Congenital short bowel syndrome: a rare cause of neonatal intestinal obstruction

Introduction

The precise definition of short bowel syndrome (SBS) has not been fully determined. Nevertheless, SBS is best defined as a multisystemic disorder that is caused by malabsorption of nutrients, resulting from a diminished small intestinal length of less than half of the expected length for gestational age. ¹ Fortunately, SBS is rare, but it is a serious condition. Most cases of SBS are secondary to a pathology, such as necrotising enterocolitis, gastroschisis, midgut volvulus, or intestinal atresia. ² Congenital short bowel syndrome (CSBS) is an exceedingly rare subtype, where to the best of our knowledge, only 62 cases have been reported in the English literature to date. ³ We report here a case of CSBS in a 26-day-old girl who had malrotation and a short bowel from the pylorus to the caecum of approximately 40 cm.

Case report

A 26-day-old girl presented to our department with persistent vomiting, which started initially as non-bilious and became bilious in the previous 2 days. She was delivered via caesarean section at 33 weeks of gestation to nonconsanguineous parents and her birth weight was 2.25 kg. Her parents reported that they sought medical advice 2 weeks previously because of the persistent non-bilious vomiting and received supportive treatment, but it was not successful. On examination, she showed signs of dehydration and failure to thrive, and weighed only 1.6 kg. The abdomen was distended and non-tender.

An upper gastrointestinal series showed a hugely dilated stomach with secondary reflux up to the level of the cervical oesophagus and malrotation, where the duodenojejunal flexure was positioned in the right midabdomen (Figure 1). After resuscitation, the patient was prepared for surgery.

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Figure 1.

Upper gastrointestinal series showing a dilated stomach and malrotation, where the duodenojejunal flexure is positioned in the right midabdomen.

Exploration confirmed malrotation, and consequently, she underwent Ladd’s procedure. The small bowel length was 40 cm from the pylorus to the ileocecal junction (Figure 2). The length of the small bowel was assessed from the pylorus because the duodenojejunal junction was not clearly identifiable after kocherisation of the duodenum. After 3 months of follow-up, the patient had a small increase in weight (approximately 120 g) and still suffers from infrequent attacks of non-bilious vomiting every several days. She is currently receiving enteral feeding via a gastric tube, which started at a low concentration and increased to 0.67 kcal/mL. However, the patient is still dependent on parenteral nutrition.

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Figure 2.

Intraoperative photograph showing a dilated stomach (*) and malrotation with the ileoceacal valve (x) on the left side beside the stomach.

Discussion

SBS is a complication of many paediatric surgical conditions, such as necrotising enterocolitis, gastroschisis, midgut volvulus, and intestinal atresia. ² CSBS is a small bowel shortage that is present since birth with preserved bowel continuity and it is an exceedingly rare subtype. ³

There is no consensus on the definition of SBS. However, a bowel length of less than 100 cm in the first year can establish the diagnosis of SBS and less than 40 cm traditionally indicates therapy in most centres. ⁴ Some centres consider gestational age, rather than absolute numbers, for SBS, and clearly define SBS as a diminished small intestinal length of less than half of the expected length for gestational age. ¹

Most CSBS cases present with diarrhoea, vomiting, failure to thrive, or manifestations consistent with intestinal obstruction. ⁵ Malrotation is a relatively common feature in CSBS, where it was encountered in all but one case. ³ , ⁶ Malrotation could be a possible cause of early embryological insult and it subsequently results in impairment of growth of the midgut with resultant vascular occlusion. ⁷ Because malrotation is almost always present in CSBS, an upper gastrointestinal contrast study should be performed to confirm its presence. ³ If CSBS is present, Ladd’s procedure should be performed to prevent intestinal obstruction and possible volvoulus. ³

The mainstay treatment of CSBS cases is parenteral nutrition with an attempt of early introduction of enteral feeding. ⁸ Although parenteral nutrition is crucial for providing essential calories for growth, parenteral delivery has potential complications, with sepsis as the main cause for morbidity and mortality. ⁹ Early in the postoperative period for CSBS, an adaptive response typically occurs, which increases the length and absorptive capacity of the remaining bowel. This process alone is often sufficient to provide intestinal autonomy. However, when adaptation is insufficient to achieve enteric autonomy, several surgical options, such as bowel lengthening procedures can be performed, and may obviate the need for intestinal transplantation. ¹⁰ The prognosis of CSBS highly depends on the length and function of the remaining segment of the small bowel. ¹¹ Regrettably, only one third of patients with CSBS have survived to an average age of 5.8 years and most of the deaths occurred before 1 year of age. ⁶ , ¹² Fortunately, reports have shown a significantly improved survival rate for patients with CSBS in the past 20 years. ⁶ This is likely due to improvement in the standards of parenteral nutrition therapy along with development of novel formulas, which not only promote early administration of enteral feeding, but also facilitate intestinal adaptation. ¹³

In summary, CSBS is a rare condition that may present with symptoms of small bowel obstruction in the first weeks of life. An upper gastrointestinal study can confirm the presence of malrotation and suggest a short bowel length. Nevertheless, the diagnosis of CSBS is typically established in laparotomy.