From the Guidelines
This patient should undergo evaluation for Peutz-Jeghers syndrome (PJS) due to the recurrent small bowel intussusception, which is a common symptom of this condition, as reported in a study published in Clinical Cancer Research in 2017 1. The patient's history of recurrent small bowel intussusception, with two episodes by the age of 1 year, raises concern for an underlying anatomical lead point or a genetic syndrome.
- The study published in Clinical Cancer Research in 2017 1 highlights that symptoms of PJS often arise in childhood, with intussusception occurring in 15% of patients by age 10 years and 50% by age 20 years.
- Given the patient's age and symptoms, it is essential to consider PJS as a potential diagnosis, especially since the patient has already experienced two episodes of intussusception.
- The evaluation for PJS should include a thorough physical examination to look for characteristic mucocutaneous pigmentation, as well as imaging studies to detect any polyps in the gastrointestinal tract.
- If PJS is diagnosed, the patient will require regular surveillance for malignancies, as individuals with PJS are at increased lifetime risk for various cancers, including gastrointestinal, pancreatic, breast, testicular, and ovarian cancers, as noted in the study published in Clinical Cancer Research in 2017 1.
- While the patient's Down syndrome may increase the risk of gastrointestinal anomalies, the recurrent intussusception suggests a specific underlying cause that needs to be addressed to prevent future episodes and potential complications.
- Continuing the ferrous sulfate for iron deficiency anemia is essential, but addressing the underlying cause of intussusception is crucial to prevent bowel ischemia, necrosis, and perforation.
From the Research
Patient Presentation
The patient is a 1-year-old boy with Down syndrome who has experienced two episodes of small bowel intussusception, both of which resolved spontaneously. He is currently taking ferrous sulfate for mild iron deficiency anemia.
Recurrent Intussusception
- Recurrent intussusception is defined as an occurrence of intussusception of a bowel loop in a patient with a prior resolution of intussusception, either spontaneously or with an intervention 2.
- It is not rare to develop a subsequent episode after a successful reduction of intussusception 2.
- In patients with recurrent intussusception, it is essential to consider a reconstructive option, such as resection and reconstruction, as it appears to be associated with acceptable complication rates and the lowest risk of recurrence 3.
Potential Causes
- Intussusception can be caused by various factors, including tumors, lymphoid hyperplasia, and other pathologic lead points 4, 5.
- In some cases, no pathologic lead point may be found, and the intussusception may be self-limited 5.
Treatment Options
- Oral dexamethasone may be effective in resolving symptoms of recurrent small bowel intussusception, especially in cases with lymphoid hyperplasia 5.
- Ferrous sulfate is commonly used to treat iron deficiency anemia, but it may be associated with gastrointestinal side effects 6.
- Sucrosomial iron is an alternative oral formulation that may have better gastrointestinal tolerance and higher iron absorption compared to ferrous sulfate 6.