Duodenal atresia (DA) is a congenital intestinal obstruction that may involve the entire lumen of the duodenum, leading to vomiting and intolerance to enteral feeding within the first 24–48 hours of life. Epidemiologically, it occurs in approximately 1 in every 5,000 to 10,000 live births [1], affects males more frequently than females, and is commonly associated with congenital anomalies such as trisomy 21, congenital heart defects, and VACTERL association [2,3]. Embryologically, it results from failure of recanalization of the solid core of the duodenum [3]. Prenatally, several diagnostic tools can be used, including ultrasonography, where findings such as the “double bubble” sign and polyhydramnios may suggest the diagnosis. Postnatally, an abdominal radiograph demonstrating the double bubble sign has a high positive predictive value, and in the absence of a prenatal diagnosis, confirmatory imaging such as an esophagogastroduodenal contrast study may be required [1].

Preoperative medical management involves placement of an orogastric tube for proximal gastric and duodenal decompression, fluid resuscitation, and correction of electrolyte imbalances to optimize surgical outcomes [1]. The definitive treatment is surgical and is primarily based on creating a diamond-shaped anastomosis via a proximal transverse duodenotomy and a distal longitudinal duodenotomy. This bypass procedure avoids injury to the common bile duct, pancreas, main pancreatic duct, and accessory pancreatic duct. Surgical complications of duodenoduodenostomy include gastroesophageal reflux, megaduodenum, and altered duodenal motility. A complete surgical evaluation includes the search for additional sites of intestinal obstruction [1]. Definitive management consists of surgery (duodenostomy) to restore intestinal continuity and allow appropriate feeding [3], with the surgical approach individualized according to the patient’s clinical presentation. Postoperative care and surgical follow-up are essential to impact patient outcomes and prognosis.

The cases presented in this article involve chromosomal abnormalities such as prenatally diagnosed trisomy 21 (Down syndrome), as well as one case admitted late with failure to thrive and another with an atypical presentation of “Christmas tree” atresia and microcolon. The following are the three cases.

Female neonate with antenatal diagnosis of trisomy 21, suspected duodenal atresia (double-bubble sign without polyhydramnios), and high suspicion of aortic coarctation based on genetic studies including karyotype (47,XX,+21), FISH showing three copies of chromosome 21, and microarray ARR (GRCh38)21P11.2122.3 (9371576_46680234)x3. Maternal prenatal infectious profile was negative for syphilis, hepatitis, Chagas disease, and HIV, but non-immune for toxoplasmosis; group B Streptococcus (GBS) was positive. The 34-year-old mother (blood type O+) was in her second pregnancy after a previous early spontaneous abortion.

Delivery was via spontaneous vertex at 38+4 weeks; GBS prophylaxis was administered due to prenatal diagnosis of trisomy 21. Birth weight was 2,495 g (p6.1), length 46 cm (p7.5), head circumference 32 cm (p12.8), abdominal circumference 29 cm. APGAR scores were 8/8; the infant required CPAP with FiO? 100 % due to generalized intercostal retractions, and was later intubated with a 3.5-cm tube and transferred to the neonatal intensive care unit (NICU). She was made NPO with an orogastric tube (OGT) to gravity drainage; chest radiograph post-epicutaneous catheter, transthoracic echocardiogram, cranial ultrasound, renal ultrasound, serum electrolytes, renal function, and bilirubin were ordered at 72 h of life. Blood cultures were taken due to sepsis risk, and prophylactic amikacin + ampicillin was initiated along with IV fluids. Respiratory therapy, pediatric surgery, and genetics were consulted.

On NICU examination the patient had Down syndrome facies with brachycephaly, low-set ears (no pre-auricular appendages), patent external auditory canal, epicantal folds, redundant nuchal fold, and no masses. Cardiac rhythm was regular with a grade II/VI mesosystolic murmur. There was stridor, subcostal retractions, soft non-distended, non-tender abdomen, sandal gap deformity, and generalized hypotonia with appropriate reactivity. OGT protocol: if drainage exceeded 13 mL over 6 h, replacement with IV Hartmann’s solution 1:1 was ordered.

Echocardiography showed no aortic coarctation, patent ductus arteriosus (3 mm) with left-to-right shunt, estimated pulmonary pressure 42 mmHg, 2-mm ostium secundum ASD, normal ventricular function, indirect signs of pulmonary hypertension, and unobstructed aortic arch. Renal and urinary tract ultrasound were normal; cranial ultrasound showed right germinal matrix hemorrhage grade I.

Figure 1: Chest abdominal X-ray on day 1 of life.

At 2 days of life the patient underwent surgery under general anesthesia. Intraoperative findings: complete duodenal atresia, annular pancreas, dilated atonic proximal duodenum, and distal intestine with disuse atrophy. A diamond-shaped duodeno-jejunostomy was performed.

Figure 2: Intraoperative image of duodenojejunal anastomosis.

On postoperative day (POD) 1 abdominal X-ray showed improved air progression into the distal intestine via the anastomosis.

Figure 3: Postoperative X-ray shows gas progressing into the distal duodenal region.

On POD 3 an EKG was ordered due to bradycardia and showed reactive sinus bradycardia due to opioid use (morphine), without signs of heart failure, hypoperfusion, vasopressor requirement, infection, or SIRS. Fluid balance was positive, urine output adequate, and spontaneous bowel movements present. OGT output was scant bilious, so intermittent clamping challenges were started (every 4 h for 2 h, then every 6 h for 2 h) up to POD 7. After clinical improvement with three doses of corticosteroid and minimal-setting mechanical ventilation, she was extubated to low-flow nasal cannula.

On POD 10 enteral feeding was restarted without complications. Supplemental oxygen was discontinued, and physical therapy was initiated.

On POD 14, due to progressive tolerance of feeds and appropriate gastrointestinal function, the surgical team discharged her to pediatric and neonatal care.

Given favorable clinical evolution, the patient was discharged on POD 25 tolerating 45 mL of breast milk and comfort formula, with adequate bowel movements.

Female newborn with no significant perinatal history. The mother’s infectious profile during pregnancy was negative; she was non-immune to toxoplasmosis. Prenatal ultrasounds revealed no anatomical abnormalities. The mother was 24 years old, blood type O+, and this was her second pregnancy after a previous miscarriage.

The infant was born at another institution with a birth weight of 2,710 g (p13), length 48 cm (p34), head circumference 34 cm (p70), chest circumference 32 cm, and abdominal circumference 30 cm. Urinary output and meconium passage were present at birth. Blood type was O+. Newborn screening tests for hearing, congenital heart disease, and metabolic disorders were normal. Physical examination showed no abnormalities.

She was admitted to our institution at 27 days of life, referred by her insurance provider due to a one-month history of emesis, initially small in amount but increasingly more frequent and voluminous. At 9 days of life, she had first presented to a tertiary-care referral hospital where abdominal radiographs suggested partial intestinal obstruction, possibly due to Ladd’s bands or a duodenal web, and abdominal ultrasound was normal (pylorus not visualized). She was discharged with an outpatient referral to pediatric surgery and pediatrics.

At a follow-up appointment at 15 days of life, she showed poor weight gain and persistent vomiting. Gastroesophageal reflux was suspected and conservative measures were recommended, but due to continued vomiting, dehydration, and failure to thrive, she presented again to a medium-complexity emergency department from which she was referred to our center.

On Admission Examination

Symmetric chest without retractions; regular heart rhythm without murmurs; preserved vesicular breath sounds without adventitious noises; soft, non-distended abdomen without organomegaly or tenderness; healthy umbilical stump; normoconfigured female genitalia; anal opening present. She appeared moderately dehydrated, neurologically intact, and had poor weight gain, admitted at 2,620 g with failure to thrive.

Pediatric surgery was consulted and ordered an upper GI series to determine need for surgical management. Labs revealed mildly elevated lactate (5.5 mmol/L), borderline sodium (135 mEq/L), negative inflammatory markers (WBC 8,260/μL, CRP negative), normal liver enzymes, bilirubin within normal limits, and serum electrolytes without notable alterations; arterial blood gases showed mild metabolic acidosis.

The following day, contrast study showed delayed gastric emptying and suboptimal opacification of the stomach, without complete passage of contrast through the duodenum, likely due to a partial duodenal obstruction. A delayed study was recommended to assess intestinal transit over time. Anteroposterior upper GI radiography demonstrated persistent contrast in the gastric chamber towards the antropyloric region five hours after ingestion, with distension of the stomach and suboptimal emptying. Distal small bowel loops showed contrast, confirming partial intestinal permeability, findings likely corresponding to subocclusion of the duodenum versus gastric motility disorder.

Figure 4: Intestinal transit study: Signs of delayed transit and suboptimal opacification of the stomach, with no evidence of complete passage through the duodenum, likely due to partial duodenal obstruction.

Figure 5: Upper gastrointestinal series: persistence of contrast medium within the gastric chamber extending to the antropyloric region 5 hours after ingestion. Suboptimal emptying of a distended gastric chamber is observed.

The patient underwent surgery three days after admission, following the pertinent studies. Intraoperative findings revealed type I duodenal atresia due to a duodenal diaphragm with severe obstruction. A diamond-shaped duodeno-jejunostomy was performed using 6–0 PDS sutures, with confirmed hemostasis and anastomotic patency. Postoperatively, she was transferred to the neonatal intensive care unit (NICU).Early postoperative evaluation showed no leukocytosis or anemia, normal arterial blood gases, and serum electrolytes remarkable only for mild hyponatremia. Orogastric tube drainage was bilious, confirming duodenal patency. Management included gastric rest and total parenteral nutrition.

On postoperative day (POD) 4 the patient was extubated, well tolerated, without irritability from hunger. Over the next three days she remained clinically stable on TPN, nil per os, without positive-pressure ventilation, with normal inflammatory markers, present peristalsis and bowel movements.

On POD 9, intermittent clamping trials of the orogastric tube were initiated, with enteral nutrition covering >50% of intake and continued bowel movements; enteral feeding was thus commenced on POD 10.

By POD 15, at a weight of 3,135 g, she was evaluated by the pediatric surgery team and cleared for transfer to perinatology due to good tolerance of gradual oral feeds. She was discharged on POD 20 weighing 3,250 g, non-toxic in appearance, hemodynamically stable, without abdominal distension, and with a clean surgical wound free of inflammation or infection.

Female infant born to a 35-year-old mother, blood type O+, first pregnancy, with unremarkable prenatal check-ups and a negative infectious profile (non-immune to toxoplasmosis).

She was delivered preterm at 31 + 3 weeks of gestation due to preterm labor (PTL) secondary to premature rupture of membranes (PROM), via spontaneous vertex delivery, without prolonged membrane latency. Birth weight was 1750 g (p74), appropriate for gestational age; head circumference at p80 and length at p61. APGAR scores were 7-8-9. She presented with hypoxemia and signs of respiratory distress (grunting, nasal flaring) requiring CPAP with FiO? 70%, which was later decreased to 40%; however, due to persistent respiratory distress syndrome (RDS), she was intubated with a 3.5 cm endotracheal tube and given surfactant. Initial physical examination showed no abnormalities.

Within a few hours of life she remained hemodynamically stable, with preserved urine output but no passage of meconium. Enteral feeds were withheld. Laboratory studies were within normal limits. A chest and abdominal X-ray to confirm endotracheal tube placement showed air in the stomach and proximal intestine without distal gas; therefore, a follow-up abdominal radiograph was ordered for the next day.

Figure 6: Initial X-ray showing poor distal air progression.

Figure 7: Abdominal X-ray after 24 hours of life confirming the double-bubble sign and possible duodenal atresia.

Based on clinical findings, physical examination, and diagnostic imaging, an intestinal obstruction was suspected, and pediatric surgery was consulted. Upon evaluation, the surgical team considered the abdominal X-ray findings to be highly suggestive of duodenal atresia. Surgery was scheduled for day of life three, and a follow-up X-ray was obtained preoperatively.

Figure 8: Preoperative portable abdominal X-ray: double-bubble sign compatible with duodenal atresia.

The surgical procedure was performed under general anesthesia. Intraoperative findings revealed complete fourth-portion duodenal atresia, along with a “Christmas tree” type intestinal malformation, with a total of 80 cm of small bowel and three proximal intestinal atresias involving a segment of <4 cm. The 3 cm segment containing the atresias was resected, and the remaining distal bowel was found to be atrophic from disuse. A “cobra head” jejuno-duodenal anastomosis was performed using 6-0 PDS sutures in a vascular configuration, with adequate air passage across the anastomosis.

Figure 9: Duodenojejunal anastomosis.

Figure 10: Christmas tree type duodenal atresia malformation.

She was transferred to the NICU and placed on invasive mechanical ventilation, with stable hemodynamic status, no vasopressor support, and no signs of low cardiac output. Analgesia was provided on a scheduled basis with sedation as needed.

On postoperative day (POD) 3, planned extubation was performed and was well tolerated.

By postoperative day 10, intermittent clamping of the orogastric tube every 6 hours was initiated, with positive bowel movements, partial tolerance, and some emetic episodes.

By August 15 postoperative day 18 for this complex intestinal malformation enteral feeding trials with Neocate were started and the orogastric tube remained clamped; meconium passage was present. The patient weighed 1,825g at that time. She remains hospitalized with favorable clinical evolution, without signs of low output, undergoing intestinal rehabilitation.

Duodenal atresia (DA) is one of the main causes of high intestinal obstruction in the neonatal population, with an estimated incidence of 1 in every 5,000 to 10,000 live births worldwide [3]. It typically affects the proximal intestine and results in complete absence of duodenal lumen. Approximately 30 to 40 % of children with duodenal atresia have Down syndrome, and the prevalence of congenital duodenal atresia in patients with trisomy 21 is around 3 %. Etiologically, vascular anomalies and failure of duodenal recanalization should be considered, although the exact origin remains unknown. It’s important to consider the classical classification of duodenal atresia based on anatomical continuity [1]:

Figure 11: (A) normal duodenum; (B) type I: intestinal continuity with luminal obstruction or stenosis; (C) type II: discontinuity of the intestine bridged by a fibrous cord; (D) type III: complete separation of intestinal segments.

This article describes three clinical cases with notable clinical heterogeneity and surgical management of this condition, treated in a high-complexity center in Medellin, Colombia. According to the literature, up to 50-70 % of patients with duodenal atresia present associated anomalies, most frequently trisomy 21, congenital heart disease and annular pancreas [3], as well as associations with VACTERL anomalies. The three cases described here were complex due to factors such as low birthweight, gestational age at birth, ventilatory support requirements, and associated chromosomal or intestinal malformations; nonetheless, all achieved favorable outcomes after multidisciplinary surgical management.

Case 1 involved a patient with trisomy 21 and prenatal suspicion of duodenal atresia subsequently confirmed intraoperatively as type II disease associated with annular pancreas, a characteristic frequently associated with this anatomic malformation. In contrast, the other two cases (Cases 2 and 3) had no prenatal suspicion of chromosomal or structural abnormalities, and diagnosis was made incidentally and at a later stage, demonstrating that the clinical presentation may vary considerably and complicate diagnosis in the absence of the classic “double bubble” sign.

Differential diagnosis should be guided by the patient’s clinical presentation and imaging findings, and must include consideration of duodenal stenosis, annular pancreas, and especially intestinal malrotation due to midgut volvulus, which compromises superior mesenteric artery flow to the distal intestine. Other gastrointestinal anomalies associated with Down syndrome such as anal atresia, Hirschsprung disease, congenital diaphragmatic hernia and omphalocele must also be investigated [1].

Prenatal ultrasonographic diagnosis permits surgical planning and has improved prognosis [4]; however, in our series only one out of three cases was suspected prenatally. This diagnostic gap, commonly reported in middle-income countries, underscores the need to improve prenatal ultrasound surveillance. All three patients manifested clinical signs of intestinal obstruction, most rapidly and markedly in the preterm infant (Case 3), related to continuous NICU monitoring.

Surgery remains the corner-stone of treatment, as duodenal atresia is a major cause for urgent neonatal surgery, and delays can lead to aspiration pneumonia and malnutrition [8]. All our patients underwent diamond-shaped duodeno-jejunostomy, a technique shown to result in better functional outcomes and lower rates of postoperative stenosis [1-3]. Postoperative care described in the literature includes use of continuous orogastric drainage with or without total parenteral nutrition (TPN); if drainage becomes scant, the tube may be removed and enteral nutrition commenced. It is important to recognize that the timing for enteral feeding resumption varies widely depending on individual patient characteristics [1].

Following successful surgical management of duodenal atresia, late complications occur in up to 12 % of cases and late mortality in 6 % [1]. No mortality was observed in our series. Time to enteral feeding restoration varied considerably, from 7 days to 18 days in the most complex case, due to anatomical complexity and prematurity consistent with reports of prolonged postoperative ileus in up to 30 % of cases [3].

Over the past three decades, mortality associated with duodenal atresia has substantially decreased, currently ranging between 2 % and 5 %, particularly in cases with associated congenital heart disease. Survival continues to improve owing to multidisciplinary management, neonatal intensive care, nutritional support, and comprehensive pediatric care [1,4]. In this series, all neonates survived and demonstrated adequate nutritional and neurologic adaptation, indicating that management in high-complexity centers has a positive impact on outcomes in these patients.

Duodenal atresia is a rare malformation that requires a high index of suspicion, early diagnosis, and comprehensive management. Our cases illustrate the benefit of a multidisciplinary approach and prompt surgical treatment in specialized centers to improve survival and reduce morbidity.

Conflicts of Interest

The authors declare no conflicts of interest.

1. Sigmon DF, Eovaldi BJ, Cohen HL. Duodenal Atresia and Stenosis. In: Stat Pearls. Treasure Island (FL): Stat Pearls Publishing. 2023.
2. Miscia ME, Lauriti G, Lelli Chiesa P, Zani A. Duodenal atresia and associated intestinal atresia: a cohort study and review of the literature. Pediatr Surg Int. 2019; 35: 151-157.
3. Choudhry MS, Rahman N, Boyd P. Atresia duodenal: anomalias asociadas, diagnostico prenatal y pronostico. Pediatr Surg Int. 2009; 25: 727-730.
4. Musapudi EM, Mujinga DT, Ilunga GN. Occlusion neonatale par diaphragme duodenale: A propos dun cas. Pan Afr Med J. 2016; 25: 85.
5. Jones MLM, Sarila G, Chapuis P, Hutson JM, King SK, Teague WJ. The Role of Fibroblast Growth Factor 10 Signaling in Duodenal Atresia. Front Pharmacol. 2020; 11: 250.
6. De Grazia E, Di Pace MR, Caruso AM, Catalano P, Cimador M. Different types of intestinal atresia in identical twins. J Pediatr Surg. 2008; 43: 2301-2304.
7. Bulas DI. Up To Date. Prenatal diagnosis of esophageal, gastrointestinal, and anorectal atresia. 2024.
8. Oh C, Lee S, Lee SK, Seo JM. Laparoscopic duodenoduodenostomy with parallel anastomosis for duodenal atresia. Surg Endosc. 2017; 31: 2406-2410.