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

Abstract

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.

Keywords

Fetal anomaly closed gastroschisis vanishing gut short bowel syndrome

Introduction

Abdominal wall defects like gastroschisis are commonly detected at the first visit scan (12–14 weeks gestation), or occasionally in the second trimester anomaly scan (18–21 weeks gestation). Incidence of abdominal wall defects is increasing, and the incidence of gastroschisis is now thought to be about 1 in 2000 births.^1,2 Gastroschisis is differentiated from exomphalos on fetal ultrasound by visualizing free floating bowel outwith the abdominal cavity and an abdominal wall defect seen separate from the umbilical cord insertion site. Babies born with gastroschisis rarely have other associated anomalies or chromosomal abnormalities. After surgical repair of gastroschisis, survival rates are more than 90%.³ Antenatal surveillance includes fetal growth, amniotic fluid volume and observation for signs of intestinal atresia and subsequent bowel dilatation. Bowel dilatation is associated with a poorer outcome.

A more severe end of the spectrum is the rarely reported phenomenon of closed gastroschisis leading to extreme short gut. It is theorized that the abdominal wall defect can contract and even close in utero, which can lead to strangulation of the eviscerated bowel and the rare “vanishing gut syndrome.” Another theory is that a volvulus occurs, which in turn leads to infarction and reabsorption of small bowel.⁴ The baby will be born with either a small (<1 cm) or no abdominal wall defect remaining. The extrinsic bowel is then either reabsorbed or mummified. If this complication occurs, then the outcome is very poor with a mortality rate in excess of 70%.⁵

Case report

An 18-year-old primigravid patient attended for her first visit scan at 13 weeks gestation. Loops of bowel were seen protruding through an abdominal wall defect without a covering sac (Figures 1 and 2). Gastroschisis was diagnosed, and she was counseled regarding the diagnosis. Chromosomal abnormalities are rarely associated with gastroschisis, but the couple opted to go ahead with routine first trimester screening. The Down syndrome screening result was low risk (1:17,193). Discussion was arranged with the paediatric surgical team, and after counselling, the couple opted to continue with the pregnancy. Follow-up was arranged with a fetal medicine consultant. Fetal anomaly and cardiac scans performed at 18 and 20 weeks gestation were unremarkable. Between 18 and 22 weeks, three scans were performed, and the gastroschisis appeared to reduce and vanish (Figure 3). At 26 weeks, no extrinsic bowel was seen, and there was evidence of significant bowel dilatation within the abdomen (Figure 4). Fetal growth continued on the 50th percentile and amniotic fluid volume and umbilical artery Doppler remained reassuring.

Figure 1.

Ultrasound image of gastroschisis diagnosed in the first trimester. It is differentiated from exomphalos by the presence of free floating bowel outwith the abdominal cavity and an abdominal wall defect seen separate from the umbilical cord insertion site.

Figure 2.

Cross-section image of gastroschisis at first trimester scan.

Figure 3.

Gastroschisis seen reducing in size at second trimester scan.

Figure 4.

Ultrasound image of fetal bowel dilatation in third trimester.

At 32 weeks gestation, prophylactic steroid injections were given as early delivery was considered, but before plans could be made, spontaneous labour occurred at 33 weeks gestation. A male infant was born following spontaneous vaginal delivery, weighing 2.33 kg. After delivery, abdominal inspection demonstrated no visible abdominal wall defect. Poor feeding and abdominal distension led to a suspicion of bowel obstruction and dilatation. Abdominal X-ray demonstrated significantly dilated loops of bowel. Due to the significant bowel dilatation and suspected obstruction, an exploratory laparotomy was arranged, and this revealed only 18 cm of dilated small bowel from the Duodenal–Jejunal (DJ) flexure to complete atresia. A jejunoileostomy was performed, and findings were discussed with the parents. After counselling, the parents decided to opt for palliative care. A palliation package was set up, and the infant died peacefully at home on day 29 after birth.

Discussion

Closed gastroschisis and vanishing gut syndrome has been occasionally reported. It was first described in 1957 by Kiesewetter.⁶ Treatment for this condition, if any, is aggressive and can be influenced by the amount of small bowel remaining. This varies but “extreme” short gut can be described as less than 25 cm of remaining small bowel. Surgical treatment can involve a bowel lengthening procedure, such as a Bianchi procedure, or more recently a serial transverse enteroplasty (STEP), first performed at the Boston Children’s Hospital and described in 2003.⁷ These techniques require, at minimum, some small bowel to be present and, therefore, are often not possible, in which case the only surgical option will be a small bowel transplant. All patients, in whom a bowel lengthening procedure is performed, will require total parenteral nutrition (TPN) until some time post-surgery and often as a result of the prolonged TPN, develop end stage liver failure, requiring a liver transplant. The exact cause of liver failure is largely unknown, but there is a higher risk in neonates with this condition due to an immature liver. Many parents decide not to opt for these aggressive treatments, and palliative care plans are put in place.

A literature review found 13 similar extreme cases and more, less extreme cases between 2000 and present. For the purpose of this article, I have focussed on the extreme cases. The case reports are summarized in Table 1. Of the 13 reported cases, 1 was stillborn and 12 were live births. Of the 12 live births, 5 had palliative care and most died within seven days of delivery. There were seven cases where surgical treatment was attempted.

Table 1.

Summary of case reports.

Case Report	Severity	Management	Outcome
Barsoom et al.⁸	Absence of most of mid gut	TPN (total parenteral nutrition) then Bianchi procedure at 5 months of age.	Developed end stage liver failure. Uncertain outcome.
Davenport et al.⁹	1) 22 cm small bowel remaining. 2) 15 cm small bowel remaining.	1) TPN then 2× Bianchi procedure. 2) Primary anastomosis and TPN	1) Liver transplant. Alive at 2.5 years. 2) Died age 9 months from Liver failure.
Ogunyemi¹⁰	Absence of most of mid gut	TPN and anastomosis of jejunum to transverse colon.	Liver and intestinal transplant. Alive when case reported.
Tawil et al. (2001)¹²	Absence of entire mid gut	Intra-uterine death at 34 weeks	Stillborn
Foucher et al. (2008)¹³	Absence of most of mid gut	Palliation	Died age 5 days
Vogler at al.⁵	1) <10 cm small bowel remaining 2) <10 cm small bowel remaining 3) 23.5 cm small bowel remaining.	1) Palliation 2) Palliation 3) Anastomosis, TPN and STEP (Serial transverse enteroplasty) at six weeks of age.	1) Died < 7 days old 2) Died < 7 days old 3) Discharged at 4 months old on TPN. Alive at 11 months old.
Kumar et al.¹¹	1) Absence of entire mid gut 2) 22 cm small bowel remaining 3) 13 cm small bowel remaining. 4) Absence of most of mid gut	1) Palliation 2) TPN and STEP 3) Palliation 4) TPN and referred for small bowel transplant	1) Died < 7 days old 2) Referred to Transplant center for further management. 3) Died 4) Alive at day 15 when transferred to transplant center.

Case 1 was described by Barsoom et al.⁸ Gastroschisis was diagnosed in the second trimester after a high maternal AFP. However, at birth, no abdominal wall defect was seen. Laparotomy revealed extreme short bowel with only 10 cm of remaining small bowel. After TPN, a Bianchi procedure was performed at five months of age. The patient developed end stage liver failure and was an inpatient for eight months. Further outcome is unknown.

Cases 2 and 3 were described by Davenport et al.⁹ A diagnosis of gastroschisis was made at 26 weeks. Spontaneous labour occurred at 32 weeks, and a live male infant was delivered. The extrinsic small bowel was mummified, and only 15 cm of small bowel could be salvaged. Primary anastomosis was performed at laparotomy and TPN commenced. Further surgery took place at eight weeks due to bowel stenosis. Further complications occurred, and he died at the age of 9 months due to complications of liver failure. A further case was diagnosed as gastroschisis at 12 weeks gestation. Follow-up occurred and a live female infant was delivered at 36 weeks gestation. The extrinsic bowel was again mummified, and only 22 cm of small bowel was salvageable. She was commenced on TPN and underwent two separate Bianchi procedures at 5 and 12 weeks of age. She subsequently developed end stage liver failure. A liver transplant was successful at 12 months old, and the child was reported to be alive at 2.5 years of age. Further outcome is unknown.

Case 4 was described by Ogunyemi.¹⁰ Gaststoschisis was diagnosed at 16 weeks gestation on a first visit scan. Amniocentesis was normal and as pregnancy progressed, the gastroschisis appeared smaller, and there was evidence of internal bowel dilatation. Spontaneous labour occurred at 32 weeks gestation, and a baby girl was delivered with closed gastroschisis. Laparotomy revealed only 15 cm of the ileum remained. The jejunum was anastomosed to the transverse colon and eventually underwent a small bowel and liver transplant at 53 months of age. She was alive and well at the time of the case report.

Case 5 was described by Vogler et al.⁵ A male infant was found to have 23.5 cm of remaining small bowel following a closed gastroschisis. An initial anastomosis was performed, followed by TPN and a STEP procedure at six weeks of age. He was discharged home on TPN at four months of age and over time weaned off. He was reported to be alive at 11 months of age. Further outcome is unknown.

Cases 6 and 7 were described by Kumar et al.¹¹ in an article proposing a classification for the spectrum of vanishing gastroschisis. A 2.12 kg female infant was delivered at 33 weeks after preterm labour occurred. Gastroschisis was diagnosed antenatally but was barely visible at delivery. All extrinsic bowel was mummified. At laparotomy, she was found to have 22 cm of salvageable small bowel. A STEP procedure was performed and then she was referred to a transplant center for further management. The final case (also described by Kumar et al.) was a 2.23 kg male infant delivered after spontaneous labour at 35 weeks gestation. Gastroschisis had not been diagnosed antenatally, but bowel dilatation had been noted in the third trimester. Laparotomy revealed absence of the entire small bowel. Anastomosis of the jejunum to the colon was performed, but there was not enough small bowel to perform a bowel lengthening procedure. Following stabilization and TPN, he was referred to a transplant center on day 15 for a small bowel transplant. Further outcome of these cases are not known.

Conclusions

When gastroschisis is complicated by closure or contraction of the abdominal wall defect, resulting in vanishing gut syndrome, morbidity and mortality is greatly increased. Treatment options are limited and highly complex. It is clear from the case reviews that even with surgical treatment, survival rates are still poor. Only two cases of the seven who underwent a procedure were confirmed to survive into infancy, and these better outcomes were associated with the longest lengths of small bowel remaining (22 cm and 23.5 cm). This finding was not correlated in a study by Garnett et al.⁷ However, these infants were undergoing a STEP procedure for several different causes of short bowel syndrome, not just closed gastroschisis. When counselling patients regarding a diagnosis of fetal gastroschisis, we may still be positive about outcomes, but it is imperative that we mention this rare possible complication. This is especially true if the gastroschisis appears to be reducing in size, and there is bowel dilatation noted within the abdomen. Then parents may be more prepared for a poor outcome and can begin to consider the difficult choices of palliative care or aggressive surgical treatment. Furthermore, if these events are occurring later in the pregnancy, there may be an option for early delivery to attempt to save viable bowel. This, however, must be carefully considered in the extreme preterm infant (24–28 weeks gestation).¹⁴

Footnotes

Declaration of Conflicting Interests

The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Funding

The author(s) received no financial support for the research, authorship, and/or publication of this article.

Ethical approval

Written consent was obtained from the patient to publish the images and medical details of the case.

Guarantor

FD.

Contributorship

FD researched the literature and wrote up the case report. The scan images are obtained from scans performed by FD.

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