EVAN S. FIELDSTON
HISTORY OF PRESENT ILLNESS
A 15-month-old girl was hospitalized for respiratory distress. She was well until 3 days prior to admission when she began coughing during a meal. She had moderate respiratory distress initially, which improved gradually. On the day of admission she had a fever to 39.5°C and worsening tachypnea. She received albuterol with some improvement in her respiratory status.
The patient was born at term after an uncomplicated pregnancy and delivery. She was diagnosed with reactive airways disease in infancy after three hospitalizations for wheezing. She received albuterol and prednisone for 5 days during each of those episodes. She also has mild gastroesophageal reflux (GER) diagnosed by a pH probe study at 7 months of age. An upper gastrointestinal barium study performed at that time was normal. Her symptoms of chronic cough improved after starting ranitidine at 11 months of age. At 12 months of age, she was treated with intravenous antibiotics for a right middle lobe pneumonia. She receives ranitidine for gastroesophageal reflux. She also received albuterol for wheezing approximately twice per week. A distant relative had been diagnosed with cystic fibrosis a decade ago and had died during infancy. There is no family history of atopic disease or asthma.
T 37.4°C; HR 110 bpm; RR 44/min; BP 103/65 mmHg; SpO2 96% in room air
Weight 16.5 kg (10th percentile); Height 105 cm (25th percentile)
Physical examination revealed a lean child in mild respiratory distress. There was no conjunctival injection. The sinuses demonstrated symmetric transillumination. The oropharynx was clear. There was no cervical lymphadenopathy. There were mild intercostal retractions with good aeration and mild diffuse wheezing. Breath sounds were slightly diminished in the right lower lobe. Cardiac examination was normal. There were no rashes or skin lesions. The remainder of the examination, including neurologic examination, was normal.
The girl’s white blood cell count was 18 300/mm3 with 9% band forms, 78% segmented neutrophils, and 13% lymphocytes. Her hemoglobin and platelet counts were normal. A blood culture was obtained, which was subsequently negative. Chest radiograph revealed a right middle lobe density. There was no hyperinflation or peribronchial thickening. A repeat upper GI barium study suggested the diagnosis (Figure 1-6A).
FIGURE 1-6A. Contrast esophagogram displays filling of the trachea through a small esophageal fistula (arrow), confirming presence of tracheoesophageal fistula without esophageal atresia, or H-type fistula.
DISCUSSION CASE 1-4
The most common cause of recurrent wheezing in infants and children is bronchospasm, including bronchiolitis, reactive airways disease, and asthma, triggered by viral infections. Gastroesophageal reflux (GER) with pulmonary aspiration is an important consideration. Beyond GER, other causes of recurrent aspiration include cricopharyngeal incoordination, submucosal cleft palate, seizures, neuromuscular disorders, and tracheoesophageal fistula (TEF). Esophageal obstruction due to webs or strictures may also predispose to recurrent aspiration.
Although bronchiolitis and poorly controlled reactive airways disease remain a consideration in this case, the frequency of wheezing episodes and recurrent pneumonia warrant further investigation. Cystic fibrosis should be excluded, particularly in light of the family history. The differential diagnosis also includes extrinsic obstructing lesions, such as mediastinal lymphadenopathy, diaphragmatic hernia, and vascular rings. Intraluminal obstructing lesions can occur in this age group and include aspirated foreign body, bronchial papilloma or lipoma, and segmental bronchomalacia. The history of recurrent pneumonia may be a sign of underlying primary immunodeficiency, such as agammaglobulinemias, dysgammaglobulinemias, and phagocytic defects such as chronic granulomatous disease which, though typically inherited in an X-linked pattern, occasionally exhibits autosomal recessive inheritance. Infectious causes of recurrent or persistent pneumonia, such as Coxiella burnetti (Q fever), Histoplasma capsulatum, and Mycobacterium tuberculosis are less likely in this age group.
On direct questioning, her mother stated that the cough, although chronic, seemed worse when she drank liquids. This information, combined with a history of right middle lobe pneumonia, chronic cough, and recurrent wheezing, suggested chronic aspiration. The sweat test for cystic fibrosis was negative. The contrast esophagogram (Figure 1-6A) revealed filling of the trachea through a small esophageal fistula. The diagnosis is tracheoesophageal fistula (TEF) without esophageal atresia (EA), otherwise known as H-type fistula. In retrospect, her symptomatic improvement at 11 months of age coincided with her transition from a predominantly liquid to predominantly solid diet.
INCIDENCE AND ETIOLOGY
Esophageal atresia (EA) is characterized by incomplete formation of the esophagus and it is often associated with TEF, though not always (see Figure 1-6B for types of TEF with or without EA). TEF with or without EA occurs as a congenital abnormality in 1 per 3000 to 1 per 5000 live births. The most common form of TEF (proximal EA and distal TEF) occurs in 85% of cases. In this form, there is a blind esophageal pouch with fistula between the trachea and distal esophagus, with the fistula entering the trachea close to the carina. As the fetus tries to swallow amniotic fluid against a blind pouch, hypertrophy and dilatation occur. As a result, the trachea may be compressed, leading to tracheomalacia. The second most common variant is pure EA without a TEF (8% of cases). As the distal esophageal remnant is small, surgical repair is more challenging. H-type TEF (without EA) is the third most common variation (3%-5% of cases). It is most difficult to diagnose, especially when the fistula is long and/or oblique. Much rarer forms of EA with TEF (1% each) include EA with proximal TEF and EA with double TEF. In the former case, the esophagus connects to proximal trachea and the distal esophagus is underdeveloped. In the latter, the esophagus is noncontinuous, but each end forms a fistula to the trachea.
FIGURE 1-6B. Types of esophageal atresia (EA) and tracheoesophageal fistula (TEF). Types of esophageal atresia and tracheoesophageal fistula (incidence): (A) Type 1—esophageal atresia with distal tracheoesophageal fistula (87%); (B) Type 2, isolated esophageal atresia (8%); (C) Type 3, isolated tracheoesophageal fistula (4%); (D) Type 4, esophageal atresia with proximal and distal tracheoesophageal fistula (1%); and (E) Type 5, esophageal atresia with proximal tracheoesophageal fistula (1%). (Reproduced with permission from Lalwani AK. Current Diagnosis & Treatment in Otolaryngology: Head & Neck Surgery. 2nd ed. New York: McGraw-Hill; 2008.)
The anomalies arise from defective differentiation of the primitive foregut to the trachea and esophagus. The role of genetic factors is unclear; TEF has been described in siblings and identical twins. Autosomal dominant transmission has been reported in a few kindreds. Approximately 40% of infants with a TEF will have associated congenital anomalies, usually cardiac or gastrointestinal, including anal atresia, pyloric stenosis, duodenal obstruction, and malrotation. One cluster of congenital abnormalities, the VATER association (Vertebral anomalies, Anal anomalies, Tracheoesophageal fistula with Esophageal atresia, and Renal and Radial limb anomalies), is seen most often among infants of diabetic mothers.
Infants with an H-type TEF do not present in the neonatal period. Their symptoms are mild or moderate and persistent and include coughing, choking, and cyanosis with feedings. Because the tracheoesophageal connection is small, these symptoms usually occur with liquid or formula feeds. There is no dysphagia. Children with H-type TEF may have improvement of their symptoms when they transition from formula to more solid foods. Many children have recurrent episodes of pneumonia or pneumonitis due to aspiration of gastrointestinal contents through the fistula. On examination, abdominal distention occurs after crying as air traverses through the fistula into the stomach. Diffuse wheezing may be related to aspiration.
Unlike the patient in this case, infants with TEF and esophageal atresia are symptomatic from birth. They accumulate large amounts of oral secretions, which precipitate coughing, choking, emesis, and respiratory distress. Abdominal distention results from accumulation of intestinal air via the TEF. A flat, gasless abdomen suggests esophageal atresia either without a TEF or with an obliterated TEF that still requires surgical repair.
Nasogastric tube placement and chest radiography. Esophageal atresia with or without TEF is easily detected by attempted passage of a radiopaque 5 or 8 French nasogastric tube. The tube coils in the proximal pouch and is visible on chest radiograph. H-type TEF is more difficult to detect. Chest radiograph may show evidence of recurrent pulmonary aspiration, particularly in the right upper or right middle lobe.
Contrast esophagogram. H-type TEF can be visualized by this technique, although the study needs to be carefully performed. As in this case, an H-type TEF may be missed on the initial study and, therefore, requires a high level of suspicion.
Endoscopy. Endoscopic visualization may reveal an H-type TEF not demonstrated by esophagogram. The tracheal aspect of the fistula is located in the upper third of the posterior tracheal wall, appearing as a pit or crescent-shaped hole. Dyes, such as methylene blue, instilled into the trachea may be detected in the esophagus by endoscopy.
TEF with esophageal atresia. Esophageal atresia is treated with end-to-end or end-to-side anastomosis of the esophagus. A thoracoscopic approach has been proposed but requires further investigation. The timing of the operation and the choice of surgical approach depend on the infant’s size and the presence or absence of comorbid conditions. Primary repair is preferred but a staged repair during the first several weeks or months of life is recommended for preterm infants as well as those with comorbid conditions, such as congenital heart disease. A tracheostomy should be performed if a staged repair is planned.
Immediate postoperative complications following TEF with esophageal atresia repair include leakage at the anastomotic site causing mediastinitis or sepsis. Strictures at the anastomotic site may develop at any time and require repeated esophageal dilatation. Tracheomalacia at the fistula site is common, resulting in brassy cough and impaired clearance of secretions. Esophageal dysmotility and gastroesophageal reflux are common.
Recurrence of the TEF occurs in 4% to 10% of cases. The manifestations of a recurrent TEF are similar to the presentation of children with H-type TEF. Recurrent tracheoesophageal fistulas do not close spontaneously and, therefore, also require surgical ligation. Survival rate is 95% in those with good respiratory function and no major congenital anomalies. The survival rate in infants with moderate pneumonia or congenital anomalies in addition to the TEF is approximately 70%. In a series of 82 patients with TEF and esophageal atresia, Holder and Ashcroft found that 79% of patients were alive and taking food by mouth 3 to 15 years postoperatively.
H-type TEF. An H-type TEF requires surgical ligation. Postoperative complications, such as tracheomalacia, strictures, and mediastinitis, are uncommon after repair of an H-type fistula. The prognosis in children with H-type fistulas is excellent. Morbidity and mortality are related to the extent of chronic pulmonary disease in infants diagnosed later in life. Infants with multiple anomalies or those with severe respiratory disease have greater morbidity.
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