Peutz-Jeghers syndrome diagnosed in childhood

Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder characterized by the development of benign hamartomatous polypus in the gastrointestinal tract with mucosal pigmenta- tion of the lips, gingiva, hard palate and around the eyes and nose. In 1921 Peutz was the first who recognized the familial association of gastrointestinal polyp. The original family was described by Jeghers in 1949. This syndrome is rare with a prevalence of about 1/50000. If a parent has PJS, there is a 50 percent chance that the abnormal gene will be passed to the child (chromosome 19). Almost 50 percent of patients develop cancer by the age 60.

The polyps may occur in any part of gastrointestinal tract, but polyps in the jejunum are a consistent feature of the disease. The first bowel obstruction due to intussusception usually occurs between the ages 6–18.

A 12 years old boy was admitted with abdominal pain and vomiting. He had mucocutaneous pigmentation of the perioral region, lips and gingiva.The native abdominal X ray and ultrasonography didn't show anything.The abdominal CT combined with contrast material diagnosed ileus. Explorative laparatomy was made. The jejunal intussusception (with necrotising wall) were resecated including two polypus, end to end anastomose was made. Histology diagnosed tubulovillosus adenomatous polypus. During the last 10 years we didn't have another case in our department. He was discharged 14 days after operation without any problems. He will be followed up by upper and capsule endoscopy adding blood and stool sample examination.