdominal pain. On the initial visit to the hospital, the patient underwent small bowel resection for small bowel obstruction secondary to intussusception, following which she visited the hospital again one year later for similar complaints and underwent reduction of multiple points of intussusception of the small bowel without any resection of the same. Eventually, the patient underwent resection of the small bowel for the second time, along with tumor resections. The importance of follow-up in patients with Peutz-Jeghers is particularly essential, in part, because it is vital to monitor the tumors, their size, and number to prevent surgical intestinal complications, anemia, and also to eventually monitor for carcinomatous changes.

Peutz-Jeghers syndrome (PJS) is an autosomal dominant mutation of the STK11/LKB1 gene on chromosome 19 often characterized by mucocutaneous pigmentation, hamartomatous polyps, anemia, gastrointestinal bleeding and intussusception. We present the case of a 21-year-old female with no pertinent family history who received the diagnosis of PJS after presenting to the hospital with two episodes intussusception. Patients with PJS have an increased lifetime risk of developing stomach, small bowel, colon, pancreatic, breast, cervical, uterus and testicular cancer requiring religious surveillance at an early age.

Hamartomatous polyps are gastrointestinal tumors that may present with small bowel obstruction requiring surgical resection, while others may present earlier as symptomatic anemia prior to becoming an obstructing mass. Video capsule endoscopy has enhanced the early detection of small bowel lesions. However, endoscopic interventions especially for distal small bowel lesions are limited due to long procedure times, technical challenges in achieving depth of insertion, and the requirement of specialized deep enteroscopy equipment with advanced endoscopy training, which are not always available. Therefore, surgical intervention is often required. NaviAid-assisted enteroscopy, a novel thorough-the-scope balloon, results in deep anterograde and retrograde intubation of the small intestine using standard colonoscope and can be used for rapid therapeutic intervention. We present two cases of distal small bowel hamartomas which were resected via retrograde NaviAid-assisted enteroscopy, thus, preventing surgery.

OBJECTIVE: Peutz-Jeghers syndrome is a rare autosomal dominant inherited disease caused by a germline mutation of the STK11/LKB1 gene, located on chromosome 19p13.3. It is characterized by mucocutaneous hyperpigmentation, hamartomatous polyposis, and predisposition to cancer. The aim of the present study was to identify and register patients with Peutz-Jeghers syndrome, describe the disease, and estimate its prevalence in Valencia (Spain).
METHODS: A print-out of the clinical histories from 10 hospitals was obtained utilizing the ICD-9 code 759.6 from the Minimum Basic Data Set of Hospital Admissions of the Spanish Ministry of Health and Consumer Affairs.
RESULTS: From a total of 405 clinical histories found, 15 (9 males and 6 females) fit the diagnostic criteria of Peutz-Jeghers syndrome. Mean age at diagnosis was 13.8 years and mean age at death was 54.2 years. Four males died, all from cancer. The estimated disease prevalence was 0.4/100,000 inhabitants. All the patients presented with anemia and polyps in the small bowel (80% in the duodenum, 66.7% in the ileum, and 40% in the jejunum), 93.3% underwent urgent surgical intervention and presented with intestinal invagination, and 40% of the patients developed cancer at a mean age of 48.5 years.
CONCLUSIONS: The present study is the first register of patients with Peutz-Jeghers syndrome in Valencia, Spain. The ICD-9 code is nonspecific for rare diseases. The duodenum was the most frequent location for polyps and the majority of cases presented with intestinal invagination, bowel obstruction, and urgent surgical intervention. A large percentage of patients presented with cancer. It would be of interest to review and evaluate the existing surveillance protocols in the Valencian Community.