Two contrasting presentations of Peutz-Jeghers syndrome

Abstract

A 17-year-old girl of Chinese origin was referred as a case of suspected acute appendicitis with a 3-day history of a colicky abdominal pain which had started off in her peri-umbilical region. She had presented to another hospital 2 days before, but was discharged home after an overnight stay because her symptoms had improved. The pain had now become more severe and was associated with bilious vomiting, absolute constipation for 3 days, and increasing abdominal distension. On further questioning she had experienced a self-resolving peri-umbilical pain intermittently over the past 3 years, but had never had this investigated. Her last period was 3 months ago, and she was being investigated for irregular menstruation in China. There was no family history of any gastrointestinal problems. On examination, she was markedly dehydrated and noted to have ‘freckle-like’ lesions around her mouth and on her lips (Figure 1). She had a pyrexia of 38.1 °C, a tachycardia of 130 beats per minute, and was normotensive. The abdomen was visibly distended, tender (mostly in her epigastrium and left upper quadrant) and absent of bowel sounds. There was no evidence of previous surgery and scars, and digital rectal examination was unremarkable with an empty rectum. Blood tests showed marginally raised white cell count (13.8×109/litre) and C-reactive protein (51 mg/litre), and urine tests were unremarkable with a negative β-human chorionic gonadotrophin level. A plain abdominal radiograph showed an isolated loop of small bowel in the left upper quadrant (Figure 2), and a computed tomography scan of her abdomen was performed showing a long intussusception of the proximal jejunum with free pelvic fluid (Figure 3). This segment of bowel was grossly dilated and a diagnosis of small bowel obstruction secondary to intussusception was made. Exploratory laparotomy was performed and revealed a 45 cm-long segment of intussuscepted jejunum which was ischaemic and non-viable, thereby requiring small bowel resection and primary anastomosis. On opening of the resected specimen a small polyp was identified at the lead point of the intussusceptions (Figure 4). The remainder of the small bowel did not contain any palpable or visible polyps, but a Meckel's diverticulum was found and resected. Histology of the intussuscepted small bowel segment revealed three pedunculated polyps (the largest 45×25×25 cm) with branching muscle pattern and relatively bland nuclei, consistent with a diagnosis of Peutz–Jeghers syndrome. The patient made a complete uncomplicated recovery and was discharged at postoperative day five.