Congenital Bronchial Stenosis and
Atresia
Congenital stricture of the bronchus occurs predominantly in a main-stem or middle lobe bronchus.
Can produce acute or chronic pulmonary infection,atelectasis, and bronchiectasis.
Atresia is usually asymptomatic.

Congenital Bronchial Stenosis and
Atresia
It may present with recurrent infections.
The airway may be blocked by a simple membrane, or there may be a discontinuity.
It often results in cystic degeneration of the lobe distal to the obstruction.
The distal airspace is often cystic and filled with mucus, and it is typically in continuity with an area of distal hyperinflation.

Congenital Bronchial Stenosis and
Atresia
Bronchial atresia may be very difficult to distinguish from a CTM until the lesion is excised.
Failure to identify the congenital nature of the problem may lead to a misdiagnosis of mucus plugging.
Unlike the situation with absent bronchus, there is no focal opacity in congenital lobar emphysema. The continuity of the cyst with the distal airways and the hyperinflation of the distal lung distinguish absent bronchus from bronchogenic cyst.

Abnormal Bronchial Origin and
Bronchial Branching
Bronchi can arise from the GI tract.
Bronchial diverticula also possibly represent abnormal bronchial branching.
The right upper lobe bronchus can arise from the trachea, particularly in association with the TOF.
A tracheal origin of one or more of the right upper lobe bronchi (“pig bronchus”) is usually of no clinical significance but may be a cause of recurrent right upper lobe collapse in an intubated patient if the ETT is low.

Abnormal Bronchial Origin and
Bronchial Branching
The right lower lobe bronchus may also arise from the left bronchial tree, a “bridging bronchus.”
Lung segments may also cross over, with bronchial and arterial connections from the opposite side, usually from right to left.
The crossover may simply be of vessels and bronchi, or include a tongue of parenchymal tissue, the
“horseshoe” lung.

Disorders of Bronchial Laterality
The two most useful determinants of right lung morphology are the presence of three lobes, not two, and a very short main bronchus.
A third criterion is the presence of an eparterial bronchus (the branch of the right main bronchus given off about 2.5 cm from the bifurcation of the trachea, which supplies the superior lobe of the right lung).

Disorders of Bronchial Laterality
Isomerism : for example, bilateral right lung.
Nearly 80% of children with right isomerism (bilateral right lung) lack a spleen, leading to a risk of overwhelming pneumococcal sepsis.
A similar proportion with left isomerism (bilateral left lung) have multiple small spleens.

Disorders of Bronchial Laterality
Ivemark syndrome :
Right isomerism, asplenia, a midline liver, malrotation of the gut, common ventricle, totally anomalous pulmonary venous drainage, and bilateral superior caval veins and right atria.
Left isomerism :
Multiple small spleens (polysplenia),a midline liver, malrotation of the gut, partially anomalous pulmonary venous drainage, and cardiac septal defects.

Other Disorders of the Bronchial
Walls
Abnormalities in bronchial wall caliber.
Recurrent infections, steroid unresponsive wheeze, or stridor.

Congenital tracheobronchomegaly
(Mounier-Kuhn syndrome) :
Autosomally recessive.
More common in males.
Tracheomalacia.
Bronchiectasis.
Dilated major airways.
Middle age.
Recurrent respiratory infection.
It is occasionally associated with Ehlers-Danlos syndrome, cutis laxa, or Kenny-Caffey syndrome (thickening of the long bones, thin marrow cavities in the bones, and abnormalities affecting the head and eyes).

Complete
Cartilage Rings
There may be an associated pulmonary artery sling.
May require no treatment.
If ventilation is critically compromised surgical excision or a Z-plasty may be indicated.

Congenital Bronchomalacia
May be isolated, often with a good prognosis.
It may be associated with other congenital abnormalities
(including connective tissue disorders and Larsen and Fryn syndrome).
Bronchomalacia may also be secondary to other congenital abnormalities, such as vascular rings.
A rare cause of congenital tracheobronchomalacia is the presence of esophageal remnants in the wall of the trachea, generally associated with esophageal atresia and TEF.

Congenital Bronchomalacia
Fixed bronchial narrowing may be due to defects in the wall (e.g., complete cartilage rings) or extrinsic compression by an abnormal vessel or cyst.

Pulmonary Agenesis, Aplasia, and
Hypoplasia
Bilateral pulmonary agenesis is a rare malformation that may occur in anencephaly.
Unilateral pulmonary agenesis is slightly more common, with absence of the carina and the trachea running directly into a single bronchus.
Associated ipsilateral congenital abnormalities are common.

Pulmonary Agenesis, Aplasia, and
Hypoplasia
The mortality of right-sided agenesis is twice that of left-sided agenesis.
Unilateral pulmonary aplasia, the most common variant, consists of a carina and main-stem bronchial stump with absence of the distal lung.
Lobar agenesis and aplasia are rarer than complete absence of one lung and usually affect the right upper and middle lobes together.

Pulmonary Agenesis, Aplasia, and
Hypoplasia
Pulmonary hypoplasia consists of incompletely developed lung parenchyma connected to bronchi that may also be underdeveloped depending on when the presumed causal insult took effect in embryogenesis.

Pulmonary Agenesis, Aplasia, and
Hypoplasia
The alveoli are reduced in number or size (numbers are assessed by counting alveolar wall intercepts on a line from the terminal bronchiole to the interlobular septum).
However, hypoplasia is perhaps best considered to be present in term babies when the lung–to–body weight ratio is less than 0.012.
50% of associated diaphragmatic, cardiac, gastrointestinal, genitourinary, and skeletal malformations, as well as frequent variations in the bronchopulmonary vasculature.

Pulmonary Agenesis, Aplasia, and
Hypoplasia
Correction of any underlying abnormality, if feasible may permit growth of alveoli.
However, airway branching is complete by 16 weeks, so airways will not branch after a causal abnormality has been corrected, and because the airway pattern is abnormal, alveolar numbers are never likely to be normal.

Ectopia
Ectopia is the growth of normal tissue in an incorrect anatomic position.
Nonpulmonary tissues being present in the lung or lung tissue outside the thoracic cavity. Ectopic glial tissue is well recognized within the lung.
Adrenocortical tissue, thyroid, liver, and skeletal muscle have also been described in the lung, and pancreatic tissue has been found in intralobar sequestrations.
Ectopic lung tissue may be found in the neck, chest wall, and even in the abdomen, although some ectopias represent extralobar sequestrations.
Entire kidneys may also be intrathoracic in location.

Foregut (Bronchogenic) Cysts
Closed epithelium-lined sacs developing abnormally in the thorax from the primitive developing upper gut and respiratory tract.
Bronchogenic cysts are the most common cysts in infancy.
50% are situated in the mediastinum close to the carina.

Foregut (Bronchogenic) Cysts
Rarly , within the lung parenchyma, and exceptionally in sites such as below the diaphragm, pericardium, presternal tissues, and skin.
Usually single, unilocular, and more common on the right.
Symptoms often relate to compression of the airways or complications (e.g., hemorrhage or infection).

Foregut (Bronchogenic) Cysts
Microscopic examination shows a cyst lined by respiratory-type epithelium.
In the absence of cartilage, such a cyst should be termed a simple foregut cyst.

Congenital Cystic Adenomatoid
Malformation (CCAM)
Spectrum of variably sized cysts with differing histology.
1 in 25,000 and 1 in 35,000.
Pathologically, (types 0 to 4) have been proposed by
Stocker, the speculation being that they represent malformations that relate to insults at different levels of the airways.

Congenital Cystic Adenomatoid
Malformation (CCAM)
Type 0 CCAM
Termed acinar dysplasia.
Rare, incompatible with life, and typically associated with other abnormalities.
The lungs are small and firm, and histology shows bronchial-type airways with cartilage, smooth muscle, and glands .

Congenital Cystic Adenomatoid
Malformation (CCAM)
Type 1 CCAM
Type 1 is the most common type of CCAM and has the best prognosis.
Malformations are usually localized and affect only part of one lobe.
Most present in the perinatal period or in utero.
Cysts are usually multiloculated and range considerably in size, although type 1 CCAMs are larger than 2 cm in diameter by definition.

Congenital Cystic Adenomatoid
Malformation (CCAM)
Type 1 CCAM
Microscopically there is a sharp boundary between the lesion and the adjacent normal lung, but there is no capsule.
The cystic spaces are lined by pseudostratified ciliated columnar epithelium, and mucous cell hyperplasia is seen in 35% to 50% of cases.

Congenital Cystic Adenomatoid
Malformation (CCAM)
Type 1 CCAM
Hyperplasia is defined as mucous cell proliferation confined to the cyst, while extensions of this process into the alveolar parenchyma with lepidic growth pattern is classified as bronchioloalveolar which is rare
Therefore such proliferations should be regarded as mucinous adenocarcinomas, with a very good prognosis following complete resection.

Congenital Cystic Adenomatoid
Malformation (CCAM)
Type 2 CCAM
The second most frequent type.
Cause respiratory distress in 1 st month of life.
Associated with renal agenesis, cardiovascular defects, diaphragmatic hernia, and syringomyelia.
Macroscopically, the lesions are spongelike, comprising multiple small cysts.
Microscopically, the cystic airspaces relate to a relative overgrowth of dilated bronchiolar structures that are separated by alveolar tissue

Congenital Cystic Adenomatoid
Malformation (CCAM)
Type 3 CCAM
Uncommon and occur almost exclusively in male.
They typically involve and expand a whole lobe, and the others are compressed.
Macroscopically, lesions appear solid and not cystic.
Microscopically, there is an excess of bronchiolar structures separated by airspaces that resemble late fetal lung.
Absence of small, medium, and large pulmonary arteries within the lesion.
Some regard this lesion as identical to pulmonary hyperplasia.

Congenital Cystic Adenomatoid
Malformation (CCAM)
Type 4 CCAM
Very rare and comprise peripheral thin-walled cysts that are often multiloculated.
Lined by alveolar type I or type II cells, and the intervening stroma are thin and comprise loose mesenchymal tissue.
If the stroma of a suspected type 4 CCAM is even focally hypercellular, classification and management as type 1 pleuropulmonary blastoma is recommended.

Postnatal Treatment Decisions in
Congenital Cystic Lung Disease
Once a previously asymptomatic cystic lesion has become infected, it is probably safe to assume that recurrent infections are inevitable, and the lesion should be excised.
If medical management has failed, then surgical removal is indicated, conserving as much normal lung as possible.

Postnatal Treatment Decisions in
Congenital Cystic Lung Disease
Congenital cystic lung lesion discovered on antenatal ultrasound.
A CXR should be done postnatally in the asymptomatic child.
However, this is only around 60% sensitive, so further imaging, usually HRCT, is advised to delineate the abnormality.

Postnatal Treatment Decisions in
Congenital Cystic Lung Disease
Trivial lesions are usually left alone, but some resect even tiny malformations to try to reduce the risk of malignancy.
Aim of surgery is prevention of nonmalignant complications, allowing optimal lung growth, and prevention of malignant transformation.

Postnatal Treatment Decisions in
Congenital Cystic Lung Disease
Prevention of (Nonmalignant) Complications
The main risk is probably infection.
The authors recommended surgery before 10 months of age.

Postnatal Treatment Decisions in
Congenital Cystic Lung Disease
Optimizing Lung Growth
Operative removal of a large mass would allow the residual lung to expand.
CLE may cause considerable mediastinal shift in asymptomatic infants, but as the child gets older the shift regresses, and there is no evidence of interference with lung growth or function.

Postnatal Treatment Decisions in
Congenital Cystic Lung Disease
Preventing Malignant Transformation
Primary intrathoracic malignancy in childhood is very rare.
For most but not all types of CTM, there is no evidence of an increased risk.
Even complete removal of a CTM does not prevent development of a malignancy.

Postnatal Treatment Decisions in
Congenital Cystic Lung Disease
Conclusion
The uncertainties as to what is best to do must be shared honestly with the family. There is no right answer in the asymptomatic child, and this needs to be acknowledged.

Pulmonary Sequestration
Etiology of these lesions is not clear.
Pulmonary tissue that is isolated from normal functioning lung and is fed by systemic arteries.
The less common extralobar sequestration is divorced from and accessory to the lung. Sequestrations may also connect to the esophagus or stomach, as well as contain pancreatic tissue; they also may show histologic features of adenomatoid malformation.

Pulmonary Sequestration
Intralobar sequestration is acquired when a focus of infection or scarring acquires its blood supply from a systemic collateral.
Intralobar sequestrations are usually found in the posterior basal segment of the left lower lobe and extralobar sequestrations beneath the left lower lobe.

Pulmonary Sequestration
15% of extralobar sequestrations are abdominal.
More than half the cases of intralobar sequestration are diagnosed after adolescence.
Extralobar sequestration is generally detected in infancy because of associated malformations , and it affects males four times more frequently than females.

Pulmonary Sequestration
Pulmonary tissue is largely cystic and contains disorganized, airless alveoli, bronchi, cartilage, respiratory epithelium, and a systemic artery.
It is often secondarily infected, bronchiectatic, or atelectatic, and may show histology of a CCAM, particularly type 2 CCAM in extralobar variants.
The aberrant arteries may arise from the thoracic or abdominal aorta.

Pulmonary Sequestration
In intralobar sequestrations, the systemic arteries are likely to be large, and the veins drain into the pulmonary system; in extralobar variants, the systemic arteries are small and the venous drainage is likewise systemic through the azygos system.

Pulmonary Sequestration
Treatment of sequestration is conventionally by surgical excision.
Embolization of aortopulmonary collaterals should be considered.
There is a small series of definitive treatment by embolization, in some cases very early in life.
The results are better for solid lesions; cystic components do not respond so well.

Congenital Lobar Emphysema
A rare condition, CLE presents in 50% of cases in the neonatal period.
Caused by easily identifiable partial obstruction, such as mucosal flaps or twisting of the lobe on its pedicle.
In many cases, a deficiency of bronchial cartilage is thought to be the cause, leading to inappropriate collapse of the airway and the trapping of air.

Congenital Lobar Emphysema
Histologically, the majority of cases show normal radial alveolar counts but with no apparent maturation with age, suggesting a postpartum arrest of acinar development within affected lung tissue.
A minority of cases, however, show true alveolar hyperplasia with increased radial alveolar counts; this sometimes is referred to as a polyalveolar lobe.

Congenital Lobar Emphysema
The condition affects:
Left upper (42%).
Right middle (35%).
Right upper (21%).
Lower lobes(2%).
The affected lobe cannot deflate, but overdistends and displaces adjacent lobes, and subsequently the mediastinal structures.

Congenital Lobar Emphysema
The emphysematous lobe may herniate into the contralateral hemithorax, usually through the anterior mediastinum.
The condition may be diagnosed antenatally.

Congenital Lobar Emphysema
Presentation in Infancy
Clinical features of infantile lobar emphysema are those suggestive of a tension pneumothorax:
1-Hyperresonance of the affected hemithorax.
2-Diminished breath sounds.
3-Deviation of mediastinal structuresto the contralateral side.

Congenital Lobar Emphysema

Congenital Lobar Emphysema
(V/Q) scanning may demonstrate delayed uptake and clearance of isotope and reduced blood flow in the affected lobe.
Bronchoscopy may reveal causes of intrinsic obstruction and permit the removal of a foreign body or inspissated secretions.

Congenital Lobar Emphysema
Echocardiogram :
Evaluating the heart and great vessels.
Contrast CT scan :
Evaluating the anatomy of the emphysematous lobe its size and relations, and whether it has herniated into the contralateral hemithorax.
Excluding contralateral pulmonary hypoplasia.

Congenital Lobar Emphysema
Differential Diagnosis
Intrinsic or extrinsic cause of failure of airspace emptying.
Intrinsic partial obstruction may result from inspissated mucus or aspirated material.
Endobronchial granulomas due to endotracheal suction.
Bronchial atresia of the affected lobe is well recognized.

Congenital Lobar Emphysema
Extrinsic compression of bronchi due to congenital heart disease or anomalies of the great vessels usually presents as emphysematous changes of more gradual onset, often after the neonatal period.
Less common causes of extrinsic compression include bronchogenic cysts.
The second big group is any cause of loss of lung volume on the contralateral side.
Other causes include absent lung, and lobar or lung collapse due to bronchial obstruction.

Congenital Lobar Emphysema
Treatment
Children who do not suffer respiratory compromise can be managed conservatively.
Lobectomy is indicated in the event of respiratory distress.
Low-pressure highfrequency oscillation has been advocated to prevent barotrauma to the affected lobe and further respiratory compromise to the adjacent lung.

Congenital Lobar Emphysema

Tracheoesophageal Fistula and
Esophageal Atresia
Etiology
Recently deletions in the glutathione S-transferase gene have been implicated in isolated esophageal atresia.
Genetic factors implicated in esophageal atresia as part of a syndrome include CHD7 in familial CHARGE syndrome.
FOXF1 and the 16q24.1 FOX transcription factor gene
cluster,126 polyalanine expansion in the ZIC3 gene127 (both
VACTERL and a 5.9 Mb microdeletion in chromosome band
17q22-q23.2 associated with TEF and conductive hearing loss.

Tracheoesophageal Fistula and
Esophageal Atresia
Pathology
If there is incomplete mesodermal separation of the primitive foregut, then a fistula may develop between the esophagus and the trachea.
Most commonly, they are associated with esophageal atresia, with about 85% of such cases being associated with a fistula.

Tracheoesophageal Fistula and
Esophageal Atresia
The upper blind pouch is large and it usually ends about 8 cm from the superior alveolar ridge in the region of the azygos vein.
The lower esophageal segment is small and originates from the region of the distal posterior membranous trachea, carina, or right main-stem bronchus.

Tracheoesophageal Fistula and
Esophageal Atresia
The diagnosis is often delayed, with considerable respiratory morbidity due to aspiration and infection.
Occasionally, a bronchus may communicate with the esophagus.

Tracheoesophageal Fistula and
Esophageal Atresia
Associations
Tracheoesophageal fistula is more common in first and twin pregnancies of mothers of increasing age.
About two thirds have an associated abnormality.
20% have birth weight below the 5th percentile.
Anomalies are most common in pure esophageal atresia without fistula and least common in H-type fistulas.

Tracheoesophageal Fistula and
Esophageal Atresia
Almost 80% have cardiac anomalies,these being the principal cause of death.
Chromosomal abnormalities are reported in 6% of cases, in trisomy 13, 18, and 21 in particular.
Other associations include Potter's syndrome (bilateral renal agenesis), Pierre Robin, polysplenia, and
DiGeorge sequences.

Tracheoesophageal Fistula and
Esophageal Atresia
There is also a significant incidence (47%) of tracheobronchial anomalies, ranging from tracheomalacia, abnormal nonciliated epithelium, lung agenesis, and hypoplasia or ectopic bronchi, to glossoptosis and airway obstruction.
The incidence of vertebral and skeletal anomalies, including sacral agenesis, hemivertebrae, and rib and radial anomalies is 20% to 50% overall.
Cases with associated cleft lip132 and duodenal atresia are higher risk.

Tracheoesophageal Fistula and
Esophageal Atresia
Presentation
The incidence of esophageal atresia is 1 in 2500.
Polyhydramnios has been reported in 85% of cases with pure esophageal atresia and 32% of those associated with TEF.
Diagnosis by antenatal ultrasound is unreliable, with up to 50% false-positives.
At birth, the baby is commonly frothing, choking, and suffering cyanotic episodes despite oral suction.

Tracheoesophageal Fistula and
Esophageal Atresia
An attempt should be made to pass an orogastric tube.
A plain radiograph will demonstrate :
The tube coiled in the upper pouch.
The right upper lobe consolidation due to aspiration.
Plethoric lung fields due to cardiac anomalies.
Vertebral and rib anomalies.
Presence or absence of gasin the stomach, indicating the presence or absence of a TEF.

Tracheoesophageal Fistula and
Esophageal Atresia
Abdominal radiograph to try to exclude distal intestinal atresia.
An echocardiogram is useful to identify intracardiac structural anomalies and the possibility of a rightsided aortic arch.

Tracheoesophageal Fistula and
Esophageal Atresia
Preoperative Care
The preoperative care for this condition should start from the moment it is suspected.
Continuous suction of the oropharynx is important to reduce the risk of aspiration.
A sump sucker such as a replogle tube is useful because it permits continuous suction and protects the esophageal mucosa from direct suction related trauma.

Tracheoesophageal Fistula and
Esophageal Atresia
The infant should be nursed prone.
If pulmonary consolidation is identified, then physiotherapy and postural drainage should be employed.

Tracheoesophageal Fistula and
Esophageal Atresia
Surgery
A right thoractomy by extrapleural approach with end-to-end single-layer anastomosis and division of fistula remains the most common technique.

Tracheoesophageal Fistula and
Esophageal Atresia
Postoperative Course
Tracheomalacia is common, and the well-known brassy
“tracheoesophageal fistula cough” (TOF cough, as it is known in Europe) is a feature.
Recurrent aspiration leading to bronchitis and bronchopneumonia is frequent.
17% of patients may require fundoplication for postoperative gastroesophageal reflux,and 25% have dysphagia at 2 years.

Tracheoesophageal Fistula and
Esophageal Atresia

Absent or Small Pulmonary Artery
Unilateral absence of a pulmonary artery, and the defect may be isolated or associated with other cardiovascular anomalies.
TOF with an absent left pulmonary artery.
PDA with an absent right pulmonary artery.

Absent or Small Pulmonary Artery
Symptoms may not arise until adult life, when they are generally due to pulmonary infection or hemorrhage.
Congenitally small unilateral pulmonary artery usually is seen in association with an ipsilateral small lung.
However, it is unclear whether the primary abnormality is related to blood flow or if both the small lung and the abnormal blood supply are due to an unknown primary event.

Absent or Small Pulmonary Artery
Pulmonary stenosis may affect lobar and segmental vessels as well as the main pulmonary arteries, and the narrowings may be multiple.
Symptoms include Pulmonary infection or bleeding from bronchopulmonary anastomoses.
In the surgical procedure of unifocalization, the collateral circulation is used to create an artificial trunk supplying the whole of the lung, which can then be anastomosed to the right ventricle via a conduit.

Abnormal Pulmonary Venous
Drainage
Anomalous pulmonary veins result in blood from the lungs returning to the right side of the heart rather than entering the left atrium.
The anomalous veins may join the inferior vena cava vein or hepatic, portal, or splenic veins below the diaphragm, or above the diaphragm they may drain into the superior vena cava vein or its tributaries, the coronary sinus, or the right atrium.

Abnormal Pulmonary Venous
Drainage
Total or partial, unilateral or bilateral, and isolated or associated with other cardiopulmonary developmental defects.
Anomalous pulmonary venous connections are often narrow, and this may cause relatively mild pulmonary hypertension.

Abnormal Pulmonary Venous
Drainage
Scimitar syndrome is a particular clinical problem characterized by a small right lung, resulting in the heart moving to the right (cardiac dextroposition) and an abnormal band shadow representing the abnormal venous drainage to the systemic veins.
Infants with this condition presenting in heart failure have a worse prognosis.

Abnormal Pulmonary Venous
Drainage
Aortopulmonary collaterals should be sought and occluded.
More invasive treatment options include reimplantation of the vein or pneumonectomy.
Severe pulmonary hypertension is an adverse prognostic feature.
An association with horseshoe lung has been described; this usually causes early death, but occasional long-term survival has been reported.

Abnormal Pulmonary Venous
Drainage