Answer of February 2010

Clinical History:

A 27 years-old Indonesian was presented with abdominal pain and bloody diarrhea for two days. Physical examination revealed left sided abdominal tenderness and guarding. There was associated hypotension (BP 93/39mmHg) and anemia (Hb 7.6g/dl). An urgent CT scan of the abdomen and pelvis was performed.

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Diagnosis:

Peutz-Jeghers Syndrome with ileocolic intussusception

Discussion:

CT scan of the abdomen and pelvis revealed multiple intraluminal enhancing lesions within the GI tract including the stomach, duodenum, small bowel and large bowel. Ileocolic intussusception with lead point reaches sigmoid colon is seen. Incidentally, there are bilateral ovarian cysts noted. Peutz-Jeghers syndrome was first described by Peutz in 1921 and Jeghers in 1944. It is a rare autosomal dominant disease with incomplete penetrance characterized by intestinal polyposis and mucocutaneous pigmentation. There is no sex or racial predominance. The mucocutaneous lesions of Peutz-Jeghers syndrome are considered to be hamartomatous in origin and without potential of becoming malignant. Gastrointestinal hamartomas are found anywhere from the stomach to the rectum, with small bowel being the commonest site. They are at increased risk of developing GI adenocarcinomas (2-3%) with the mean age at diagnosis being about 40 years of age. The majority of cancers are found in the stomach, duodenum, and colon. Interestingly, the small bowel is the least common site of adenocarcinoma. There is also increased risk for developing extraintestinal malignancies, the most common of which are pancreatic, breast, and reproductive organ carcinomas such as ovarian and testicular cancer. Major risk of extraintestinal malignancy in women was for breast cancer, estimated risk being 50% at 60 years of age; this risk is comparable to that associated with mutations of BRCA1 or BRCA2. Imaging findings of Peutz-Jeghers syndrome include multiple polypoid lesions involving the stomach, small bowel, and colon with variable appearance¡Xsmall or large, sessile or pedunculated. They can be detected in barium studies, ultrasound or CT. Intussusception, being a common complication, may be seen in plain radiography, but usually diagnosed by ultrasound or CT. The diagnosis of Peutz-Jeghers syndrome is made on the basis of clinical features in conjunction with radiologic findings and histologic analysis of the hamartomas. Because of the increased risk of both gastrointestinal and extraintestinal malignancy, careful surveillance screening of Peutz-Jeghers patients is recommended. Regular upper and lower GI endoscopy and removal of all polyps greater than 5mm are recommended. Regular clinical examination and ultrasound screening of breast, gynecologic, and testicular system to detect extraintestinal malignancy should be considered. Laparotomy should be reserved for obstruction, severe bleeding or malignancy.