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Asplenia Syndrome with Congenital Microgastria and Malrotation

CASE PRESENTATION

A 2795-g infant was born to a 20-year-old gravida 3, para 0 mother at 40 weeks gestation by Caesarean section following failed induction. The child was noted to be profoundly cyanotic within minutes of birth, was started on Prostaglandin E1 and transferred to this hospital. An initial chest and abdominal radiograph were obtained (Figure 1). A cardiac catheterization demonstrated pulmonary atresia, double outlet right ventricle with a large VSD with single ventricle physiology, total anomalous pulmonary venous return to the inferior vena cava, bilateral superior venae cavae and pulmonary artery branch stenoses. Because of this, the child was taken to the operating room where a right modified Blalock Taussig shunt, left atrial reimplantation of total anomalous pulmonary veins and repair of bilateral branch pulmonary artery stenoses. Subsequently, an abdominal sonogram (Figure 2) and upper gastrointestinal series (Figure 3) were performed.

Figure 1
figure1

AP chest and abdomen. A transverse liver is noted, with the nasogastric tube ending in a right upper quadrant almost midline stomach. The heart size is normal with an upper lifted apex and a left aortic arch. There is bilateral perihilar infiltrate with fluid in the minor fissure, probably wet lung related to the Caesarean section delivery.

Figure 2
figure2

(a, b) transverse scans, (c) longitudinal scan left upper quadrant. The transverse liver is again seen on image A. Image B demonstrates a left upper quadrant gallbladder (G) and a small amount of ascites probably related to the congenital heart disease. A normal appearing intrahepatic portion of the inferior vena cava (IVC) is seen in image C. No spleen was identified in the abdomen sonographically.

Figure 3
figure3

(a) Anteroposterior abdomen during UGI, (b) anteroposterior esophagus during gastroesophageal reflux. A tubular small stomach is present with a short antrum (arrows). The stomach is located almost in the midline. The duodenum is malrotated (arrowheads). Free gastroesophageal reflux is seen into a dilated esophagus (E).

DENOUEMENT AND DISCUSSION

The abdominal sonogram and plain radiographs demonstrated a transverse liver. Additionally the sonogram showed a left upper quadrant gall bladder, normal intrahepatic portion of the inferior vena cava and no discernible spleen. Given the heart disease and sonographic findings, a diagnosis of asplenia syndrome was made. The upper gastrointestinal series demonstrated congenital microgastria with a tubular stomach with a short antrum, located in the midline, and intestinal malrotation. The child was taken to the operating room after having stabilized from the cardiac surgery. A Ladd's procedure with lysis of duodenal adhesions was performed. A gastrostomy tube was placed. The absence of the spleen and microgastria were confirmed. Because of the child's tenuous cardiac status, no further surgery was done.

Asplenia syndrome is a syndrome of right isomerism or attempted bilateral right sidedness.1 Bilateral right-sidedness is manifest as bilateral trilobed lungs, bilateral right atrial appendages, transverse liver and absence of the spleen.1,2 Asplenia syndrome is usually associated with severe congenital heart disease including complete atrioventricular canal, transposition of the great arteries, anomalous pulmonary venous drainage and pulmonic or less commonly aortic stenosis or atresia. Because of the severity of the heart disease and the immune defect from absence of the spleen, the mortality among patients with asplenia is high.3

Intestinal malrotation and malfixation are present in essentially all patients with asplenia syndrome.1,4 A prophylactic Ladd procedure is recommended to prevent the occurrence of midgut volvulus.1 In addition gastric volvulus5 and microgastria also have been described in patients with asplenia syndrome. The risk of gastric volvulus is unknown although increased over patients with normal atriovisceral situs presumably because of lack of normal gastrolienal ligaments.

Congenital microgastria is a rare anomaly usually associated with other malformations, especially VACTERL association, asplenia syndrome, and multiple limb anomalies.6,7,8 Rarely, congenital microgastria has been reported in patients without other anomaly.9 Congenital microgastria can be characterized as a small, tubular or saccular appearing stomach without definite less and greater curvature and a widely open, incompetent gastroesophageal junction, allowing free reflux. The small stomach is usually located near the midline.5 Clinically, patients with microgastria present because of failure to thrive, vomiting and malnutrition. The mortality untreated is very high.5 The esophagus is usually dilated with an incompetent lower esophageal sphincter. It is likely that the esophageal dilatation is a compensatory mechanism to increase the reservoir capacity of the small stomach.5

Severe microgastria requires surgical intervention. This is usually done in the form of a food reservoir called a Hunt–Lawrence pouch, a procedure originally designed for patients after total gastrectomy. A food pouch is created from side-to-side anastomosed jejunal loops.10

Children with asplenia and microgastria may require staged surgery as in this case because of the severity of the congenital heart disease. Initially, Ladd procedure and gastrostomy were performed in this patient following Blalock Taussig shunt for palliation of severe cyanotic heart disease.

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Correspondence to Thomas E Herman MD.

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