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History case

A boy of 7 years the last 2 years was repeatedly treated for right inferior lobe bronchopneumonia. On the plain chest X-ray, there is a well defined opacity at the level of the inferior lobe of the right lung. The shadow adjoins to the mediastinum.

Suspected diagnosis???

Pulmonary hypoplasia, Congenital lobar emphysema, Pulmonary sequestration, Congenital pulmonary airway malformation, Bronchogenic cyst.

N. Testemitanu State University of Medicine and Pharmacy Department of Pediatric Surgery, Orthopedics and Anesthesiology

Congenital lung malformations

Jalba Alexandru, MD, PhD, associate professor


Chisinau 2013

Background
o The aim of this lecture is to provide a concise approach to congenital lung malformations.

o Discussed issues:
o bronchogenic cyst, o pulmonary agenesis and hypoplasia, o polyalveolar lobe, o alveolocapillary dysplasia, o sequestration including arteriovenous malformation (AVM) and o scimitar syndrome, o pulmonary lymphangiectasis, o congenital lobar emphysema (CLE), and o congenital cystic adenomatoid malformation (CCAM) (sin. congenital pulmonary airway malformation (CPAM)) and other lung cysts.

Background
o Although they secrete the amniotic fluid, the lungs are unnecessary as organs of respiration in fetal life.

o However, their development must occur so that air exchange may take place at birth.
o The lungs go through o embryonic, o pseudoglandular, o canalicular, o saccular, and

o alveolar phases (Fig. 1).

Background

Fig. 1. Lungs development.

History of the procedure


o Surgery for congenital lung malformation was made possible relatively recently.

o Early 20th century thoracic surgery consisted of mainly thoracoplasty to collapse a tuberculoid lung or to drain an empyema.
o Only with the regular use of endotracheal intubation and mechanical ventilation in the 1950s did intrathoracic procedures become routine. o These techniques were not widely applied to newborns until the 1950s. o Although Evarts Graham performed pneumonectomy with mass ligature of the hilum, Churchill was the first to regularly perform lobectomy with hilar dissection. o Gross and Lewis successfully treated a patient with congenital lobar emphysema with lobectomy in 1943.

History of the procedure


o Bronchogenic cysts are increasingly excised thoracoscopically. o Rodgers vigorously promoted endoscopic surgery, which has become prevalent with the plethora of new instrumentation available and with the expansion of minimally invasive laparoscopy and thoracoscopy. o Most thoracic surgical procedures, such as resection of masses (neurogenic tumors, bronchogenic cysts) and pulmonary lobectomy, are now accomplished with minimally invasive surgery, although the benefits of this approach for cystic adenomatoid malformations are unclear.

History of the procedure


o Fetal surgery has been advocated for cystic adenomatoid malformation with hydrops, although it has been abandoned for congenital diaphragmatic hernia (CDH). o The extrauterine intrapartum (EXIT) procedure involves delivery of the baby in which the umbilical circulation is left intact if the baby has a congenital high airway obstruction. This procedure allows relief of the obstruction while providing gas exchange across the placenta (Fig. 2).

Fig. 2. EXIT procedure.

Classification by site of origin


Trachea and Bronchi Pulmonary parenchyma Congenital pulmonary airway malformations (preciously congenital cystic adenomatoid malformation) Bronchopulmonary sequestration Congenital lobar emphysema Vascular

Agenesis

Hemangioma

Atresia, stenosis Tracheal bronchus Esophageal bronchus/lung (communicating bronchopulmonary malformation) Bronchogenic cyst Enteric duplication cyst Neuroenteric cyst Bronchial cysts (peripheral)

Arteriovenosus malformation Scimitar syndrome

Agenesis

Congenital pulmonary lymphangiectasia


Lymphangioma Congenital chylotorax

Aplasia Hypoplasia

Bronchiolar cysts (cystic bronchiectasis multiple)


Lobulation abnormalities

Epidemiology
o Frequency: Congenital lung malformations represent 5-18.7% of all congenital anomalies. This range may be an underestimate because of the high frequency of undetected or asymptomatic lesions.

Generalities
o Although congenital lung malformations are rare, they are important disorders because they may lead to considerable morbidity and mortality (eg, infection, hemorrhage, respiratory failure). o Prognosis depends on the size of the lesion, and the degree of functional impairment. o Small lesions may remain asymptomatic. o Failure to recognize a malformation may lead to inappropriate intervention. o For example, placement of a chest tube to manage suspected tension pneumothorax in a patient with congenital lobar emphysema may lead to lung contusion and ventilation through the chest tube instead of into the remaining healthy lung.

Generalities
o Healthy lung is composed of an orderly system of tubes (airways) and sacs (airspaces or alveoli) in a strict relationship to pulmonary blood vessels (arterial from the right ventricle and venous return to the left atrium) (Fig.3).

Fig. 3. Lung vasculature

Generalities
o Also present is a systemic blood supply (aorta to superior vena cava) and lymphatic drainage (Fig. 5).

o Congenital lung malformations arise whenever one or more of these structures are abnormal or when their relationships are altered.

Fig. 5. Pulmonary and systemic blood supply of the lungs

CERTAIN LUNG MALFORMATIONS

Bronchogenic cysts
o Bronchogenic cysts are also known as foregut duplication. o They arise from an abnormal budding of the ventral foregut. o Approximately 85% are mediastinal, and 15% are intrapulmonary (Fig. 6).

Fig. 6. Bronchogenic cysts.

Bronchogenic cysts
o The peripheral cysts are multiple and appear late in gestation. o They may be filled with air or fluid, or they may have air-fluid levels.

o The cysts can be central or peripheral.

Fig. 6. Bronchogenic cysts.

Bronchogenic cysts
o Many are asymptomatic, but incidental findings may be observed on chest radiography (Fig. 7, 8).

Fig. 7. Bronchogenic cyst of the mediastinum

Bronchogenic cysts
o Many are asymptomatic, but incidental findings may be observed on chest radiography and (Fig. 7, 8).

Fig. 8. Bronchogenic cyst. CT scan demonstrates a thin-walled cyst in the right upper lobe.

Bronchogenic cysts
o Infection, hemorrhage, and, in rare cases, malignancy can occur. o Respiratory distress may result in a stridor or wheeze. o Airtrapping may lead to emphysema, atelectasis, or both. o Dysphagia, chest pain, and epigastric discomfort can occur.

Pulmonary agenesis and hypoplasia


o In lung agenesis, the entire lung and bronchial tree may be absent on one side. o The bronchial tree may form without development of the alveoli. o Pulmonary hypertension complicates lung agenesis because of a combination of factors: normal blood volume passing through reduced lung tissue, hypoxemia leading to pulmonary vasoconstriction, and any associated left-to-right shunting cardiac lesion.

Pulmonary agenesis and hypoplasia


o Intrathoracic or extrathoracic lesions can cause pulmonary hypoplasia. o Therefore, prolonged rupture of membranes, renal dysplasia, neuromuscular diseases, and congenital diaphragmatic hernia can lead to lung hypoplasia. o Reduced urine volume during fetal life may retard lung growth.

o Secondary pulmonary causes include cystic adenomatoid malformation


and sequestrations. o Secondary extrapulmonary, intrathoracic causes include congenital

diaphragmatic hernia, hydrothorax, pleural effusions, and tetralogy of


Fallot (due to poor lung blood flow).

Pulmonary agenesis and hypoplasia


o Extrathoracic causes include renal dysplasia and neuromuscular disorders (ie, poor breathing). o Bilateral renal agenesis leads to oligohydramnios and poor development of the terminal airways secondary to decreased swallowing of the amniotic fluid.

o The urinary proline aids in the formation of collagen by the fetal lung.
o Thyroid transcription factors also regulate lung development. o The lung hypoplasia in congenital diaphragmatic hernia is complicated by

pulmonary hypertension.
o Pulmonary aplasia leads to respiratory distress, which may vary according to the degree of alveolar involvement. Pulmonary hypoplasia may be primary when the entire lung or when one lobe is reduced in size.

Pulmonary agenesis and hypoplasia


o Both pulmonary agenesis and hypoplasia may be accompanied by renal anomalies, which are usually apparent soon after birth and associated with respiratory distress. Cardiac defects occur in 50% of patients. o Pulmonary agenesis is differentiated from lung aplasia by the absence of the carina in Fig. 9. A. Normal lungs. B. Pulmonary aplasia, with complete absence of both bronchial and the latter (Fig. 9).
alveolar tissue. C. Pulmonary agenesis with a bronchus reminiscence and D, Pulmonary dysplasia. Some bronchial elements are present, but there are no alveoli.

Pulmonary agenesis and hypoplasia


o Lung agenesis is less common than aplasia, about 75% of cases affect the left side, and it is lethal in half of all patients. o It may be associated with other manifestations of the syndrome of abnormalities of the Vertebrae, Anus, Cardiovascular tree, Trachea, Esophagus, Renal system, and Limb buds (VACTERL syndrome). o The survival rate is better with left-sided lung agenesis than with rightsided agenesis because the right lung is the larger of the two.

Pulmonary agenesis and hypoplasia


o In pulmonary hypoplasia,

development of the distal lung tissue is incomplete (Fig. 10). o The earlier the delivery of a child, the higher the incidence of lung hypoplasia. o In babies delivered before 28

weeks' gestation, the incidence


Fig. 10. A to C. Pulmonary hypoplasia. Three conditions of different embryogenesis that all result in a smaller than normal lung. A, Alveolar tissue not functional. B, Reduced size of one lung. C, Hypoplasia resulting from lobar dysplasia. D to F. Pulmonary ectoplasia. Part or all of one lung is attached to the esophagus and usually is supplied by a systemic artery. D, Bronchoesophageal fistula. E, Sequestration of right lower lobe. F, Sequestration of lower lobe and dysplasia of upper lobe.

approaches 20%.

Pulmonary agenesis and hypoplasia


o Pulmonary hypoplasia results from conditions that restrict lung growth, such as oligohydramnios, Potter syndrome (with bilateral renal agenesis or dysplasia), abnormalities of the thoracic cage, Scimitar syndrome (rightsided pulmonary hypoplasia), and diaphragmatic hernia Fig. 10. A to C. Pulmonary hypoplasia. Three conditions of different embryogenesis that all result in a smaller than normal lung. (usually left-sided hypoplasia). A, Alveolar tissue not functional.
B, Reduced size of one lung. C, Hypoplasia resulting from lobar dysplasia. D to F. Pulmonary ectoplasia. Part or all of one lung is attached to the esophagus and usually is supplied by a systemic artery. D, Bronchoesophageal fistula. E, Sequestration of right lower lobe. F, Sequestration of lower lobe and dysplasia of upper lobe.

Pulmonary agenesis and hypoplasia


o More than 50% of patients have associated cardiac, gut, or skeletal malformations. o They may have a small thoracic cage, decreased breath sounds on the

affected side, and a mediastinal shift to the side of the lesion (Fig. 11,
12). o Therefore, aplasia of the right lung can be confused with dextrocardia.

o Patients may present with lung infections, dyspnea upon exertion,


and/or scoliosis.

Pulmonary agenesis and hypoplasia

Fig. 11. Pulmonary hypoplasia. (a) Schematic illustrates pulmonary hypoplasia. (b)Anteroposterior chest radiograph of a 7-month-old infant shows opacity of the left hemithorax and small left lung (arrows) with ipsilateral displacement of the mediastinum, secondary to repaired Bochdaleck hernia.

Pulmonary agenesis and hypoplasia

Fig. 12. Pulmonary hypoplasia. (a)Anteroposterior radiograph shows opacity of the right hemithorax and a shift of the mediastinal structures to the right, due to pulmonary hypoplasia secondary to right diaphragmatic agenesis. (b) Angiographic MR image of a 10-year-old boy shows a hypoplastic right pulmonary artery (arrows).

Pulmonary isomerism
o Pulmonary isomerism is an anomaly of the number of lung lobes. o In the common variety of pulmonary isomerism, the right lung has 2 lobes, whereas the left has 3.

o This anomaly may be associated with situs inversus, asplenia,


polysplenia, and/or anomalous pulmonary drainage.

Azygous lobe
o An azygous lobe is a malformation of the right upper lobe caused by an aberrant azygous vein suspended by a pleural mesentery. o An azygous lobe is a

radiographic
Fig. 13. A. A 15-year-old boy receiving chemotherapy for osteogenic sarcoma of the left femur. The chest radiograph showed an azygous lobe of the lung with a thin fissure (arrows) separating it from the rest of the right upper lobe. Computed tomography (Panels B and C) revealed the fissure (Panel B, white arrows and Panel C, asterisk) and a small nodule in the posterior right upper lobe, 1 cm in diameter (Panel B, black arrow). Evaluation of a specimen from a thoracoscopic lung biopsy (Panel D) showed that the membranous fissure (asterisk) contained the azygos vein (arrowheads) and divided the apex of the right hemithorax. The lung nodule was found to contain metastatic osteosarcoma.

curiosity
clinical

without

significance that occurs in 0.5% of the general population.

Pulmonary sequestration
o If an accessory lung bud forms early enough, it leads to the formation of sequestration in the normal lung tissue. o Development late in gestation leads to extrapulmonic sequestration.

o Both types obtain their blood supply from the aorta or its branches.
o Patients may present with exercise intolerance due to these vascular shunts. o Sequestrations may also be connected to the GI tract.

Pulmonary sequestration
o Pulmonary INTRALOBAR EXTRALOBAR accounts for sequestration 6% of all

congenital lung malformations and mostly occurs in the lower lobes. o A sequestration is a bronchopulmonary mass without

normal

bronchial

communication and with normal AORTA


Fig. 14. Pulmonary sequestration

or anomalous vascular supply from the systemic circulation. o Sequestered lung may be intralobar or extralobar.

Pulmonary sequestration
o Children present with recurrent respiratory problems in the same anatomic location. o Associated anomalies include diaphragmatic hernia and eventration.

o Patients may have exercise intolerance if they have large systemic


arterial venous shunts. o The extrathoracic variety can be associated with hydrops fetalis or

increased lymphatic transudate in the thorax.

Pulmonary sequestration
o About 50% of pulmonary sequestration cases are intralobar, and 60% of intralobar cases occur in the left lower lobe with equal sex distributions. o Patients with intralobar sequestration usually present late.

o They may have a chronic cough, recurrent pneumonias, or poor exercise


performance. o Systemic arterial flow may produce a murmur, and shunts may lead to

congestive cardiac failure.


o Squamous cell carcinoma, adenocarcinoma, and rhabdomyosarcoma may arise in the sequestration.

Pulmonary sequestration
o Approximately 95% of extrapulmonary cases are left sided. o Most extrapulmonary cases are detected in infancy, with boys affected 4 times more than girls.

o Infants usually present with a chronic cough and recurrent chest


infections. o Radiographs may reveal signs of consolidation.

o If communication with the gut is present, children may present with


vomiting, failure to thrive due to poor oral intake, and abdominal pain.

Scimitar syndrome
o The constant feature of this syndrome is partial or total anomalous pulmonary venous return to the inferior vena cava. o This abnormal vein on the chest

radiography creates a gentle


curve bulging into the right chest from the mediastinum that some believe resembles the
Fig. 15. Scimitar syndrome.

Turkish sword called a scimitar.

Scimitar syndrome
o Other features of the syndrome are variable and may include dextrocardia, hypoplasia of the right lung and/or pulmonary artery, malformation of the bronchi, and systemic arterial supply to the right lung. o The clinical features vary according to age. Infants almost always present with congestive heart failure and severe pulmonary hypertension. Adults are generally asymptomatic.

Fig. 16. Chest x-ray of a five-year-old girl with Scimitar syndrome. The heart (blue outline) is shifted into the right half of the chest, and the anomalous pulmonary venous return (red) has a shape reminiscent of a Scimitar.

Scimitar syndrome

Fig. 17. Scimitar syndrome (MRI).

Lung hamartoma
o Hamartomas are lung nodules contain cartilage, respiratory epithelium, and collagen. o They may be in the lung tissue or the bronchial lumen.

A A

Fig. 18. Pulmonary hamartoma. (A) Chest CT scan shows a heterogeneous, sharply marginated lesion with small focal areas of calcification and fat. These findings are typical features of hamartoma. (B) The chest radiograph shows a solitary pulmonary nodule in the left lung apex. Close inspection of this nodule shows small foci of increased attenuation within the nodule, consistent with calcium. These findings are typical features of hamartoma.

Lung hamartoma
o They are presumed to be congenital because they are usually found on chest radiographs in asymptomatic adults. o They can cause airway obstruction and are usually excised for

diagnosis.

A A

Fig. 18. Pulmonary hamartoma. (A) Chest CT scan shows a heterogeneous, sharply marginated lesion with small focal areas of calcification and fat. These findings are typical features of hamartoma. (B) The chest radiograph shows a solitary pulmonary nodule in the left lung apex. Close inspection of this nodule shows small foci of increased attenuation within the nodule, consistent with calcium. These findings are typical features of hamartoma.

Pulmonary arteriovenous malformation


o Pulmonary arteriovenous

malformations are abnormal communications between the

pulmonary
venous 19).

arterial

and

systems

without

interposed capillaries (Fig.

Fig. 19. MRI angiography using MIP (Maximum Intensity Projection) reconstruction shows the presence of multiple, bilateral arteriovenous malformations of pulmonary vessels. vessels

Pulmonary arteriovenous malformation


o Arteriovenous malformations with a systemic arterial supply are unusual in the lung. o As with arteriovenous malformations elsewhere, they can lead to high-

output cardiac failure.


o Symptoms are unusual in childhood. o However, by adulthood, 50% of patients have at least exertional

dyspnea.
o Hemoptysis is most common in patients who also have cutaneous telangiectasis. o A continuous bruit is often heard over the lesion.

Pulmonary arteriovenous malformation


o The fistulas are usually seen as well-defined opacities on chest radiography, and are multiple in

as many as 50% of patients (Fig.


20) and bilateral in 10%.

Fig. 20. Chest X-ray. Pulmonary arteriovenous malformation.

Pulmonary arteriovenous malformation


o Most of the fistulas are subpleural, and more often occur in the lower lobes. o CT findings are usually diagnostic (Fig. 21).

Fig. 21. Right malformation.

intrahilar

pulmonary

arteriovenous

Pulmonary arteriovenous malformation


o Complications include bleeding, infection, and embolus. o Patients with cutaneous telangiectasis are likely to have Rendu-OslerWeber disease (also known as hereditary hemorrhagic telangiectasia a

genetic disorder that leads to abnormal blood vessel formation in


the skin, mucous membranes, and often in organs such as the lungs, liver, and brain). o They are likely to have multiple pulmonary arteriovenous

malformations and progressive symptoms.

Pulmonary arteriovenous malformation


o Treatment is resection. o If this is not possible, the lesions can be embolized (Movie 1).

Movie 1. Right pulmonary arteriovenous embolization.

Alveolar capillary dysplasia


o In alveolar capillary dysplasia, a fatal condition, the distal arteriolar blood supply is reduced, the pulmonary veins are misaligned, and the connective tissue between the alveolar epithelium and the capillary

endothelium is increased (Fig. 22).

Fig. 22. Alveolar capillary dysplasia: characteristic histologic features of ACD/MPV: thickened alveolar septae with scarce dilated pulmonary capillaries located away from the alveolar epithelium, with absence of the usual alveolar-capillary barrier ( ); medial hypertrophy of small pulmonary arteries and muscularization of distal arterioles (); congested pulmonary veins malpositioned, adjacent to pulmonary arteries in the same adventitial sheath (*); lymphangiectasis not present.

Alveolar capillary dysplasia


o The alveolar circulation is impaired, and the response to nitric oxide is poor. o Affected babies do well with venoarterial extracorporeal membrane

oxygenation (ECMO), but they cannot be weaned from it.


o The clinical presentation of alveolar capillary dysplasia is that of persistent pulmonary hypertension of the newborn.

o Hypoxemia leads to arteriolar muscular hypertrophy.


o Patients may have associated anomalies in the heart or urinary system. o Open lung biopsy and cardiac catheterization are suggested as

diagnostic tools to look for or exclude pulmonary capillary blush.

Pulmonary lymphangiectasis
o Pulmonary lymphangiectasis is a rare disorder in which the normal pulmonary lymphatics are dilated. o It may be associated with congenital heart disease in which the

pulmonary venous pressure is elevated.


o Pulmonary lymphangiectasis can also be observed with

lymphangiomatosis, in which proliferation of the lymphatic tissue and

channels occurs.
o The disease can also be part of a syndrome of lymphangiomas in many organs; it is sometimes associated with vanishing bones (Gorhams disease). o Pulmonary lymphangiectasis is congenital, but symptoms of respiratory insufficiency usually do not appear until adulthood.

Pulmonary lymphangiectasis (History case)


o A female infant was born at 40 weeks and 3 days of gestation, weighing 2970 g. o The Apgar scores were 8, 10, and 10 at 1, 5, and 10 minutes,

respectively.
o Within one hour after birth, severe respiratory distress with profound cyanosis developed while the infant was breathing room air, and

intubation and mechanical ventilation were required.

Pulmonary lymphangiectasis (History case)


o An initial chest radiograph showed normal lung volumes with diffuse, bilateral nodular changes, and a subsequent chest radiograph obtained on the 17th day of life showed that these changes had become more

prominent (Fig. 23).

Fig. 23. Chest X-ray - pulmonary lymphangiectasia

Pulmonary lymphangiectasis (History case)


o Surfactant and antibiotics were administered. o Lung compliance remained poor, and high-frequency oscillatory ventilation was begun.

o Congenital heart disease was ruled out, and cultures of blood and
tracheal aspirates were unrevealing. o After surfactant protein B deficiency was ruled out, an open-lung biopsy

was performed, on the 18th day of life.

Pulmonary lymphangiectasis (History case)


o On gross examination, the lung had an irregular surface with scattered nodular changes (Fig. 24).

Fig. 24. Pulmonary lymphangiectasis. Intraoperative view.

Pulmonary lymphangiectasis (History case)


o On microscopical examination, there was subpleural and septal cystic lymphangiectasia (L, Fig. 25; hematoxylin and eosin, 150). A denotes artery. These findings are consistent with a diagnosis of

congenital pulmonary lymphangiectasia, which is a uniformly fatal


disease when it manifests in the newborn period. The infant died on the 20th day of life.

Fig. 25. Pulmonary lymphangiectasis. Hematoxylin and eosin, 150.

Congenital lobar emphysema


o Massive overinflation of one or more lung lobes occurs postnatally in congenital lobar emphysema (Fig. 26).

Fig. 26. Congenital lobar emphysema

Congenital lobar emphysema


o Causes are obscure in 50%. Other causes include intrinsic absence or abnormality (bronchomalacia) of cartilaginous rings or external compression by a large pulmonary artery. (Compression of the cartilage

usually leads to malacia.)


o Hyperexpansion of a pulmonary lobe is present after birth when, with negative inspiratory pressure, air can enter the lung. o However, the air cannot exit easily because positive pressure causes the softened airway to collapse. o The remaining normal lung is then compressed.

Congenital lobar emphysema


o Congenital lobar emphysema primarily involves the upper lobes. o The left upper lobe is involved in 41% of patients; the right middle lobe, in 34%; and the right upper lobe, in 21%.

o Involvement of the lower lobes is rare, occurring in fewer than 5% of


patients. o Congenital cardiac anomalies may be present in as many as 10% of

patients.
o Lesions most commonly occur in whites, in male individuals (male-tofemale ratio, 3:1), and in young infants.

Congenital lobar emphysema


o Most patients with congenital lobar emphysema present before 6 months of life. o Neonates may present with mild-to-moderate respiratory distress.

o Mediastinal shift may be present, with hyperresonance and decreased


breath sounds on the involved side. o Infants present with cough, wheezing, respiratory distress, and cyanosis.

o Older children may present with recurrent chest infections.


o On images obtained in neonates, the affected lobe may be slightly opacified, rather than lucent, because it is still filled with fluid.

o Associated cardiac anomalies occur in as many as 10% of patients. See


the images below.

Congenital lobar emphysema

Fig. 27. Chest X-ray. (front and lateral views) Congenital lobar emphysema on the right side of the chest in a neonate. Film shows marked lucency and hyperexpansion in the middle lobe of the right lung; this finding is consistent with lobar emphysema. The possibility of tension pneumothorax is unlikely because lung markings are seen in this region, with splaying of the pulmonary vessels. Compressive atelectasis is present in the left upper and right lower areas of the lungs. The mediastinum and heart are shifted to the left. The osseous structures are intact.

Congenital lobar emphysema

Fig. 28. Same patient as in the previous 2 images. After surgery, the left lung is expanded. A thoracotomy tube is on the right, with a small right-sided pneumothorax.

Congenital cystic adenomatoid malformation


o Congenital cystic adenomatoid malformation (CCAM) or congenital pulmonary airway malformation (CPAM) lately is a defect in the development of the terminal bronchioles. o A hamartomatous proliferation of cysts occurs and resembles bronchioles (airways without cartilage).

Fig. 29. CCAM on chest radiograph in a newborn. Large cystic changes in the left lung, leading to a mediastinal shift to the right due to their mass effect.

Fig. 30. Contrast enhanced computerized tomography of the chest of the patient with congenital cystic adenomatoid malformation (CCAM)

Congenital cystic adenomatoid malformation


o Adenomatoid malformation results when the terminal bronchiolar component of the advancing endodermal lung bud proliferates haphazardly because of disruption of humoral factors from the surrounding mesenchyme. o Apoptosis in the advancing lung bud is decreased. o Glial cellderived neurotrophic factor is a growth factor that is abnormally expressed in the epithelial cells of the cystic adenomatoid malformation. o Cystic adenomatoid malformations usually appear before 7 weeks' gestation but can occur in the mid stage of lung development. o The growth is thought to plateau at 28 weeks' gestation.

Congenital cystic adenomatoid malformation


o Communication with the normal airways can lead to overinflation and compression of the surrounding lung tissue. o The larger the sonographic volume of cystic adenomatoid malformation in relation to head circumference, the greater the chance for developing hydrops because of more severe central venous compression.

Congenital cystic adenomatoid malformation


o Congenital cystic adenomatoid malformation accounts for 25% of all congenital lung malformations. o Respiratory distress occurs in the neonatal period, when collateral pores

of Kohn ventilate the alveolar tissue present.


o This process is responsible for the cystic appearance on radiographs. o Patients may have mediastinal shift and a pneumothorax. o The affected area is dull on percussion, and air entry is decreased. o The radiographic depiction of a solid or cystic mass on one side of the thorax suggests the diagnosis.

Congenital cystic adenomatoid malformation


o Three histologic categories of cystic adenomatoid malformation are described: o (1) macrocystic (13%), which has the best prognosis and in which one or more large (>5 mm on prenatal ultrasound) cysts are lined with normal pseudostratified ciliated epithelium; o (2) microcystic (73%), which has small cysts lined with ciliated columnar or cuboidal epithelium; and

o (3) solid cystic adenomatoid malformation (13%), which has the worst prognosis and is an airless tissue mass composed of cuboidal epithelium-lined bronchioles.
o The difference in prognosis may be because the solid and microcystic lesions involve a relatively large amount of lung tissue. Macrocystic lesions are comprised of large, air filled, nonfunctioning spaces involving smaller areas of lungs.

Congenital cystic adenomatoid malformation


o Polyhydramnios may be present if the cystic adenomatoid malformation presses on the esophagus. o Pressure on the heart and large vessels may lead to hydrops fetalis. o In approximately 60% of patients, cystic adenomatoid malformation manifests soon after the neonatal period. o It results in recurrent infections because the mucociliary clearance is poor.

o Malignancy can occur in the cystic adenomatoid malformation (pulmonary blastoma, rhabdomyosarcoma, and bronchoalveolar carcinoma). See the images below.

Congenital cystic adenomatoid malformation

Fig. 31. Cystic adenomatoid malformation.

Congenital cystic adenomatoid malformation

Fig. 32. Initial radiograph in a patient with congenital cystic adenomatoid malformation on the first day of life with opaque lungs and a suggestion that the right lung is slightly more voluminous than the left lung.

Congenital cystic adenomatoid malformation

Fig. 33. Radiograph obtained in the same patient as in the previous image on the second day of life shows that the physiologic fluid is resorbed and replaced with an air-containing cystic area occupying the right upper lung.

Polyalveolar lobe
o In a polyalveolar lobe, the number of alveoli increased to more than 3 times normal. o The alveoli are counted microscopically in random lung sections.

o When extra lung fluid is retained, respiratory distress may occur in the
first days of life. o This generally benign anomaly may be associated with some cases of

congenital lobar emphysema.

INDICATIONS

Bronchogenic cyst
o Resection is recommended because of the potential for infection, hemorrhage, and respiratory compromise. o Resection is especially important in the peripheral lesions, which are

usually multiple.
o These can frequently be excised thoracoscopically because they seldom have a major blood supply.

Pulmonary agenesis and pulmonary hypoplasia


o Patients with pulmonary agenesis and pulmonary hypoplasia seem to have one of 3 presentations. o The first group consists of patients with insufficient lung tissue who

may have received mechanical ventilation for some time.


o However, ventilator-induced lung injury results in slow decompensation and death.

o The second group of patients is identified serendipitously when chest


radiography is obtained to assess a minor complaint. o These patients require no intervention.

Pulmonary agenesis and pulmonary hypoplasia


o The third group does not have respiratory distress requiring mechanical ventilation, but they have respiratory limitations to activity or kinking of the airway with shift of the lung to the contralateral side of the chest.

o In addition to the aplasia or hypoplasia, congenital narrowing of the


upper airway also affects many patients.

Pulmonary sequestration
o Resection is recommended, even in asymptomatic patients, to prevent infection, hemorrhage, shunting from arteriovenous anastomoses, or compression of normal lung mass leading to respiratory distress.

o Lobectomy can usually be performed.


o For patients with intralobar sequestration, segmentectomy may suffice. o Segmentectomy is relatively difficult, but preserves additional

functioning lung tissue.

Pulmonary sequestration
o Resection is recommended, even in asymptomatic patients, to prevent infection, hemorrhage, shunting from arteriovenous anastomoses, or compression of normal lung mass leading to respiratory distress.

o Lobectomy can usually be performed.


o For patients with intralobar sequestration, segmentectomy may suffice. o Segmentectomy is relatively difficult, but preserves additional

functioning lung tissue.

Scimitar syndrome
o When symptoms of scimitar syndrome are related to anomalous pulmonary venous return, this return can be redirected surgically. o Symptoms are often related to the bronchial abnormalities and chronic

infection.
o In these cases, pneumonectomy is indicated.

Hamartoma and pulmonary arteriovenous malformation


o Resection is usually performed for diagnosis when a lesion is noted on chest radiography. o Symptoms of airway obstruction or high cardiac output are occasionally

indications for surgery as well.

Congenital lobar emphysema


o Progressive airtrapping leads to respiratory and circulatory compromise in infancy. o Emergency lobectomy may be required.

Congenital lobar emphysema


o A patient with respiratory distress whose chest radiograph reveals a hyperlucency on one side and mediastinal shift usually has a tension pneumothorax. However, one must consider congenital lobar

emphysema (CLE), especially in the newborn.

Fig. 34. Bilateral pneumotorax in a newborn.

Fig. 35. Congenital lobar emphysema in a newborn.

Congenital lobar emphysema


o The diagnosis can usually be determined by looking at the edges of the hyperlucent area. In pneumothorax, the edges are convex and outline the chest wall, whereas in congenital lobar emphysema, they are concave

and outline the cystic structure of an overexpanded lobe.

Fig. 34. Bilateral pneumotorax in a newborn.

Fig. 35. Congenital lobar emphysema in a newborn.

Congenital lobar emphysema

Fig. 36. Bilateral pneumotorax.

Fig. 37. Congenital lobar emphysema of the upper lobe of the left lung.

Congenital lobar emphysema

Fig. 38. Congenital lobar emphysema of the upper lobe of the left lung.

Fig. 39. Right sided pneumotorax.

Cystic adenomatoid malformation


o In congenital cystic adenomatoid malformation (CAM), resection of even asymptomatic masses is recommended because of the risk for infection, hemorrhage, acute respiratory compromise (which may occur

anytime), and neoplastic transformation.


o This disease is usually segmental; however, as noted for sequestration, lobectomy may reduce morbidity.

WORKUP

Laboratory Studies
o Hemoglobin testing is always valuable in respiratory illness because the result is an important factor in oxygen delivery and in planning surgery, which often involves major vessels.

Renal function tests to measure BUN (Blood Urea Nitrogen), serum


creatinine, and electrolyte levels are important because of the frequent association of renal anomalies with pulmonary anomalies (usually pulmonary hypoplasia).

Imaging Studies

(Chest radiography)
Bronchogenic cysts: Bronchogenic cysts are usually fluid-filled lesions and are well circumscribed in the mediastinum.
Fig. 40. Mediastinal bronchogenic cyst.

Solid masses may be difficult to differentiate from fluid. Intrapulmonic cysts appear as solitary nodules unless they contain air.

Large cysts may be difficult to


differentiate from macrocystic cystic adenomatoid malformation (CAM).

Imaging Studies

(Chest radiography)
Pulmonary hypoplasia: In pulmonary hypoplasia, a mediastinal shift to the side of a homogenous density may be depicted, with compensatory herniation of the uninvolved lung.

The associated anomalies (cardiac,


skeletal, gut) may be seen.

Fig. 41. Chest radiograph shows diffuse haziness of the right hemithorax (arrow), slight deviation of the trachea and heart to the right, and poor differentiation of the right heart border.

Imaging Studies

(Chest radiography)
o Pulmonary sequestration: In pulmonary sequestration, an opaque or cystic lesion is seen, depending on the presence of infection.

Fig. 42. Chest radiograph. The PA view demonstrates a left sided triangular density of the medial left lung base. On the lateral view, the triangular density is seen posteriorly over the left lung base.

Imaging Studies

(Chest radiography)
o Congenital lobar emphysema (CLE): In congenital lobar emphysema, the involved lobe crossing the midline and the compressed normal lung can be seen.

Fig. 43. Congenital lobar emphysema.

Imaging Studies

(Chest radiography)
o This appearance does not change during expiration or in the decubitus position. o Vascularity of the involved site is attenuated.

Fig. 43. Congenital lobar emphysema.

Imaging Studies

(Chest radiography)
o The intercostal spaces in the involved site appear widened, and the hemidiaphragm is flattened. Lucent, anteriorly herniated lung pushes the lung posteriorly, as seen on the lateral view.

Fig. 43. Congenital lobar emphysema.

Imaging Studies

(Chest radiography)
o The lesion must be differentiated from contralateral lung hypoplasia and ipsilateral pneumothorax.

Fig. 43. Congenital lobar emphysema.

Imaging Studies

(Chest radiography)
o The lesion must be differentiated from contralateral lung hypoplasia and ipsilateral pneumothorax.

Fig. 44. Left lung hypoplasia.

Fig. 45. Left sided pneumothorax.

Imaging Studies

(Chest radiography)
o Cystic adenomatoid malformation (CAM) or congenital pulmonary airway malformation (CCAM): Cystic adenomatoid malformation is seen as a mass of air-filled cystic spaces with mediastinal shift.

Fig. 46. Congenital pulmonary airway malformation.

Imaging Studies

(Chest radiography)
o In a newborn, the lung fluid may not have been absorbed, and the mass may appear fluid filled and homogenous.

Fig. 46. Congenital pulmonary airway malformation.

Imaging Studies

(Chest radiography)
o In an older child, pneumatoceles may be confused with cystic adenomatoid malformation. o Pneumatoceles are postinfectious pulmonary cysts.

Fig. 46. Congenital pulmonary airway malformation.

Fig. 47. Chest X-ray with large, expanding, multicystic pneumatocele associated with Respiratory Syncytial Virus infection.

Imaging Studies

(Chest radiography)
o They occur after Staphylococcus aureus infection. o However, they are unlikely to recur in the same area of the lung as where cystic adenomatoid malformation occurs.

Fig. 46. Congenital pulmonary airway malformation.

Fig. 47. Chest X-ray with large, expanding, multicystic pneumatocele associated with Respiratory Syncytial Virus infection.

Imaging Studies

(Chest radiography)
o Bronchogenic cysts are central or mediastinal (relatively early embryologic origin) and peripheral or intrapulmonary (late origin). o The latter are rare (15%) and tend to be multiple.

Fig. 46. Congenital pulmonary airway malformation.

Fig. 48. Chest X-ray revealing bronchogenic cyst in the posterior right middle lobe.

Imaging Studies

(Chest radiography)
o Congenital lobar emphysema is exceedingly rare in the lower lobes (< 5% of patients). o It is associated with respiratory distress and mediastinal shift.

Fig. 46. Congenital pulmonary airway malformation.

Fig. 49. Congenital lobar emphysema o the left upper lobe.

Imaging Studies

(Chest CT scanning)
o Bronchogenic cysts: In patients with bronchogenic cysts, CT findings are characteristic. o The lesions are sharply marginated and nonenhancing. If the lesions are seen as soft-tissue attenuation instead of water attenuation, differentiating from lymph nodes may be difficult.

Fig. 50. Chest CT scan. Bronchogenic cyst.

Imaging Studies

(Chest CT scanning)
o Pulmonary hypoplasia: In lung hypoplasia, loss of lung volume and associated anomalies can be seen.

Fig. 51. Right lung hypoplasia. Chest CT scan shows herniation of left lung to right side with narrow right main bronchus and shift of heart to right side.

Imaging Studies

(Chest CT scanning)
Pulmonary sequestration: In pulmonary sequestration, the findings may be only an unusual solid attenuation. Therefore, CT may have little to add to

sonographic

and

plain

radiographic results unless the anomalous vascular supply can

be
Fig. 52. CT with IV contrast of the thorax showing an Intralobar Bronchopulmonary Sequestration. The yellow arrow in frames A and B point to a hyperdense region in the left lower lobe of the lung with small cystic lesions containing air within it. The red arrows in frames C and D show a contrast enhanced vessel arising from the aorta and supplying the area of hyperdensity in the lung.

visualized

with

vascular

contrast enhancement.

Imaging Studies

(Chest CT scanning)
Congenital lobar emphysema: In congenital lobar emphysema, the involved lobe and its vascularity can be easily outlined as compared to normal lung parenchyma.

Fig. 53. Axial CT of an infant with mediastinal shift shown on a chest radiograph showing hyperinflation of the left upper lobe without destruction of the alveolar walls, consistent with congenital lobar emphysema

Imaging Studies

(Chest CT scanning)
o Cystic of cystic adenomatoid adenomatoid can be malformation: Different types malformation

differentiated more accurately

with
Fig. 54. Chest CT scan shows an abnormal left lung with extensive, thin walled, well-defined cystic lesions. Some of the lesions appear to contain small amounts of fluid (short arrow). There is a mediastinal shift to the left and hyperexpansion of the right lung (long arrow).

CT

than

with

chest

radiography. Lesions that may appear to have resolved on

radiography

can

still

be

identified on the chest CT scan.

Imaging Studies (MRI)


o MRI: MRI is particularly useful when delineation of blood vessels is important. It is the study of choice in difficult cases of bronchogenic cysts.

o The cysts appear bright on T2weighted images and do not enhance after the administration of

gadolinium-based
Fig. 55. MRI in the supine (A, B) and right lateral decubitus (C, D) positions. Bronchogenic cyst masquerading as pericarditis.

contrast

material.

Imaging Studies (MRI)


o Pulmonary sequestration: MRI and magnetic (MRA) resonance can be angiography

performed to identify pulmonary pathology, and aberrant systemic

vessels. MRI and MRA have been


suggested procedures lung.
Fig. 56. MR-Angiography showing an aberrant vessel from the celiac trunk (white arrow) to a lung sequester in the right lower lobe.

as of

the

diagnostic for

choice

evaluating sequestration of the

Imaging Studies (MRI)


o Cystic malformation: In adenomatoid cases of

hydrops fetalis in a fetus with a prenatal, MRI may be beneficial for planning surgery. Cysts larger

than 3 mm are depicted as areas of


increased signal intensity on T2weighted images.

Fig. 57. Congenital cystic adenomatoid malformation. Fetus at 22 weeks gestation. a, b and c Fetal sagittal, coronal, and axial single-shot fast spin-echo MR images of the fetal chest show a complex hyperintense lesion with cysts inside in the right lung (arrows). CT after birth d shows the lesion, which is proportionally smaller than in the MR images

Imaging Studies

(Prenatal ultrasonography)
o Lesions on prenatal sonograms may shrink or disappear with advancing gestational age. o Most pulmonary parenchymal lesions appear as echogenic fetal chest masses. o The masses may be unilateral (eg, in cystic adenomatoid malformation, congenital diaphragmatic hernia, pulmonary sequestration) or bilateral (eg, in tracheal atresia). o A cystic component is seen in cystic adenomatoid malformation and congenital diaphragmatic hernia (CDH) and can make differentiation of these lesions difficult.

Imaging Studies

(Prenatal ultrasonography)
o Pulmonary hypoplasia: In lung hypoplasia, renal malformations, oligohydramnios, decreased fetal movements in neuromuscular disease, dysmorphisms in trisomies, and skeletal dysplasias may be identified. The thoracic-to-abdomen ratio and lung area are useful parameters. Pulmonary arterial flow can be measured by using Doppler studies.

Fig. 58. Diaphragmatic Hernia. A. Transverse image through the chest shows the stomach (S) and a large volume of small bowel (straight arrows) occupying the left chest and displacing the heart (curved arrow) into the right thorax. No lung is visible, indicating that severe pulmonary hypoplasia is very likely. B. In another fetus, a moderate volume of lung (L) is visible in the right thorax even though the heart (long arrow) is displaced rightward by the herniation of bowel (short arrows) and stomach (S) into the left thorax.

Imaging Studies

(Prenatal ultrasonography)
o Congenital lobar emphysema: In congenital lobar emphysema, a large fluidfilled lobe may be seen.

Fig. 59. Sagittal section of the thorax showing enlargement of the left lung. The right lung has normal echogenicity.

Imaging Studies

(Prenatal ultrasonography)
o Cystic adenomatoid malformation: In cystic adenomatoid malformation, a unilateral cystic mass is seen. However, the patient's postnatal clinical course and chest radiographic findings may be normal, and CT, MRI, and/or MRA may be indicated.

Fig. 60. 27th week of gestation. Image shows an axial view through the area of cystic adenomatoid malformation of the left fetal lung, type I. Large anechogenic, left-sided lesion (arrow) displaces the heart to the right.

Imaging Studies

(Isotope ventilation scanning)


o Although specific changes occur on isotope ventilation scanning, this modality seldom adds clinically useful information. o In congenital lobar emphysema, decreased ventilation initially occurs, followed by isotope retention. o Attenuated vascularity results in decreased perfusion.

o Sequestration does not fill up at all during the early pulmonary phase, but it
does during the systemic (late) phase. o The value of radionuclide imaging is limited because of the lack of anatomic

details.

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