Abstracto

Peutz-Jeghers syndrome revealed by recurrent vomiting.

Lamia Gargouri, Bayen Maalej, Hamdi Louati, Manel Weli, Lassad Chtourou, Yosr Hentati, Zeineb Mnif, Leila Mnif, Mahdi Ben Dhaou, Nabil Tahri, Riadh Mhiri, Abdelmajid Mahfoudh

Background: Peutz-Jeghers syndrome is a rare, autosomal dominant inherited disease caused by mutation of STK11/ LKB1 (serine threonine kinase 11) characterized by gastrointestinal hamartomatous polyps, mucocutaneous pigmentation and increased risk of malignant disease. The case of a 12-year-old girl with perioral pigmentation who present with recurrent vomiting and weight loss is reported. Endoscopic and radiologic investigation demonstrated a mass in the second portion of the duodenum. She underwent surgery because of a sharp abdominal pain caused by bowel intussusception. Laparotomy revealed two polyps: one in the second portion of the duodenum: Intussusception could be easily reduced and polyps are resected. Histologically, it was a hamartoma.

The child was found to be heterozygote for the mutation c.863-2A>C in intron 6 of the STK11 gene. The patient is followed and is well.

Conclusion: Peutz-Jeghers syndrome should be suspected in any child suffering from recurrent abdominal pain and /or other gastrointestinal symptoms in the presence of characteristic pigmentation.