Congenital lobar emphysema

Author:
Christopher M Oermann, MD
Literature review current through: Feb 2019. | This topic last updated: Aug 28, 2017.

INTRODUCTION Congenital lobar emphysema (CLE), also known as

congenital alveolar overdistension, is a developmental anomaly of the lower

respiratory tract that is characterized by hyperinflation of one or more of the
pulmonary lobes [1,2]. Other terms for CLE include congenital lobar overinflation and
infantile lobar emphysema [3-5].

EPIDEMIOLOGY Congenital lobar emphysema (CLE) is a rare congenital

malformation with a prevalence of 1 in 20,000 to 1 in 30,000 [6]. CLE was diagnosed

in 10 of 70 patients with congenital malformations of the lung seen from 1970 to 1995
at Children's National Medical Center in Washington, DC [7]. Depending upon the
pattern of referrals, other tertiary medical centers may treat one or two cases per
year [3,8].

Males appear to be affected more than females, in a ratio of 3:1 [1]. The reason for
the male predominance is unknown [1,3,5].

PATHOGENESIS Progressive lobar hyperinflation is likely the final

common pathway that results from a variety of disruptions in bronchopulmonary

development. These result from abnormal interactions between embryonic
endodermal and mesodermal components of the lung. Disturbances may lead to
changes in the number of airways or alveoli or alveolar size [9]. However, a definitive
causative agent cannot be identified in approximately 50 percent of cases [10].

The most frequently identified cause of congenital lobar emphysema (CLE) is

obstruction of the developing airway, which occurs in 25 percent of cases [1]. Airway
obstruction can be intrinsic or extrinsic, with the former more common. This leads to
the creation of a "ball-valve" mechanism in which a greater volume of air enters the
affected lobe during inspiration than leaves during expiration, producing air trapping.

Intrinsic obstruction often is caused by defects in the bronchial wall, such as

deficiency of bronchial cartilage. This results in airway collapse during expiration.
Intraluminal obstruction caused by meconium or mucous plugs, granulomas, or
mucosal folds can cause partial obstruction of a lower airway. Extrinsic compression
may be caused by vascular anomalies, such as a pulmonary artery sling or
anomalous pulmonary venous return, or intrathoracic masses, such as foregut cysts
and teratomas. Additionally, bronchial atresia has been identified as a common
finding in CLE and other congenital cystic pulmonary malformations [11].
 PATHOLOGY Congenital lobar emphysema (CLE) is characterized by

overdistention of one or more lobes of the lung [12]. This leads to compression of the
remaining lung tissue and herniation of the affected lobe across the anterior
mediastinum into the opposite chest, causing displacement of the mediastinum.

The different pulmonary lobes are variably affected by CLE. The left upper lobe is
affected most often (40 to 50 percent of cases) [1,3,13,14]. The distribution in right
middle, right upper, and lower lobes is 25 to 35, 20, and 2 to 10 percent, respectively.
CLE affecting multiple lobes is rare.

Gross inspection of tissue specimens typically demonstrates hyperexpansion of the

affected lobe with parenchymal pallor (picture 1). Histologic findings are variable [3].
They range from simple, uniformly enlarged distal airways and airspaces (picture 2)
to a polyalveolar form. In the latter, the conducting airways are normal in size and
number, but the alveoli within the gas exchange units are enlarged and increased in
number. True emphysematous changes are lacking in both types, leading some
experts to use the term congenital lobar overinflation, rather than emphysema.
Abnormal cartilage, granulation tissue, mucosal folds, or other anomalies
occasionally are detected.

CLINICAL FEATURES Affected infants usually are symptomatic in the

neonatal period. Approximately 25 to 33 percent of cases present at birth, 50 percent

by one month of age, and nearly all by six months of age [1,3].

Progressive respiratory distress develops rapidly in some infants, while others have a
more gradual, insidious onset [1,3-5,7,8,15,16], and some may remain asymptomatic
for years [17,18]. The severity depends upon the size of the affected lobe, the
compression of surrounding lung tissue, and the extent of mediastinal shift.

Infants typically have tachypnea and increased work of breathing, and often have
cyanosis [1,3,4,7,8]. Recurrent pneumonia or poor feeding with failure to thrive are
less frequent presentations that may occur in milder forms.

Physical examination reveals respiratory distress that often is accompanied by

wheezing caused by airway compression. Breath sounds are decreased over the
involved lobe, which is hyperresonant to percussion. Depending upon the extent of
mediastinal shift, the cardiac point of maximal impulse may be displaced.

Other congenital anomalies often accompany congenital lobar emphysema (CLE)

and may be apparent on examination. Cardiovascular anomalies are present in 14
percent of cases [1]. Renal, gastrointestinal, musculoskeletal, and cutaneous
disorders also may occur.
 DIAGNOSIS The diagnosis of congenital lobar emphysema (CLE) often can

be made from its characteristic appearance on a chest radiograph (image 1) [5,16].

The chest film typically demonstrates distension of the affected lobe and mediastinal
shift, with compression and atelectasis of the contralateral lung. The diaphragm often
appears flattened because of hyperinflation.

If the chest radiograph is obtained immediately after birth, the affected lobe may
appear opacified due to retained fetal lung fluid. As the fluid is absorbed and the lobe
becomes filled with air, progressive hyperinflation develops.

Computed tomography (CT) of the chest or magnetic resonance imaging may help
establish the diagnosis of CLE in atypical cases and may demonstrate an intrinsic or
extrinsic source of airway obstruction [16,19,20]. Studies with contrast may also
demonstrate vascular causes of airway compression and resultant emphysematous
changes. Alternatively, echocardiography may identify vascular structures causing
airway compression.

CT may establish a diagnosis of CLE in some infants with persistent respiratory

distress and a nondiagnostic chest radiograph [21]. It also is helpful to define cystic
pulmonary lesions detected by prenatal ultrasonography [10]. Rarely, CT findings are
nondiagnostic and definitive diagnosis is possible only on histologic evaluation [22].

Ventilation/perfusion lung scans demonstrate decreased ventilation and perfusion in

the affected lobe [1]. However, they usually are not necessary for the diagnosis of
CLE. Bronchoscopy also is usually not necessary for diagnosis, but may identify a
source of airway obstruction.

The radiographic appearance of congenital lobar emphysema and other

developmental anomalies of the lung is discussed in detail separately.
(See "Radiographic appearance of developmental anomalies of the lung".)

Prenatal diagnosis — CLE sometimes is detected by prenatal ultrasonography.

Lung lesions have increased echogenicity and/or a cystic appearance, and usually
can be differentiated from other congenital lung lesions [23,24]. CLE lesions may
decrease in size during pregnancy, similar to other lesions, such as congenital
pulmonary airway malformation (CPAM; previously known as congenital cystic
adenomatoid malformation, CCAM) or bronchopulmonary sequestration (BPS)
[10,23]. A chest mass may even disappear on prenatal ultrasound and become
apparent again on postnatal evaluation [25]. Predictors of severe respiratory distress
or mortality include polyhydramnios, fetal hydrops, and lung to thorax transverse area
ratio (L/T value) of less than 0.25 [26].

Differential diagnosis — The radiographic appearance of hyperlucency of the lung

can be caused by a reduction in pulmonary blood flow, or by a hyperinflation process
with normal or reduced pulmonary blood flow. Thus, CLE can mimic a variety of
congenital and acquired disorders [27,28]:
●Pneumothorax or localized pulmonary interstitial emphysema (PIE) – Localized
PIE typically develops in infants who are mechanically ventilated at high airway
pressures. Definitive diagnosis prevents potential complications related to
unnecessary interventions such as tube thoracostomy [29]. The emphysematous
lobe in CLE usually has linear bronchovascular and alveolar markings, while
these markings are absent in pneumothorax. (See "Pulmonary air leak in the
newborn".)
●Localized pulmonary hyperinflation – This can be caused by obstruction of the
airway by a foreign body, congenital bronchial atresia, or by a mass such as a
bronchogenic cyst or a pulmonary artery sling (anomalous origin of the left
pulmonary artery). (See "Airway foreign bodies in children" and "Congenital
anomalies of the intrathoracic airways and tracheoesophageal fistula".)
●Space-occupying chest lesions – Space-occupying lesions usually are easily
distinguished from CLE by the radiographic findings. These include congenital
pulmonary airway malformation (CPAM), bronchopulmonary sequestration
(BPS), and congenital diaphragmatic hernia. (See "Bronchopulmonary
sequestration" and "Congenital pulmonary airway (cystic adenomatoid)
malformation".)
●Pulmonary growth abnormalities – Pulmonary growth abnormalities including
agenesis of the pulmonary vasculature and agenesis of a lung can mimic CLE by
causing hyperinflation of the contralateral lung. (See "Radiographic appearance
of developmental anomalies of the lung", section on 'Agenesis'.)
●Swyer-James-McLeod syndrome (SJM), also known as unilateral hyperlucent
lung syndrome, is an uncommon disease that results in decreased pulmonary
vascularity and hyperinflation that may be confined to one lung or one lobe, with
or without bronchiectasis [30]. SJM is now thought to be a postinfective form of
bronchiolitis obliterans. Infections with adenovirus, measles, Bordetella
pertussis, tuberculosis, mycoplasma pneumoniae, respiratory syncytial virus,
and influenza A have been implicated [31-33]. CLE and other developmental
pulmonary anomalies such as unilateral pulmonary artery agenesis may mimic
the findings of SJM on plain radiograph, but are distinct entities [34]. These
disorders usually can be distinguished from SJM by further evaluation with
CT and/or ventilation and perfusion (V/Q)scanning.
In contrast to CLE, many patients with SJM are asymptomatic and only
diagnosed when chest radiographs are obtained for other indications. Airflow
obstruction is generally present on pulmonary function testing, and V/Q scanning
often reveals a matched ventilation and perfusion defect of the affected lung
[34,35]. In SJM, the affected lung typically has normal to small lung size,
whereas in CLE the affected lobe is expanded. Complications of SJM include
recurrent infection in areas of bronchiectasis, lung abscess, and spontaneous
pneumothorax [36,37]. Treatment is generally conservative, but pneumonectomy
can be considered in patients with severe bronchiectasis complicated by
recurrent infections [32,33,38].
●Poland syndrome – Poland syndrome is a constellation of congenital anomalies
that include hypogenesis of the muscles of the anterior chest wall and breast
tissue. This can lead to a unilateral hypolucency of the chest radiograph, which
is differentiated from intrathoracic causes of hypolucency by chest CT [27].
(See "Chest wall diseases and restrictive physiology", section on 'Poland
syndrome'.)
 TREATMENT The management of CLE depends on whether symptoms are

present. The vast majority of lesions are symptomatic and require early resection. For
asymptomatic patients, conservative management usually is appropriate because
they are unlikely to develop complications. By contrast, the management of
asymptomatic patients with other types of congenital abnormalities of the lower
airway is controversial, with arguments made for and against surgical resection
[39,40]. This is because these other lesions may be associated with risks for infection
or malignancy, which is not the case in CLE. (See "Congenital pulmonary airway
(cystic adenomatoid) malformation", section on 'Asymptomatic patients'.)

Symptomatic patients — The appropriate treatment of congenital lobar emphysema

(CLE) in newborns with respiratory distress is surgical resection of the affected lobe
[41-44]. Historically, this was done by open thoracotomy, but minimally invasive
techniques are now often used for resection of these lesions, resulting in decreased
morbidity [45]. Case series show good outcomes for symptomatic patients managed
with surgery [15,46,47]. In long-term follow-up, patients treated with surgery may
have generalized overinflation on chest radiography and pulmonary function
abnormalities that are proportional to the volume of lung that was excised; wheezing
is the most common clinical symptom [47,48].

Asymptomatic patients — Conservative management is reasonable in infants and

older children who have no or minimal symptoms [49], although some infants who are
asymptomatic at birth may develop progressive respiratory symptoms over time,
which may require surgical management. The conservative approach for infants and
older children with mild symptoms is supported by a small number of case series that
demonstrated clinical, and sometimes radiological, improvement in patients treated
conservatively and similar long-term outcomes in mildly symptomatic patients treated
surgically or conservatively, as illustrated by the following observations:
●In a report of 30 children with CLE diagnosed over a 27-year period, 9 were
followed conservatively [46]. The duration of follow-up ranged from 1 month to
17 years and all patients demonstrated decreased hyperexpansion of the
affected lobe.
●In a report of 20 children (0 to 17 years) with CLE who were treated at a single
institution between 1995 and 2002, eight were identified antenatally [18]. Among
the 11 patients who were symptomatic at presentation, six with mild symptoms
were managed conservatively and showed spontaneous
clinical and/or radiological improvement during follow-up ranging from six months
to eight years.
●A report of 14 children (25 days to 2.5 years) with CLE who were treated at a
single institution between 1991 and 1998 included four children who had mild
symptoms and presented at an older age, who were followed conservatively [15].
These children became asymptomatic during the follow-up period of three
months to four years, although radiographic abnormalities persisted.
●In a study from 1976, outcomes at an average age of 10 years were similar in
six patients with CLE who were treated surgically and five who were managed
conservatively [47]. Patients who were managed conservatively had no or
minimal symptoms in the neonatal period, and all were asymptomatic at follow-
up. Chest radiographs showed localized overinflation of the affected lobe and
 minimal compression of the remaining lung parenchyma. They had decreased
forced vital capacity, large trapped gas volume, and reduced forced expiratory
flows at low lung volumes that were proportional to the unventilated volumes of
lung that were chronically obstructed, and are similar to the pulmonary function
abnormalities in patients treated with surgery.

SUMMARY AND RECOMMENDATIONS

●Congenital lobar emphysema (CLE), also known as congenital alveolar

overdistension, is a developmental anomaly of the lower respiratory tract that is
characterized by hyperinflation of one or more of the pulmonary lobes. Some
cases are attributable to obstruction of the developing airway, which leads to air-
trapping. Many infants have associated anomalies, particularly of the
cardiovascular system. (See 'Pathogenesis' above.)
●Hyperinflation of one or more lobes of the lung leads to compression of the
remaining lung tissue and herniation of the affected lobe across the anterior
mediastinum into the opposite chest, causing displacement of the mediastinum.
(See 'Pathology' above.)
●Approximately 25 percent of cases present at birth, 50 percent by one month of
age, and nearly all by six months of age. Infants typically have tachypnea and
increased work of breathing, and often have cyanosis. Recurrent pneumonia or
poor feeding with failure to thrive are less frequent presentations that may occur
in milder forms. (See 'Clinical features' above.)
●The diagnosis of CLE often can be made from its characteristic appearance on
a chest radiograph (image 1). The chest film typically demonstrates distension of
the affected lobe and mediastinal shift, with compression and atelectasis of the
contralateral lung. Some cases are detected by prenatal ultrasonography.
(See 'Diagnosis' above.)
●The radiographic appearance of CLE should be differentiated from
pneumothorax or localized pulmonary interstitial emphysema (PIE, or pulmonary
air leak), which typically develops in mechanically ventilated infants. The
differential diagnosis includes other space-occupying lesions such as congenital
pulmonary airway malformation (CPAM), bronchopulmonary sequestration
(BPS), bronchogenic cyst, congenital diaphragmatic hernia, and Swyer-James-
McLeod syndrome (unilateral hyperlucent lung syndrome). (See 'Differential
diagnosis' above.)
●Treatment of CLE in newborns with respiratory distress consists of surgical
resection of the affected lobe. Conservative management is reasonable in
infants and older children who have no or minimal symptoms. Some infants who
are asymptomatic at birth may also develop progressive respiratory symptoms
over time which may require surgical management. (See 'Treatment' above.)
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