Peutz-Jeghers syndrome: an unusual autopsy finding in pregnancy

Abstract

Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant polyposis entity that often remains undiagnosed. The major problems associated with PJS are acute complications due to (i) polyp-related intestinal obstruction, (ii) intussusception, and (iii) the risk of cancer in the long-term. We report the case of a 32-year-old female who presented at the emergency room with signs of acute abdomen and died during the clinical workup. She had a one-month history of nausea, vomiting, and diarrhea and was pregnant at about 30 weeks. There was no contributing past history except for undergoing small bowel resection in infancy. The postmortem examination revealed multiple arborizing polyps throughout the gastrointestinal tract, chiefly in the small bowel. Intestinal obstruction was found at the proximal jejunum with necrosis, perforation, and peritonitis. Histologically, the polyps were composed of tree branch-like bundles of smooth muscle covered by normalappearing glandular epithelium, confirming the diagnosis of hamartomatous polyps. No malignant or premalignant lesions were detected in the gastrointestinal tract or other organs. This case was an opportunity to analyze the natural history and the pathological features of the Peutz-Jeghers syndrome in an adult and to investigate the presence of neoplastic lesions associated with this condition.

Peutz-Jeghers syndrome: revisited

“…There was jejunal obstruction by a necrotic polyp, with perforation and peritonitis, and few voluminous sessile colonic masses were detected, but no extra-intestinal polyp. 6 The authors commented that 95% of intussusceptions develop in the small bowel due to polyps with a diameter greater than >15mm, as disclosed by the postmortem study. 6 Malignant changes were not detected in the gastrointestinal tract nor in any other organ, besides, no mucocutaneous pigmentation was observed in postmortem examination.…”

“… 6 The authors commented that 95% of intussusceptions develop in the small bowel due to polyps with a diameter greater than >15mm, as disclosed by the postmortem study. 6 Malignant changes were not detected in the gastrointestinal tract nor in any other organ, besides, no mucocutaneous pigmentation was observed in postmortem examination. The absence of signs of PJS, easily seen by general inspection of the patient, and lack of information about the basic cause of laparotomy made difficult the clinical diagnosis.…”

“…4 The histopathologic diagnosis is established with the base on the arborizing pattern observed in the hamartomatous PJ. 4 , 6 Most common PJ gastrointestinal polyps are described in the small bowel (50%), stomach (36%), and colon (21%); extra-intestinal may be in the bladder, nostril, bronchi, or gallbladder. 3 , 4 , 6 , 7 , 9 Gastrointestinal polyps may cause bleeding, intussusception, and even rectal prolapse; 6 , 8 and the intussusception risk by age 10 is 15%, and by 20 years the risk is up to 50%.…”

“…4 , 6 Most common PJ gastrointestinal polyps are described in the small bowel (50%), stomach (36%), and colon (21%); extra-intestinal may be in the bladder, nostril, bronchi, or gallbladder. 3 , 4 , 6 , 7 , 9 Gastrointestinal polyps may cause bleeding, intussusception, and even rectal prolapse; 6 , 8 and the intussusception risk by age 10 is 15%, and by 20 years the risk is up to 50%. 7 Small bowel intussusception is the most urgent and life-threatening of all manifestations.…”

“…Recently, the author’s team read the case report by Oliveira et al 6 describing the autopsy study of a 32-year-old pregnant woman at about the 30th week of gestation who had nausea, vomiting, and diarrhea for 30 days before being admitted to the emergency room with abdominal colic for 3 days. The physical examination revealed findings consistent with an unidentified acute abdominal condition that caused her death during the first admission evaluation.…”