Diagnosis and reasoning

This neonate has presented with acute respiratory distress and an oxygen saturation
of 92%; the first priority should be stabilization via high-flow oxygen and
propping him up, followed by careful monitoring.

Given the history of a recent upper respiratory tract infection in a sibling,

bronchiolitis and pneumonia are the most likely candidates for the causative
etiology.

However, when dealing with dyspnea in this age group, there are a few other
uncommon but important conditions which should be kept in the back of one's mind -
these include pneumothorax, congenital diaphragmatic hernias and congenital lung
malformations.

Examination shows marked subcostal recessions bilaterally, which is a feature of

respiratory distress.

Note also the presence of diminished breath sounds in the left side - this hints
that the pathology is likely in the ipsilateral lung. Unfortunately, tracheal
deviation is extremely tricky to assess in neonates - in older individuals, this
can provide additional information helpful in localizing the lesion.

There are no crackles or wheezes in the lung fields, which makes both bronchiolitis
and pneumonia less likely; however, note that this does not definitively exclude
these diagnoses.

A chest x-ray is a good investigation at this point; this reveals a surprising

finding: a grossly inflated left upper lobe displacing the mediastinum towards the
opposite side, and apparently compressing the right upper lobe.

This peculiar appearance is highly suggestive of congenital lobar emphysema (CLE),

a rare condition where there is hyperinflation of one or more pulmonary lobes.

However, note that localized pulmonary interstitial emphysema can also mimic these
findings, as can pneumothorax.

Thus a follow up CT scan of the thorax is essential; this confirms the presence of
hyperinflation of the left upper lobe.

An echocardiogram is also important in these patients, as up to 14% of children

with CLE have associated cardiovascular abnormalities. Fortunately, the test
findings are normal here.

Surgical resection of the affected lobe will provide definitive cure; this should
be performed as soon as possible as this is a severe presentation of CLE.

While many pediatric units have a policy of administering IV antibiotics

empirically as soon as a pneumonia is suspected, it is important to note that there
are no clinical findings which would justify this in the current patient under
consideration.

Discussion
Congenital lobar emphysema (CLE), also known as infantile lobar hyperinflation or
over-inflation, is a rare developmental anomaly of the lower respiratory tract,
characterized by hyperinflation of one or more of the pulmonary lobes.

The incidence ranges from 1 in 20,000 births to 1 in 30,000 births, with a

male:female ratio of 3:1.
In many cases, the underlying pathophysiology is unclear. However, in around one-
quarter of all cases, obstruction of the developing airway via a "ball-valve"
mechanism is believed to play a role; the resultant progressive air trapping
results in hyperinflation of the affected lobe and a mass effect that compresses
the remaining lobes and causes a mediastinal shift, with subsequent hemodynamic
changes.

Know obstructive causes include 'intrinsic' disorders of the lung such as

developmental deficiency of bronchial cartilage, or 'extrinsic' causes such as
vascular anomalies or intrathoracic masses.

The left upper lobe is most often affected (40% to 50% of cases); this is followed
by the left middle lobe (30% to 40%) and right upper lobe (upto 20%). Note that CLE
usually affects only a single lobe.

One third of all patients are symptomatic at birth, 50% are diagnosed in the first
month of life and nearly all by six months of age; however, note that the rare
patient can remain asymptomatic for years.

The spectrum of symptoms may range from complete asymptomaticity, to severe

respiratory distress and cyanosis.

The severity depends upon the size of the affected lobe, the degree of compression
of surrounding lung tissue, and the extent of mediastinal shift.

Respiratory distress is the commonest mode of presentation; most present with

moderate dyspnea in the first days of life, which may associated with wheezing,
grunting respiration and tachypnea. This may progress on to cyanosis within days.

Recurrent pneumonia and failure to thrive are less frequent presentations that may
occur in milder forms of the disease.

Physical examination typically reveals decreased breath sounds over the involved
lobe. The cardiac apex may be displaced if marked mediastinal shift is present.

In many cases, the diagnosis of CLE can often be made from its characteristic
appearance on a chest radiograph. Classical findings are a hyperinflated lobe
compressing neighbouring lobes and herniating across the anterior mediastinum to
cause mediastinal shift.

A CT chest is also essential, as this allows evaluation of bronchial obstructions

and anatomical changes, thereby defining the limits of the affected lobe and
indicating the location of its blood vessels (which is mandatory prior to surgery).

Note that bronchoscopy, angiopulmography, ventilation/perfusion lung scans and

barium esophagography may also be performed, but are usually not required.

As 14% of children with CLE have associated cardiovascular abnormalities,

echocardiography should also be performed once the diagnosis has been established.

It is also possible to diagnose CLE in the antenatal period via fetal screening and
obstetric monitoring with ultrasonography; the disease can be distinguished from
other lesions by differences in echogenicity and reflectivity.

Studies have concluded that surgical resection of the affected lobe is appropriate
in all infants less than 2 months of age and in those over 2 months with severe
respiratory distress, significant findings on CXR or abnormal bronchoscopy
findings.
Asymptomatic, or minimally symptomatic patients can be managed conservatively.

In over 85% of cases, the long term outcome after surgery is excellent with
complete cure; following surgery resolution of symptoms usually occurs within 48
hours.

Take home messages:

1. Congenital lung lesions can present for the first time outside the perinatal
period, in infancy, childhood or even in adulthood.
2. The diagnosis of CLE often can be made from its characteristic appearance on a
chest radiograph.
3. Patients with CLE should be assessed for associated cardiac anomalies.
4. The outcome of surgery is good in most cases.

References
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Lobar Emphysema: Divya Chandran-Mahaldar, Subbaih Kumar, Kathamuthu Balamurugan,
Arani R Raghuram, Rammaih Krishnan, Kannan.
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