CONGENITAL ANOMALIES OF AIRWAY AND LUNG PARENCHYMA

DR.GOPAL CHAWLA JUNIOR RESIDENT, DEPT OF PULMONARY MEDICINE, GMC, PATIALA

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SEMINAR OUTLINE
•INTRODUCTION •EMBRYOLOGY OF LUNG DEVELOPMENT •CLASSIFICATION •INDIVIDUAL AMOMALIES

•CONCLUSION

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INTRODUCTION
•Developmental anomalies of lung are usually detected in neonatal period and early childhood •Some are not encountered until late childhood and adulthood

•Some can be confused with more sinister abnormalities
•While some can often be missed

•An understanding of imaging features and the clinical presentation is important for any respiratory physician

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saccular. and alveolar •During the fourth week (26th day) of gestation the Respiratory diverticulum (lung bud)appears as an outgrowth from the ventral wall of the foregut .Embryologic Development of the Lungs •The intrauterine development of the human lung has been divided into five phases: embryonic. pseudoglandular. •Respiratory portion of gut becomes separated from esophageal by tracheoesophageal septum •Lung buds elongate into primary lung sac and the 5 lobar bronchi appear upto 5th week this is Embryonic phase • 4 . •Next 2days right and left bud arise from outpouching. canalicular.

24 •Lung morphology changes dramatically •differentiation of the pulmonary epithelium results in the formation of the future air-blood tissue barrier.17 •tubular branching of the human lung airways continues •by 2 months all segmental bronchi are present.Pseudoglandular stage •week 5 . •stage is critical for the formation of all conducting airways. 5 . •lined with tall columnar epithelium. •Surfactant synthesis and the canalization of the lung parenchyma by capillaries begin. •lungs have appearance of a gland like structure. the more distal structures are lined with cuboidal epithelium. Canalicular stage •week 16 .

•The vascular tree also grows in length and diameter during this time. They are delimited by secondary septa. 6 .Saccular stage •week 24 to near term. •saccules widen and lengthen the airspace (by the addition of new generations). •future gas exchange region expands significantly. •most peripheral airways form widened airspaces. Alveolar Stage In the alveolar phase after birth more and more alveoli form from the terminal endings of the alveolar sacculi and with time increase in diameter. termed saccules.

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ANOMALIES OF AIRWAY 10 .

or unilateral Bilateral choanal atresia often have respiratory distress episodes immediately after birth. The child can not breathe during normal circumstances and can only breath when they open their airway to cry 11 . These are relieved only when the patient begins to cry. Seen more often in females than in males. It can be bilateral. It is rare. occurring in 1 in 7000 live births.Anomalies of higher airway Choanal Atresia Choanal atresia is a congenital narrowing of the back of the nasal cavity that causes difficulty breathing.

Ten percent of cases are congenital. Laryngeal Atresia Laryngeal atresia is a complete upper airway obstruction that occurs when the larynx fails to open during a baby's development in utero and remains blocked by cartilage or other tissue . In 90 percent of cases. glottic stenosis is the result of prolonged endotracheal intubation. The infant will require an immediate tracheostomy at birth in order to survive. or present at birth. 12 . This condition is also called CHAOS (Complete High Airway Obstruction Syndrome).Glottic stenosis Glottic stenosis is a narrowing of the larynx where the vocal cords are scarred together. Posterior glottic stenosis (narrowing in the back of the vocal fold area) may occur in conjunction with subglottic stenosis.

•The laryngeal structure is malformed and floppy.Laryngomalacia •Laryngomalacia is a congenital softening of the tissues of the larynx above the vocal cords. resulting in variable degrees of communication between the airway and esophagus. causing the tissues to fall over the airway opening and partially block it. •will resolve without surgery by the time they are 18 to 20 months old Laryngotracheal Cleft (LTC) •Laryngotracheal cleft (LTC) is a rare congenital defect in which there is a gap between the upper airway passage (larynx and possibly trachea) and the food passage (esophagus) •septum does not completely develop. •This is the most common cause of noisy breathing in infancy. Because of the defect the child can inadvertently aspirate food or even secretions into the lungs 13 .

•The trachea may be completely absent (agenesis). affected newborns survive only if an alternate pathway for ventilation (eg. or it may be partially in place but considerably underformed (atresia). Because of the lack of a normal continuous airway. 14 . •Communication between the larynx proximally and the alveoli of the lungs distally is lacking. Caudally. the respiratory diverticulum will develop into the carina and broncho-pulmonary tree. Merei JM.Tracheal Agenesis and Atresia . •According to Merei et al . They are uniformly fatal and are fortunately quite rare •Since first reported by Payne in 1900. a patent bronchoesophageal fistula) exists. Hutson JM: Embryogenesis of tracheoesophageal anomalies: a review.Pediatr Surg Int 2002. less than 100 cases have been reported to date. the point of bifurcation between the developing trachea and developing esophagus at foregut remains fixed in relation to the cervical vertebra. 18:319-326. Tracheal agenesis results when this normal elongation process fails to take place. The cephalic aspect of the respiratory diverticulum will be elongated to form the trachea and the infra-glottic structure.

Type I. the two mainstem bronchi arise individually from the anterior esophageal wall. with a fistula between the esophagus and carina from which the two mainstem bronchi originate (commonest). a short segment of distal trachea arises from the anterior wall of the esophagus before dividing into the mainstem bronchi. Tracheal agenesis should be suspected in a newborn baby who presents with immediate respiratory distress. Type II. Type III. 15 . as well as extremely weak cry and failed intubation despite adequate ventilation with facemask.Floyd’s classification of tracheal agenesis In all three types a tracheoesophageal fistula exists (arrowhead). there is complete agenesis of the trachea.

•A variety of stenosis patterns have been described. 16 . • Infants diagnosed early in life . Approximately 50% of congenital tracheal stenoses are focal. resulting in a fixed tracheal narrowing. usually in the lower third.worse prognosis. often with biphasic stridor. and 20% funnel-shaped •The entity may be seen in isolation or in conjunction with other anomalies. It is a rare congenital anomaly in which the left pulmonary artery originates from the right pulmonary artery and encircles the right mainstem bronchus and distal trachea. the most common of which is the pulmonary artery sling complex . causing compression of each. •Focal congenital tracheal stenosis consists of a simple local narrowing of the trachea. 30% generalized. • Degree of stenosis more critical than length.Tracheal stenosis •Congenital tracheal stenosis is a rare disorder characterized by the presence of focal or diffuse complete tracheal cartilage rings. The distal end of the trachea and bronchi are of normal size •90% present during the 1st year of life.

Recurring pneumonia 3. Microlaryngoscopy and bronchoscopy help differentiate between tracheal lesions and other lesions in the larynx that can cause stridor and respiratory distress. 17 . CT only in selected cases. Chest congestion Diagnosis . Cyanosis (blue-spells) 5. Helical CT or Electron Beam. Wheezing 4.Symptoms include: 1. Apnea (breathing pauses) 6.useful for evaluating dynamic changes in the airway.Frontal and lateral high-kilovoltage filtered radiographs combined with barium esophagography. Noisy breathing (stridor) 2.CT . and can help show the degree and length of narrowing in the trachea.

Airway stents – Small tubes are placed in the airways to hold the airways open. Argon plasma coagulation (ACP) – Argon is used to apply heat to the scar • or tumor tissue to open the narrowing o that they overlap. the condition may improve over time. Slide tracheoplasty. For severe narrowing involving a few tracheal rings. Then a vertical incision is made in the back part of one segment and the front part of the other tracheal segment. scar tissue may be divided with a sickle knife and then dilated with an angioplasty-like balloon during an endoscopic. . the narrow part of the trachea is cut horizontally. Milder forms of tracheal stenosis which do not significantly affect the patient may be monitored with close observation . More severe cases may require open surgical intervention with reconstruction. • In less severe cases of tracheal stenosis. tracheal resection and anastomosis may be performed. As the child and the airway grows.Treatment for tracheal stenosis Observation. Finally. This involves surgically removing the defective tracheal segment and then repairing the airway by suturing the remaining ends back together. non surgical procedure. In long-segment tracheal stenosis. In this surgery. SURGICAL Tracheal resection and primary anastamosis. a slide tracheoplasty is required. NON SURGICAL Balloon dilation. the two sections are slid together and 18 sutured . The formation of new scarring can be avoided by injecting the tissue with a steroid or mitomycin during the time of balloon dilation. providing a wider tracheal airway.

Tracheomalacia can be classified as primary and secondary. Rarely thryoid malignancies may cause secondary tracheomalacia. It could be mediastinal mass. Since majority of trachea lies intrathoracic obstruction occurs during expiration. and if it is intrathoracic then the obstruction occurs during expiration. In children chronic aspiration can cause secondary tracheomalacia. Primary tracheomalacia occurs as a primary lesion due to abnormal development of tracheal cartilage. 19 . vascular arches and malformations compressing trachea.Tracheomalacia Tracheomalacia is defined as tracheal wall softening due to an abnormality of the cartilaginous ring and hypotonia of the myoelastic elements. If the lesion involves the extrathoracic portion of trachea then obstruction occurs during inspiration. Tracheomalacia exists when the cartilaginous framework of the trachea is unable to maintain airway patency. Secondary tracheomalacia occurs always in conjunction with conditions that compress the airway.

These children are also known as "Happy Wheezers" because despite their airway problems they maintain good oxygen saturation and grow normally which is in contrast to patients suffering from cystic fibrosis or bronchial asthma.Age of occurence: Since tracheomalacia commonly encountered is of primary variety. Physical findings: 1. Feeding difficulties have also been reported 4. Patients respiratory rate and oxygen saturation are mostly normal except in extreme cases when the respiratory rate may increase. Thoracic deformity is also seen in some patient with tracheomalacia 20 . The baby appears to be clinically well despite the wheeze 2. 3. In majority of cases the tracheal lumen increases in size. it is seen in infants and young children. Inspiratory retraction of supraclavicular and intercostal spaces occur 5. and the tracheal cartilages firm up causing resolution of symptoms by the time child reaches the age of 3 Complaints: The patient has wheeze which manifests in affected child between 4-8 weeks.

Dynamic expiratory CT scans may be useful in clinching the diagnosis Cineflouroscopy with contrast in the oesophagus may also demonstrate tracheomalacia Bronchoscopy: Is diagnostic. •Continuous postitive pressure ventilation may be adminsitered via nasal mask to tide over acute crisis. Loss of normal semicircular shape of tracheal lumen 2.Investigations: X-ray chest may reveal hyperinflation and tracheal lumen narrowing during expiration. If the patient has retained secretions. The cardinal features seen in bronchoscopy are: 1. Vascular anomalies like double aortic arch may also be revealed in the chest radiograph. Most of the infants manage to out grow this problem by the time they reach 3 years. Forward ballooning of posterior tracheal wall 3. . •Reflux oesophagitis if present should be treated aggressively. •Systemic steroids may be of some help in some patients with associated tracheitis. chest physiotherapy may be of help. Antero posterior narrowing of tracheal lumen Management: •Primary tracheomalacia of milder variety can be managed by conservative means. If tracheomalacia involves proximal segment of trachea then tracheostomy or stenting can be 21 resorted to in extreme cases.

(b) Axial CT image at the end of forced inspiration revealed complete inflation of the trachea (c) Axial CT image at the end of forced expiration revealed complete flattening mounting to near total collapse of the trachea with lunate configuration of the trachea which is characteristic for tracheomalacia (black arrows).a) Axial CT image in the neutral position (quiet inspiration) revealed flattening of the distal trachea with increased coronal diameter relative to sagittal diameter (yellow arrow). (d) CT bronchography image revealed the 22 previously mentioned flattening of the distal trachea as labeled in the image. By dynamic CT. .

posterior. the tracheal bronchus is defined as displaced Superanummery Tracheal Bronchus if the right upper-lobe bronchus has a normal trifurcation into apical. •PIG Bronchus is said when entire upper lobe is aerated by this bronchus.•Tracheal bronchus was described by Sandifort in 1785 as a right upper bronchus originating in the trachea. and anterior segmental bronchi. This anomalous bronchus usually exits the right lateral wall of the trachea less than 2 cm above the major carina and can supply the entire upper lobe or its apical segment Displaced Tracheal Bronchus If the anatomic upper-lobe bronchus is missing a single branch.2% and there is a marked right sided predilection •Tracheal bronchus includes a variety of bronchial anomalies arising in the trachea or main bronchus and directed toward the upper-lobe territory. the tracheal bronchus is defined as supernumerary 23 Tracheal Bronchus (Pig Bronchus or bronchus suis) . •The rate of incidence is estimated to range around ~ 0.1 .

180 (7): 783. Tracheal bronchus. 24 . in that case.The supernumerary bronchi may end blindly. Lee WJ. If they end in aerated or bronchiectatic lung tissue. 2009. CMAJ. they are called tracheal diverticula. but the diagnosis of tracheal bronchus should be considered in cases of persistent or recurrent upper-lobe pneumonia. and chronic bronchitis. Shih FC. they are termed apical accessory lungs or tracheal lobes Patients are usually asymptomatic. Lin HJ. atelectasis or air trapping.

Gower WA. Thorax. 2008. Mcgrath-morrow SA.CT is Best for assessing anatomy. Coronal multi-planar reconstructions in "lung window" settings are the most helpful and is best in depicting this anomaly. Tracheal bronchus in a 6-monthold infant identified by CT with three-dimensional airway reconstruction. Allows direct visualisation and orientatation of anomalous bronchus.63 25 . Macdonald KD et-al.

separated by esophagotracheal septum TOF: esophageal and tracheal failure to separate during divison of the endoderm SUSPECTED WHEN Esophageal atresia in the fetus should be considered as a cause of Maternal polyhydramnios. •Infants may develop rattling respiration and episodes of coughing and choking in association with cyanosis.  Absence of stomach gas  Develop copious. fine white frothy bubbles of mucus in the mouth and nose. Secretions recur despite suctioning. •Symptoms worsen during feeding 26 .Tracheo-esophageal Fistula (TOF) Esophagus and tracheal originate from the median ventral diverticulum of the forgut.

regurgitation. 27 . •small abdomen. •absence of fluid-filled stomach. •lower-than-expected fetal weight.Clinical Symptoms of Child with TOF • Drooling. atelectasis (abdomen P) Prenatal diagnosis of congenital TEFs: Prenatal ultrasound may reveal •polyhydramnios. •distended esophageal pouch. Coughing &Choking on feeding • Scaphoid abdomen = EA • Distented abdomen = TEF • Cyanotic episodes • Inability to pass OGT • Pneumonia .

Absence of a gastric bubble indicates esophageal atresia without a TEF or esophageal atresia with a proximal TEF. without contrast medium.Presence of TEF was correctly diagnosed with multidetector-row CT esophagography. Multidetector. Bronchoscopy • Level of fistula • Exclude upper pouch fistula • Identify laryngoesophageal cleft 28 . Furthermore. This finding is diagnostic of TEFs associated with esophageal atresia. Insertion of a nasogastric tube may show coiling in the mediastinum of patients who have concomitant esophageal atresia. Chest radiography leads to the diagnosis of TEF in most cases of congenital TEF Aspiration pneumonia in the posterior segments of the upper lobes may occur secondary to aspiration of the contents from the esophageal pouch or stomach. and.Postnatal diagnosis of congenital TEFs Plain chest radiographs may reveal tracheal compression and deviation. Recurrent or massive aspiration may lead to acute lung injury in some patients.row CT . it is a less invasive examination. the images provided crucial information for planning surgery.

Type b has a connection (fistula) between the upper pouch and the trachea (a TEF). Type e has only a TEF and no EA. This is usually referred to as an H or N shaped fistula and may be 2-4% of this group. The H-fistulas are divided surgically and nothing further needs to be done to the esophagus which is intact and reaches normally to the stomach 29 .Type a is EA without a TEF and is often called pure EA. Type d with two TEFs. Type c is by far the most common form of EA and has a fistula between the lower esophagus and the trachea (one form of TEF) with a blind upper pouch. one between both the upper and lower esophageal segments and the trachea.

Management Medical • • • • • • • • NPO Avoid bag-mask ventilation 45° head up Low continuous suctionin of esophageal pouch Pediatric centre transfer IVF. TPN as needed ECMO • Surgical One stage repair: optimal surgical management – Fistula is ligated. when infant can withstand both surgery and anesthesia – Method: right thoracotomy using a posterolateral extrapleural approach – Fistula is ligated. Abx VitK. proximal and distal ends of the esophagus are anastomosed Gastrostomy: – High risk infants unable to withstand a thoracotomy – Decompress the stomach and prevent regurgitation via fistula into the lungs • • Definitive repair – 24-72 hours later. esophageal 30 segments are anastomosed .

middle. 31 . mostly in young men. and lower lobes •Most often affects segmental bronchi at or near their origin. and interbronchiolar channels The alveoli supplied by these bronchi show features of air-trapping. followed by segmental bronchi of the right upper. bronchoalveolar channels of Lambert. resulting in a region of hyperinflation around the dilated bronchi •The abnormality is an incidental finding in approximately 50% of cases. •Bronchi distal to the stenosis become filled with mucus → bronchocele.Bronchial Atresia •Congenital bronchial atresia is a rare anomaly that results from focal obliteration of a proximal segmental or subsegmental bronchus that lacks communication with the central airways while development of distal structures is normal •The apicoposterior segmental bronchus of the left upper lobe is most often involved. and generally produces no symptoms or signs. •Distal hyper-inflation is believed to be caused by collateral ventilation through intraalveolar pores of Kohn.

The presence of a mucocele with adjacent hyperinflation helps narrow the differential diagnosis. White JJ. 138:48-53. Dorst JP. or any lesion that causes bronchial narrowing and thus mucus impaction. The syndrome of bronchial atresia or stenosis with 32 mucocele and focal hyperinflation of the lung. segmental overinflation and hypovascularity The differential diagnosis includes other abnormalities with mucus impaction.Characteristic chest radiographic finding Bronchocele → A classic radiographic finding of bronchial atresia is a branching tubular or nodular area of increased opacity that extends from the hilum with surrounding hyperlucent lung parenchyma. such as allergic bronchopulmonary aspergillosis. cystic fibrosis. Images acquired during both inspiration and expiration may help confirm that a lung is hyperinflated. Oh KS. CT. Johns Hopkins Med J1976. .Sensitive modality for demonstrating the typical features → mucoid impaction .

representing mucoid impaction just distal to the atresia. 33 .CT is an excellent modality for excluding the presence of a hilar mass and precisely determining delineation and location of lesions. medial to the air trapping. (b) CT scan in the same patient shows a round opacity at the site of the atresia. Bronchial atresia (a) CT scan shows air trapping in the right upper lobe (arrows).

Bronchogenic Cyst Bronchogenic cysts form as a result of abnormal budding of the bronchial tree during embryogenesis (between 4th . The wall is made up of tissues similar to that of the normal bronchial tree. and roughly spherical in shape and are filled with either mucoid or serous fluid and do not communicate with tracheobronchial tree unless they become infected .  The incidence of mediastinal cysts is equal between the sexes whereas intrapulmonary cysts are reported to have a male predilection Bronchogenic Cyst are usually solitary . including cartilage.6th weeks). thin walled unilocular .10% of paediatric mediastinal masses . and as such they are lined by secretory respiratory epithelium (cuboid or columnar ciliated epithelium) . in that case cyst fluid may be replaced by pus or airfluid level Aspiration of cyst yielding mucus and bronchial epithelial cell confirm the diagnosis 34 . elastic tissues. mucous glands and smooth muscle Bronchogenic cysts are rare congenital lesions accounting for only 5 .

The most common location is the middle mediastinum (65 .90%). The distribution of locations can be quite varied : Mediastinal : ~ 70% usually does not communicate with the tracheo-bronchial tree sub-carinal. right paratracheal and hilar locations most common approximate incidence includes carinal area : ~ 50% para-tracheal area : ~ 20% orophageal wall : ~ 15% retrocardiac area : ~ 10% Parenchymal (intrapulmonary) typically perihilar predilection for lower lobes Other uncommon locations neck cutaneous pericardium extending across the diaphragm and appearing dumb-bell shaped retroperitoneal 35 .

persitent cough and chest pain Paratracheal and carinal most common Majority oval and round Cleary defined mass of homogenous density in Right paratracheal region or just inferior to and slightly to the right of carina In contrast to pulmonary rarely communicates w ith tracheobronc tree Calcification is uncommon Almost 50 % have higher attenuation CT 130 U making it indistinguishable from soft tissue because of higher level of protein content On MRI variable intensity on T1 weighted imaged while consistently high 36 intensity signal on T2 images • • • • • • • .Pulmonary Bronchogenic Cyst • If uninfected No symptoms • Most common symptom Hemoptysis if infected • Sharply circumscribed . round or oval nodule or mass . usually in medial third of lung • Prediliction of lower lobe • Lesion don’t communicate with tracheobronchial tree • Sometimes get calcified • If communicate . it may incorporate check valve mech causing rapid expansion of it • On CT smooth thin wall with non enhancing homogenous attenuation at near water density (0-20HU) • On MRI signal intensity on T1 weighted images is intermediate between that of muscle and subcutaneous fat Mediastinal Bronchogenic Cyst • • 5 types Symptoms because of pressure . dyspnoea on exertion stridor .

Pulmonary Bronchogenic Cyst Mediastinal Bronchogenic Cyst 37 .

these lesions are treated with transbronchial or percutaneous aspiration under CT guidance to both confirm the diagnosis and to treat them. sometimes rapidly 38 . Some advocate surgical excision of all cysts given their tendency to become infected or rarely. to undergo malignant transformation . however they do have a tendency to increase in size over time. but reported. with primaries including : rhabdomyosarcoma pleuropulmonary blastoma anaplastic carcinoma leiomyosarcoma adenocarcinoma Treatment and prognosis The choice of treatment is somewhat controversial. Small lesions can be followed.Complications •Fistula formation with the bronchial tree •Ulceration of the cyst wall •Secondary bronchial atresia •Superimposed infection •Haemorrhage •Malignant transformation is very rare. Increasingly.

In some patients with lung parenchyma supplied by this bronchus. the bronchus may have branches and a an amount of aerated lung parenchyma 39 .09 to 0. morphology and length (range from 5mm to 5cm) •The vast majority of cardiac bronchi are asymptomatic.5% of individuals . Haemoptysis has also been described •. arising from the inner wall of the right main bronchus or intermediate bronchus opposite to the origin of the right upper lobe bronchus •Its rare and is reported in around 0. In the remainder.Accessory Cardiac Bronchus •A cardiac bronchus is a rare variant of normal bronchial anatomy . abnormal drainage predisposes to repeated chest infection . Males predilection • It is the only recognised true supernumerary bronchus. It is variable is size. In about half of cases the cardiac bronchus is a short blind ending bronchial stump with no branches and does not supply any lung parenchyma.

.show an accessory cardiac bronchus (arrowhead) that originates from the medial aspect of the right main bronchus endoscopic view shows accessory cardiac bronchus separated by a spur from the 40 middle part of the intermediate bronchus.

Symptomatic patients may present with recurrent infections or hemoptysis 41 . which distinguishes it from an acquired fistula or diverticulum •Most patients with an accessory cardiac bronchus are asymptomatic. It appears as a continuation of the the lumen of the right main bronchus. toward the pericardium • It is lined by normal bronchial mucosa and has cartilage within its walls. projecting medially and directly inferiorly towards the posterior aspect of the heart.•A cardiac bronchus is almost always an incidental finding of CT examination of the chest. In some cases the dependent lung parenchyma may be collapsed and mimic a soft tissue mass •The accessory cardiac bronchus has a round orifice and is directed caudally.

•Of importance during resective surgeries •The abnormalities are more often additive than subtractive •The most common major anomaly is a supernumerary right upper lobe bronchus .which may arise anywhere from the trachea or right main bronchus •Absence of an upper lobe bronchus is the most common of the major subtractive abnormalities (0. resulting in a so-called bilateral left or right 42 lung .Abnormal patterns of bronchial branching •Incidental finding during bronchoscopy . •The most common segmental anomaly is a double-stem apical lower lobe segmental bronchus that occurred in 7% .3%). the incidence being slightly higher on the right than on the left •Bronchial isomerism is a term applied to a rare group of developmentally anomalous syndromes in which the normal pattern of bronchial branching in either the left or the right lung is mirrored in the contralateral lung.

Anomalies of the Lung 43 .

Agenesis : bronchus and lung are absent Group 2. Hypoplasia : there is bronchial hypoplasia with variable reduction of lung tissue 44 . Aplasia: a rudimentary bronchus is present and limited to a blind-end pouch without lung tissue Group 3.Pulmonary Underdevelopment Pulmonary underdevelopment has been classified into three groups by Schneider and Schwalbe Group 1.

this suggests that the right-lung agenesis has a greater frequency of an associated shift of the heart and mediastinum.Lung Agenesis •The abnormality is usually unilateral. with corresponding distortion of bloods vessel and bronchi 45 . •Patients with right-lung agenesis have a shorter life expentancy than those with leftlung agenesis. whereas the rib anomalies are variable. The contralateral lung is normal in structure but has compensatory hypertrophy. and there is no side or gender predominance •Most of the limb and spinal anomalies are ipsilateral to the pulmonary agenesis.

The diagnosis of lung agenesis is usually first suspected at chest radiography that demonstrates a small. the agenesis may be confined to one lobe. most frequently the left upper lobe 46 . completely opaque hemithorax with displacement of the mediastinal structures and diaphragm Ocasionally.

and angiography demonstrates the absence of pulmonary and bronchial arteries on the side of the absent lung .Bronchography verifies that the mainstem bronchus is completely missing. and pulmonary vessels on the affected side . CT angiography and MR angiography are currently the imaging modalities of choice in the diagnosis of this entity. and angiography may provide important diagnostic information. 47 . with angiography used only in selective cases. MR imaging. bronchial tree. showing the absence of lung parenchyma. Conventional CT.

Extralobar sequestration. •It is characterized by the presence of both bronchi and alveoli in an underdeveloped lobe. and it is caused by factors directly or indirectly compromising the thoracic space available for lung growth Extrathoracic Causes 1. unilateral absence of the pulmonary artery) Intrathoracic Causes 1. 48 . a rare entity in which a small and rigid thoracic cage produces a decrease in lung volume.Pulmonary Hypoplasia •is defined as deficient or incomplete development of the lungs . Oligohydramnios 2. Jeune syndrome (asphyxiating thoracic dystrophy). Large pleural effusion 4. are the most common 2. agenesis of the diaphragm 3. Potter syndrome 3. Congenital diaphragmatic hernia. Decreased pulmonary vascular perfusion (tetralogy of Fallot.

Most common manifestation is early respiratory distress after birth, cyanosis, tachypnea, hypoxia, hypercapnea, and acidosis.  Pneumothorax and pulmonary hypertension are common serious complications

Anteroposterior chest radiograph of a 7month-old infant shows opacity of the left hemithorax and pulmonary hypoplasia with ipsilateral displacement of the mediastinum, secondary to repaired Bochdaleck hernia.

MR imaging may provide additional valuable information. Normal pulmonary tissue has homogeneously high signal intensity. In fetuses with lung hypoplasia, a decrease in signal intensity has been reported
49 Çay A, Sarihan H. Congenital malformation of the lung. J Cardiovasc Surg2000; 41:507-510.

Congenital Cystic Adenomatoid Malformation CCAM /CPAM
•Congenital cystic adenomatoid malformation is a rare abnormality of lung development. •CCAM is a cystic area within the lung that stems from abnormal embryogenesis. •First described by Ch'in and Tang in 1949 •Recently termed Congenital Pulmonary Airway Malformation CPAM • An adenomatous overgrowth of the terminal bronchioles with a consequent reduction in alveolar growth occurs. •Characterized by architecturally abnormal pulmonary tissue with or without gross cyst formation, with vascular supply is more often by pulmonary circulation . •Pathogenetically, congenital cystic adenomatoid malformation has been attributed to an overgrowth of bronchioles, with almost complete suppression of alveolar development between the 7th and 10th weeks of embryonic life •Cases are typically identified prenatally by routine ultrasonography screening. Most postnatally identified cases present in the newborn period. Prenatal Ultrasound Classification of Adzick (macrocystic = >5 mm; microcystic = <5 mm) •CCAM may present in the older child and adult as an incidental finding or secondary to repeated infection

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Stocker’s Classification 1971,2001
Type Type | Salient features •Most common 59 % •Large multi loculated cysts , 1 or more cyst more than 2cm •Cyst wall lined by smooth muscle but no cartilage •Lined by bronchiolar type epithelium •Foci of mucus secreting epithelium seen in adjacent lung tissue , in lepidic pattern identical to bronchioalv ca 38 % Intermediate form Solid areas separated by fairly even spaced cysts measuring1 to 10 mm Lined by ciliated columnar or cuboidal epithelium 9% Solid form Bulky solid mass of tissue without gross cyst formation Microscopically abnormal tissue composed primarily of irregularly shaped bronchiolar and alveolar structure resembling PSEUDOGLANDULAR period of fetal development
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Type ||

Type |||

It represents severe global arrest of lung development. and is incompatible with life .In 2001.5 cm). It is not readily distinguishable either clinically or radiologically from type 1 CCAM/CPAM. adding type 0 lesions (previously reported as acinar dysplasia of the lung) and type 4 lesions (a type of peripheral lung cyst manifesting with pneumothorax). has either no cysts or very small ones (<0. Also known as acinar dysplasia or agenesismay involve any of the pulmonary lobes. however. Stocker expanded that classification. it has a unique association with tension pneumothorax 52 . The lesions were renamed types 0–4 CPAM because neither cystic or adenomatoid features are always present. Type 0 CPAM is the least common type of CPAM and accounts for less than 3% of all cases. Type 4 CPAM consists of large cysts up to 10 cm in diameter and accounts for 10%–15% of cases of CPAM .

Pulmonary hypoplasia may arise as a consequence of a large CCAM. which has been described as a presenting feature of CCAM. and air trapping within the cyst leads to compression of functional pulmonary tissue. fever. mediastinal shift may compromise cardiac and respiratory function.Respiratory distress is the presenting symptom in most newborns . 5.Recurrent infection: risk of recurrent pulmonary infections due to bronchial compression.Dyspnea and chest pain: Dyspnea may be a feature of pneumothorax.Miscellaneous: Cough. and a mild oxygen requirement to fulminant respiratory failure requiring aggressive ventilator support or extracorporeal membrane oxygenation (ECMO). It may range in severity from grunting. 2. spontaneous pneumothoraces may occur. tachypnea.Hemoptysis: Hemoptysis has occasionally been described as a manifestation of CCAM in the older child. 4. and failure to thrive have all been reported in association with the presentation of CCAM. and inability to clear secretions. 3.Physical Signs and Symptoms 1. air trapping. 53 .

Type I CCAM (a)AP chest radiograph of a 5year-old shows a bubbly mass in the left upper lobe with a dominant air cyst more than 4 cm in diameter (arrows). (b) Coronal T1-weighted image in the same patient shows cysts (arrows) smaller than 2 cm in diameter. clearly delineated cystic mass Type II CCAM . 54 . (b) CT scan of the same patient shows a hypoattenuating. a)X rayof a newborn shows a heterogeneous bubbly mass in the left lung displacing mediastinal structures to the right.

Although some antenatally diagnosed lesions (4%–15%) may regress postnatally within the first year . Chuang S. since segmental resection may result in incomplete resection or persistent pneumothorax. 55 .Management •Symptomatic infants with CCAM/CPAM should undergo urgent surgical excision—generally lobectomy. Sugo E. •The management of asymptomatic cases is controversial. Jaffe A .20(3):179–204. persistent unresected lesions carry a risk of recurrent lung infections and a small risk of the subsequent development of a malignant neoplasm •Priest et al suggest that surgery be delayed until a child is 9 months old to allow possible spontaneous resolution of CCAM/CPAM without putting the patient at risk for malignant transformation. and most pediatric surgeons advocate elective resection . Fetal Matern Med Rev 2009.A review of postnatal management of congenital pulmonary airway malformations.

and its venous drainage is via the azygous system. usually the thoracic or abdominal aorta. or the inferior vena cava Sequestration is divided into two types: extralobar and intralobar 56 .Pulmonary sequestration Pulmonary sequestration is defined as an aberrant lung tissue mass that has no normal connection with the bronchial tree or with the pulmonary arteries. The arterial blood supply arises from the systemic arteries. the pulmonary veins.

• May also be located in the mediastinum. pericardium. (90 % left sided). intercostal arteries(10%–15%) • Venous Drainage : Systemic Circulation (Azygous System/IVC) 80% Pulmonary Circulation 20 % • diagnosed early (4:1 Male predominance) • Associated with other congenital malformations (~50%) Intralobar • Shares the visceral pleural covering of the normal adjacent lung tissue(75% of PS). • Usually located in the posterobasal portion of the lower lobes. • Arterial supply : Abdominal/ thoracic aorta (85-90%) CeliacAxis. • usually diagnosed in childhood 57 .Extralobar • Entirely separate segment of lung tissue invested in its own pleural layers (25% of PS). • Typically found in the costophrenic sulcus on the left side.subclavian arteries. • Arterial Supply : Thoracic/ upper abdominal aorta • Venous Drainage: Pulmonary venous system. and within or below the diaphragm.

USG: Hyperechoic mass. usually in the posterior basal hemithorax Sometimes it is associated with a small cyst.Prenatal Diagnosis 1. Extralobar sequestration may be seen as an infradiaphragmatic mass. 2. Prenatal MR imaging shows a well-defined mass with sharp margins and high signal intensity 58 . Color Doppler ultrasonography is useful for demostrating anomalous vessels and tracing them to their origin 3.

and a hypervascular focus of lung tissue 3. Chest X Ray. focal emphysema. and prominence of the ipsilateral hilum are additional radiographic findings 2. it has the appearance of a soft-tissue opacity in the posterior basal segment of the lung.Postnatal Diagnosis 1.. MR imaging and angiographic MR imaging are better for differentiating the cystic. with smooth or lobulated margins. They also demonstrate the systemic vascular supply of the sequestration 59 . solid. and mucous components of the mass than is CT. CT scans show a soft-tissue cystic mass containing air or fluid. Brochiectasis. subsegmental atelectasis. mediastinal shift. CT Chest . hemorrhagic.

Coronal postnatal CT scan shows a homogeneous mass in the posterior segment of the left lower lobe. a finding that is diagnostic for sequestration. the larger of which (*) is seen with a vascular supply (arrow) from the descending aorta. A feeding artery (arrow) is seen arising from the aorta. 60 . Intraoperative photograph obtained patient with sequestration shows variable-sized ectopic masses inferior to the lung.

it is not familial and occurs predominantly in Caucasians.7% in the right upper lobe.9% in each lower lobe •It is more common among males than females. sometimes two lobes. 20. •Result from a check-valve mechanism at the bronchial level that causes progressive hyperinflation of the lung by allowing more air to enter the involved area on inspiration than leaves on expiration •There is no destruction of alveolar walls and is not truly congenital •So.2% in the left upper lobe. 0. 61 .Congenital Lobar Emphysema (NEONATAL LOBAR HYPERINFLATION) •Congenital lobar emphysema is characterized by progressive overdistention of a lobe. 35.3% in the right middle lobe. this is misnomer and has been replaced with term NEONATAL LOBAR HYPERINFLATION •The most commonly affected lobe is the 42.

•Etiology – Not found in up to 50% – Bronchial obstruction found in ~25% Allows collapse on exhalation (ball-valve mechanism) Air trapping leads to alveolar overinflation Intrinsic obstruction (more common) – Intramural: Defect in the bronchial wall Defective quantity or quality of cartilage – Intraluminal: Lesion in the lumen of the bronchus Redundant bronchial folds. older children (type II).•Most patients become symptomatic during the neonatal period. oncologic mass 62 . vascular sling Mass: Lymph node. or incidental finding in asymptomatic patients (type III). bronchogenic cyst. most before 6 months of age •Myers Classification : •Symptomatic in infancy (type I). mucous plugs Extrinsic obstruction – Compression of the bronchus from a lesion outside the bronchial wall Cardiovascular: PDA.

In congenital lobar emphysema. 63 .Presentation – Age • At birth: 33% • By 1 m.: 50% • After 6 m. toward the hilum.o. there are bronchovascular markings within the overdistended lobe.: 5% – Symptoms (in order of decreasing frequency) • Moderate respiratory distress (most) • Cyanosis (half) • Mild respiratory distress (less than half) • Asymptomatic (infrequent) • Severe life-threatening distress (least common) Congenital lobar emphysema may be confused with pneumothorax or with a simple lung cyst or acquired cyst. and the adjacent lobe collapses are either caudad or cephalad but not medial.o.

the emphysematous lobe may be opaque and homogeneous because of fetal lung fluid or it may show a diffuse reticular pattern that represents distended lymphatic channels filled with fetal lung fluid. from alveolar opacification to interstitial reticulation to general hyperlucency. and sometimes ipsilateral and contralateral atelectasis may occur. the affected segment or lobe becomes hyperlucent . triangular density in the apical or supradiaphragmatic region Treatment – Surgical resection • Lobectomy 64 lucency in the right upper lobe (arrows) that displaces mediastinal structures to the left . •The ipsilateral atelectatic lung is seen as a small. •Adjacent lobes and structures may be compressed by the emphysematous lobe.•X Ray during the neonatal period. • As the fluid is absorbed.

•Etiology is uncertain. and recurrent lower respiratory tract infection. 1932 Mounier-Kuhn associated the endoscopic And radiographic appearance of the markedly enlarged airway with recurrent respiratory tract infection •Marked dilatation of the trachea and main bronchi. bronchiectasis.Tracheobronchomegaly (Mounier-Kuhn syndrome) •The condition was first recognized at autopsy by Czyhlarz in 1 897. •Has an autosomal recessive type of inheritance •Predominantly occurs in men in their third and fourth decades of life. Pathologic findings Atrophy or absence of elastic fibers and thinning of muscle of the trachea and central bronchi Rapid change to normal caliber at the 4th-5th order of bronchi 65 . sometimes with tracheal diverticulosis.

CT images of the thorax demonstrate marked dilatation of the trachea (T) and right (R) and left (L) main bronchi in this patient with Mounier-Kuhn syndrome Treatment – Physiotherapy to assist in clearing secretions Appropriate antibiotics during infectious exacerbations 66 .

adrenal tissue . Thyroid and glial tissue can be found occasionally in Lung parenchyma Horse shoe lung Rare congenital malformation in which a isthmus of pulmonary parenchyma extends from right lung base across midline behind the pericardium and joins the posterobasal segments of right and left lungs Associated with scmitar syndrome 67 . hepatic tissue .supplied by branches of pulmonary arterial and venous systems and connected by an airway to tracheobroncheal tree Its differs from extralobar sequestration as it doesn’t have systemic supply Heterotopic Tissue with in lung Heterotopic skeletal muscle .Miscellaneous Bronchopulmonary Anomalies Accessory & Heterotopic Pulmonary Tissue Defined as presence of lung parenchyma over nad above normal complement of lung .

Common variety .Anatomical variants (Normal parenchyma) • Pulmonary isomerism Anomaly of the number of lung lobes. whereas the left has 3. • • Superior segment of lower lobe delineated by separate fissure Medial accessory left lower lobe • Azygos lobe 68 .Right lung has 2 lobes. and/or anomalous pulmonary drainage. May be associated with situs inversus. polysplenia. asplenia.

carrying along pleural layers that entrap a portion of the right upper lobe 69 . It is therefore not a true accessory lobe. fails to migrate over the apex of the lung and penetrates it instead. one of the precursors of the azygos vein. which results from invagination of the azygos vein. but rather a normal variant appearance of the right upper lobe. An azygos lobe is found in 1% of anatomic specimens Embryology An azygos lobe forms when the right posterior cardinal vein.AZYGOS LOBE An azygos lobe is created when a laterally displaced azygos vein makes a deep fissure in the upper part of the lung during development.

g.Conclusion •Although congenital lung malformations are rare. •Keeping in mind these malformations while diagnosing and treating common respiratory problems . they are important disorders because they may lead to considerable morbidity and mortality (e. these patients eventually become adults with their malformation still in place. These features may aid in the differentiation from more sinister abnormalities. •Delineating Adults with malformations is important . as increasing number of children in whom pediatric pulmonologists treat respiratory malformations.Like Infantile lobar hyperinflation can easily be confused with pneumothorax 70 . hemorrhage.. respiratory failure) •Most congenital and developmental anomalies have certain characteristic imaging features. infection.

You never know what inconsistency they're going to catch you in next.Babies are unpredictable. 71 .

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