Newborn with dysmorphic signs, small palpebral fissure, abnormal implantation of the thumb of her left hand, respiratory distress syndrome, tachypnoea, and cyanosis.
Second pregnancy of healthy 27 year old mother. The pregnancy was uneventful until the third trimester, when polyhydramnios and intrauterine growth retardation were detected by antenatal ultrasound. The child was born by uncomplicated delivery at 37 weeks of gestation. Apgar scores were 6 and 8. Birth weight: 1730 g. Ambu-bag resuscitation was necessary. Physical examination showed dysmorphic signs, including: small palpebral fissure and abnormal implantation of the thumb of her left hand, along with respiratory distress syndrome, tachypnoea, cyanosis, copious secretions, and a scaphoid abdomen.
Chest radiography was performed soon after birth (Fig. 1), and showed the nasogastric tube tip within the proximal oesophagus, and an absence of gastrointestinal air. Oesophageal atresia without a distal fistula was suspected. The x-ray study also showed diffuse granular opacity in the lungs, consistent with surfactant deficiency.
A radiograph of the infant's left hand demonstrated absence of the 1st metacarpal and a tri-phalangeal thumb (dysplastic thumb) (Fig. 2).
An echocardiogram (performed at another hospital) detected the presence of interventricular communication and patent ductus arteriosus.
Terminal oesophagostomy and gastrostomy were performed 4 days after birth; no fistula was identified from the oesophagus to the trachea, confirming the diagnosis was oesophageal atresia type A.
Oesophageal atresia and tracheo-oesophageal fistula is a complex of congenital anomalies characterised by incomplete formation of the tubular oesophagus. The precise cause of this complex is unknown, but it is thought to be a developmental disorder in the formation and separation of the primitive foregut into the trachea and oesophagus. There is an error in embryogenesis in the 5th week of pregnancy.
Approximate incidence is 1/3000 to 4500 live newborns.
The sex incidence is equal.
Different types of oesophageal atresia are identified on the basis of the presence (and location) or absence of a tracheo-oesophageal fistula.
- Type A: atresia without fistula (8%)
- Type B: atresia with proximal fistula (1%)
- Type C: atresia with distal fistula (80%)
- Type D: atresia with proximal and distal fistulae (1%)
- Type E: fistula without atresia (4%)
About half the children have other associated malformations and the VACTERL complex (Vertebral disorders, Ano-rectal malformations, Cardiovascular anomalies, Tracheo-oesophageal fistula, Radial/Renal dysplasia, Limb defects) is the best known group of anomalies associated with oesophageal atresia.
Typical clinical findings are failure to successfully pass a catheter into the stomach, regurgitation, inability to swallow saliva or milk, aspiration, respiratory distress, aspiration pneumonia (usually located in the right upper lobe).
Radiologic diagnosis is based on findings at anteroposterior and lateral chest radiography wich reveals a blind pouch of the proximal oesophagus, distended with air. Radiographic evaluation should always include the abdomen to asses the presence of air in the gastrointestinal tract (distal fistula). In types A and B there is complete absence of gas in the stomach and intestinal tract; in types C and D, the gastrointestinal tract usually appears distended with air.
The type of oesophageal atresia is confirmed by advancing a radiopaque feeding tube from the nose to the level of the atresia. The tube will curl when it approaches the blind end. Rigid bronchoscopy is performed to confirm the anatomy, to evaluate for a proximal fistula and to control the distal fistula.
During pregnancy, oesophageal atresia may be suggested by the presence of a combination of polyhydramnios, reduced intraluminal liquid in the fetal gut and inability to detec the fetal stomach at prenatal US.
The treatment is surgical and the anatomy of the esophageal atresia, with or without a tracheoesophageal fistula, should be shown before surgery. In healthy neonates the ideal treatment consists of division and closure of the fistula with primary repair of the atresia, but a staged repair is frequently necessary in those with low birth weight, severe respiratory distress, a long gap between the proximal and distal esophagus, or severe accompanying anomalies.
Prognosis depends on the severity of accompanying malformations and ventilatory dependence before surgery.
A single follow-up oesophagogram 4 to 6 weeks after surgery helps to identify any early stricture formation that may benefit from dilatation prior to the initiation of solid foods.
There may be complications after surgery such as dysphagia caused by abnormal oesophageal motility, hiatal hernias and gastroesophageal reflux and focal tracheomalacia.
Differential Diagnosis List
Oesophageal atresia type A.
Oesophageal atresia type A.