A case of vanishing gastroschisis with short bowel syndrome treated by total parenteral nutrition and intestinal lengthening procedures

Abstract

The diagnosis of vanishing gastroschisis is made when in the presence of a full-thickness intrauterine abdominal wall defect the eviscerated loops are incarcerated in the fascial interruption. Four types of vanishing gastroschisis are described (A–D). We report on the case of a newborn with a vanishing gastroschisis-D. Gastroschisis was diagnosed at the 19th week of gestation, confirmed at the 30th, when the herniated loops previously visible to the right of the funiculus were no longer visualized. At the 32nd week, delivery was induced. The neonate weighed 1600 g, and the abdomen was distended, free from skin defects. On surgical exploration, the jejunum was 13 cm in length, with a blind ending. The post-atretic intestine measured 22 cm. A jejunostomy and a colostomy were built. The child received total parenteral nutrition for 13 months due to short bowel syndrome and was then subjected to intestinal lengthening procedure when she was 18 months old. Vanishing gastroschisis is a rare entity with a worse prognosis of the “classic” gastroschisis.

Introduction

Gastroschisis is a full-thickness abdominal wall defect right-sided to the cord, with exteriorization of the bowel and other viscera. Currently, it is estimated to occur in 5 out of 10,000 births^1,2 and is accompanied by abnormal intestinal rotation. In rare cases, the abdominal wall may close around the viscera during pregnancy, leading to ischemia or variable midgut infarction. This event is described as closed or vanishing gastroschisis (VG).

Neonates affected by gastroschisis have a good outcome.^3,4 However, 17% of gastroschisis cases are complicated by intestinal atresia, perforation, necrosis, or volvulus, resulting in complex gastroschisis. One of the most feared complications is closed gastroschisis, which is VG that occurs when the abdominal defect is closed in utero in association with atresia of the small intestine and short bowel syndrome (SBS). The eviscerated loops are, in fact, incarcerated in the fascial interruption with consequent intestinal damage (intestinal atresia, stenosis, or resorption). Perrone et al. ⁴ proposed a new classification for VG in 2019 based on an analysis of 53 children. This classification reflects the expected clinical long-term results. There are four types of VG (A–D) starting from a wall defect evident at birth with ischemic intestine. These range from a viable form (A) to a complete form with a closed parietal defect, amputated intestine, and associated intestinal atresia (D). Type D represents only 8% of patients. We report a case of the VG-D that was subjected to the Bianchi procedure with an uneventful follow-up after 3 years of age.

Case presentation

The fetus of a 22-year-old primigravida woman had gastroschisis according to routine ultrasound (US) at the 19th week of gestation. The antenatal US findings were extra-abdominal bowel loops with herniated content occurring toward the right side of the umbilical cord, which were consistent with gastroschisis. The fetal abdominal circumference was smaller than expected for gestation age, and the herniated bowel appeared free floating and slightly thickened. Moderate polyhydramnios was present (Figure 1(a) and (b)).

Figure 1.

(a, b) Ultrasound image at the 19th week of gestation, showing extra-abdominal bowel loops.

A sonographic examination was carried out in the 30th week of gestation, and the previously prolapsed bowel was no longer recognizable, with a slightly increased polyhydramnios. At that time, no intestinal dilation was noticed. At the 32nd week of gestation, a cesarean section was performed because of ascitic effusion and distension of the remaining intra-abdominal loops (Figure 2(a)). The postnatal examination showed a preterm female baby (body length 44 cm and body weight 1600 g) with a distended abdomen and no recognizable skin defects. An abdominal plain X-ray revealed distension of cranially located small intestinal loops, which was compatible with atresia of the small intestine (Figure 2(b)). Laparotomy was performed through which a type 3A jejunal atresia was diagnosed along with extensive midgut atresia (Figure 3(a)).

Figure 2.

(a) Ultrasound image at the 32nd week of gestation, showing no prolapsed bowel and dilated residual intra-abdominal loop and (b) abdominal X-ray at birth.

Figure 3.

(a) Aspect of the bowel at laparotomy and (b) schematic drawing of the anomaly.

The diameter of the lumen of the blindly ending jejunum was about 1.5 cm, while the blindly closed aboral intestinal portion (ascending colon) was about 5 mm in diameter. The terminal ileum and the cecum were not identified. Two terminal (single lumen) stomas were built in with the atretic jejunum and colon. The measured length of the small intestine was about 13 cm, while the colonic segment was about 22 cm in length (Figure 3(b)).

In the following weeks, we trained the distal aboral part of the stoma using succus mucous fistula refeeding (MFR).

MFR showed promising results, which may be due to restoration of gut microbiota, absorption, and motility, not forgetting a modest volumetric expansion of the microcolon. ⁵

MFR was achieved with intermittent collection of stoma effluent and refeeding over the same period of time, most commonly 4–6 h.

At 6 months of age, the child was subjected to re-laparotomy, and an end-to-end jejuno-colonic anastomosis was fashioned.

The child received total parenteral nutrition (TPN) for 13 months due to SBS, and only a small amount of milk administered orally, which was scarcely tolerated by the child due to immediate diarrhea. When she was 18 months old, she was treated with an autologous intestinal lengthening procedure using the Bianchi technique to achieve autonomy from TPN. The dilated jejunal segment (4x, evaluated by a contrast study—Figure 4) was divided to form two separate intestinal tracts, which were tubulized and anastomosed with each other in an isoperistaltic manner. At the end of the procedure, a gastrostomy and a colostomy were performed in order to protect the long anastomotic suture line and prevent anastomotic leakage. The post-operative course was uneventful, and the child recovered well.

Figure 4.

Contrast study showing proximal intestinal dilation (6 cm vs 1.5 cm of the distal bowel).

The colostomy was made using a Foley catheter, which closed spontaneously after the removal of the catheter on day 15. The gastrostomy is no longer used, and removal is planned. The child is now 3 years old, weighs 10 kg, 90 cm tall, and is supported by parenteral nutrition 3 days per week for 12 h per day. She has an age-appropriate diet, her growth in stature and weight is satisfactory (10th percentile of weight and 15th percentile of height), and her indices of cytolysis and cholestasis are progressively decreasing.

Discussion

Gastroschisis with intestinal atresia is a well-known combination of malformations, and various causes have been proposed. From an embryological perspective, gastroschisis occurs at 4–8 weeks of gestation due to an abnormal involution of the right umbilical vein. There is also the possibility of an insult of the right omphalo-mesenteric artery or right vitelline artery. In rare cases, it is possible that the abdominal wall defect begins to grow in tiny steps and may close spontaneously, thus damaging the prolapsed portion of the intestine and mesentery. In such a case, the abdominal wall defect can be completely closed, or an extra-abdominal bowel remnant with two blind ends can be established through the abdominal wall.

The mechanisms of the occurrence of VG remain unclear. Three theories are presented in the literature:

1. The abdominal wall defect surrounding the bowel loops compresses the mesenteric vessels inducing bowel ischemia.

2. A spontaneous abdominal wall closure occurs through strangulation of the prolapsed bowel in the abdominal wall defect with subsequent necrosis of the intestinal loop.

3. An intestinal malrotation/volvulus occurs occasionally, and the resulting absorption of the protruding intestinal segment can lead to a spontaneous abdominal wall closure.

To the best of our knowledge, evidence for gastroschisis can be feasible at the 13th week of pregnancy. One criterion for the possible presence of a slowly closing gastroschisis is progressive intra-abdominal dilatation of the intestine loops while the extra-abdominal intestine decreases in size or even disappears. Therefore, the ability to detect VG in a timely manner could be lifesaving. The outcome is challenging for small-for-gestational-age and preterm infants with gastroschisis, especially with an intestinal atresia due to VG. Prenatal closure of an abdominal defect has been associated with long-segment atresia of the midgut in most cases, and spontaneous closure of the abdominal defect has been associated with atresia and reabsorption of the exteriorized bowel in most cases.

From 1991 to 2020, 39 cases of VG type D have been described in the literature, of which 19 (48.7%) patients were alive at the time of publication, but only 5 cases were described with a long-term follow-up of 3 years or more. In 10 cases (25.6%), the newborn had an explorative laparotomy and comfort care only, and the patients died within a few days after their birth. In 12 cases (30.8%), the children had TPN-related complications from cholestasis until hepatic failure, and two cases benefited from hepatic transplant. The surgical management was dependent on the remaining length of the small bowel, the presence of a dilated bowel, or the presence of an ileocecal valve. Some children benefited from a bowel-lengthening procedure, which could be an autologous gastrointestinal reconstruction, a serial transverse enteroplasty (STEP), spiral Intestinal lengthening and tailoring, longitudinal intestinal lengthening and tailoring (SILT, LILT, or Bianchi procedure), or an intestinal transplant. ⁶ This category of patients had the highest mortality rate at around 70%. ⁷

In 2013, Kumar et al. ⁸ proposed a different classification that included three forms of intestinal atresia. They classified three types of VG: type I, VG without intestinal atresia; type II, VG with intestinal atresia; and type III, antenatal evidence of gastroschisis with a total absence of midgut at birth. VG can be surgically managed differently according to this classification. For type III, there is a total absence of midgut with dilated proximal bowel and microcolon, as in our case, and a staged surgical approach with intestinal lengthening is suggested.

In children with VG, the extensive intestinal failure implies a vital threat due to the SBS postnatally. The prenatal diagnosis of VG can be very different between patients. A criterion for alarm should be progressive intra-abdominal dilatation of an intestinal loop, which can progress relatively slowly.

Antenatal magnetic resonance imaging (MRI) that nowadays is becoming routinely performed in most centers could be very informative in better understanding the fetal anatomy.

The prognosis of VG depends on the combination of defects. Mortality rates range between 28% and 50%, in contrast to those with “simple gastroschisis,” who have documented survival rates approaching 100%. ⁴

Summary of recommendations for practice and research

• • What is already known:

• VG is a rare entity; 53 cases are described in the literature, of which only 5 of type D, with a long-term follow-up. The prognosis is worse than in the “classic” gastroschisis due to the association with the SBS.

• • What this study adds and what needs to be studied:

• The long-term follow-up for these patients.

• • What can we do today that would guide caregivers in the practice setting considering the use of this evidence for guiding practice (how this study might affect research):

• Close antenatal monitoring may help to avoid severe bowel loss in some cases, likely making it the best approach. Patients with closed VG and intestinal atresia could be well managed with a staged approach, including multiple surgical interventions.

Conclusion

Close antenatal monitoring may help to avoid severe bowel loss in some cases, likely making it the best approach. Patients with closed VG and intestinal atresia could be well managed with a staged approach, including multiple surgical interventions.