Peitz–Jaegers syndrome as a cause of intussusception in children

Abstract

BACKGROUND: Intestinal intussusception is a common cause of acute intestinal pathology in children. Peitz–Jaegers syndrome is a rare disease with an autosomal dominant type of inheritance characterized by the development of hamartomic polyps in the gastrointestinal tract and pigmented spots on the skin and mucous membranes. It is a “precancerous” state which increases the risk of oncologic formations in the gastrointestinal tract and in genital glands. Peitz–Jaegers syndrome is associated with mutations in STK11 or LKB1 genes.
 CLINICAL CASE DESCRIPTION: The article describes the authors’ experience in surgical resolution of the intestinal intussusception with atypical course in a 6-year-old child. Diagnostic laparoscopy detected intussusceptions in the small intestine, one of which was immediately desinvaginated with instruments and the other one required conversion. During the surgery, dense tumor-like formations were identified; therefore, jejunum loop with revealed formations was resected. Further histological and other testings showed that these formations were hamartomic polyps. The patient had been preliminary diagnosed with Peitz–Jaegers syndrome which further was confirmed by genetic and histological analyses and gastroscopic examination. The postoperative period was uneventful; the child was discharged in the satisfactory condition on day 7 after the surgery.
 CONCLUSION: Consultations with a pediatric surgeon and gastroenterologist, examination of the upper and lower gastrointestinal tract, monitoring polyps’ onset or growth are stages of key importance in children with Peitz–Jaegers syndrome. Such an approach promotes minimization of risks associated with the course of this disease. To prevent emergency surgical situations, it is important to make genetic analyses for children with the family history of polypous syndrome in the gastrointestinal tract.