Peutz Jeghers syndrome in childhood : report of a case

Abstract

Peutz-Jeghers syndrome is a condition characterized by intestinal polyposis associated with typical pigmented spots around the mouth and on the oral mucosa. The syndrome is rare and to date about 300 cases have been reported in the world literature. It is much rarer in children than in adults. A case study of an 8-year-old boy with a 12 months history of recurrent episodes of anorexia, abdominal pain and vomiting is reported. The pain was colicky and localised to the epigastrium, usually coming on a few minutes after meals. On examination the boy looked pale and thin, weighing 41 lbs. He had numerous freckles on the face, especially on the nose and cheeks and around the mouth. The pigmentation extended over the vermilion of both lips and there were everal bluish-black pigmented spots on the labial and buccal mucosa. In diagnosis, it is usually the characteristic peri-oral and buccal pigmentation which suggests intestinal polyps as the basic cause of the patient's abdominal symptoms. In view of the decision to operate, the anemia was corrected by blood transfusion. The prognosis of the condition is, on the whole, good though these patients are prone to develop anemia from intestinal blood loss and have repeated episodes of intussusception from further polyps which tend to crop up in spurts over the years and which often require further surgical treatment.