Closed gastroschisis, vanishing midgut and extreme short bowel syndrome: Case report and review of the literature

Gastroschisis alone has excellent survival rates. Occasionally reported is closed gastroschisis, leading to vanishing small bowel and extreme short bowel syndrome. It is believed that the abdominal wall defect can contract or close in utero, which leads to strangulation of the eviscerated bowel and the rare "vanishing gut syndrome." This has a very poor prognosis with mortality as high as 70%. An 18-year-old primigravid patient's 13 week scan diagnosed a large gastroschisis affecting the fetus. After counselling, she decided to continue with the pregnancy. Between 20 and 22 weeks, the gastroschisis disappeared, and the bowel within the abdomen became markedly dilated. Spontaneous labour occurred at 33 + 3 weeks gestation. There was no abdominal wall defect seen at delivery. Imaging and an exploratory laparotomy demonstrated absence of most of the midgut. Because available options for treatment would be very aggressive and risky, palliative care was thought to be the most feasible and practical option. He died at home on day 29 after birth. Extreme short gut syndrome (less than 25 cm of remaining small bowel) is rare. There are 13 reported cases in the literature from year 2000 to 2013. Treatment is aggressive and involves a bowel lengthening procedure or small bowel transplant. All require total parenteral nutrition and liver failure, and liver transplant is a common complication. Of these cases, 12 were born alive and 7 had aggressive treatment. Only two cases were confirmed to still be alive in infancy. If gastroschisis is seen to be reducing and "disappearing" antenatally, parents should be made aware of this rare complication so that they might be prepared if a poor outcome is anticipated.