Complicated Peutz Jeghers syndrome

Clinical History

Acute abdominal pain in a 22 year-old man with Peutz-Jeghers syndrome. Radiographic/sonographic findings

Imaging Findings

This 22 year-old man was known to have Peutz-Jeghers syndrome. He had melanotic deposits around the mouth and on the dorsal aspect of both hands. 6 years before this episode, he had enteroclysis which had shown multiple polyps developed in the stomach, the duodenum (Fig. 1) and the proximal jejunum. He was referred to our hospital for acute paroxystic abdominal pain. He had bilious vomiting and bloody stools. He had severe microcytic hypochromic anemia. Plain film of the abdomen (Fig. 2) and ultrasound (Fig. 3) were performed on emergency. Imaging findings were consistent with intussusception. Diagnosis was confirmed by surgery (one meter long ileo-ileal intussusception). Lead point was an ileal polyp. Reduction of the intussusception was obtained manually, then resection of 10 centimeters of ileon centered on the polyp was performed. Histological examination showed benign hamartoma. Immediate follow up was uneventful.

Discussion

Peutz-Jeghers syndrome is an autosomal dominant inherited trait. Sex ratio is 1/1. Occasional mutations were described. Syndrome associates : 1/muco cutaneous pigmentation which predominates in the oral region, on the nostrils, on the hands and feet, in genital and peri anal regions and 2/polyposis which can be found from the stomach to the rectum. Polyps are most common in the small intestine and appear to be rare in the esophagus and in extra intestinal locations. Polyps are hamartomas of the muscularis mucosa and are characterized by a smooth muscle core covered by mature glandular epithelium. Complications of Peutz-Jeghers syndrome are : 1/ chronic haemorrage by ulceration of polyps leading to anemia 2/ Malignant transformation of polyps (rare : 2-3% cases). There is an increased prevalence of extraintestinal malignancy (especially pancreas, ovarian, testis and breast carcinomas) 3/ Intussusception. The most frequent complication (47% cases). Intussusception is more frequent in childhood. High frequency sonography allows diagnosis without any radiation. Plain film radiography shows acute obstruction and eliminates pneumoperitoneum. In our case, CT was not performed because we considered that combination of plain film and ultrasound was sufficient. On sonography, the hypoechoic "half moon sign" is known to be evocative of ileo ileal intussusception. Ultrasound can detect recurrence which can occur in 10% cases. Treatment was surgical in this case, but coelioscopic management was recently described and seems to be efficient.

Differential Diagnosis List

Final Diagnosis

Intussusception in Peutz Jegers syndrome

URL:	https://eurorad.org/case/508
DOI:	10.1594/EURORAD/CASE.508
ISSN:	1563-4086