Case Report - Journal of Gastroenterology and Digestive Diseases (2018) Volume 3, Issue 3
Peutz-Jeghers syndrome revealed by recurrent vomiting.
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.Author(s): 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