ISSN 1941-5923

© Am J Case Rep, 2015; 16: 69-72

DOI: 10.12659/AJCR.892385

Received: 2014.09.03
Accepted: 2014.10.28 Unilateral Agenesis of the Lung: A Rare Entity
Published: 2015.02.08

AEF
Authors’ Contribution: Urvinderpal Singh Department of Pulmonary Medicine, Government Medical College, Patiala, Punjab,
EF Study Design  A Daksh Jhim India
Data Collection  B
EF
Statistical Analysis  C Sunil Kumar
EF
Data Interpretation  D Vidhu Mittal
Manuscript
F Preparation  E Navdeep Singh
Literature Search  F
F
Funds Collection  G Hitesh Gour
Muralidharan Ramaraj
F

Corresponding Author: Urvinderpal Singh, e-mail: singhurvinderpal@hotmail.com

Conflict of interest: None declared

Patient: Female, 15
Final Diagnosis: Unilateral agenesis of the lung
Symptoms: Sore throat with dry cough
Medication: —
Clinical Procedure: Cect of the chest and bronchoscopy
Specialty: Pulmonology

Objective: Congenital defects/diseases

Background: Agenesis of the lung, a rare congenital anomaly, arises or develops when there is disruption of evolution of
the primitive lung bud, leading to complete absence of the lung, bronchi, and the main pulmonary artery. With
right-sided agenesis, a variety of cardiac and other congenital malformations are more commonly seen, lead-
ing to a poor prognosis.
Case Report: A young female, aged 15 years, presented with complaints of sore throat and cough. Her x-ray of the chest
showed a homogeneous opacity in the middle and lower zones on the right side with marked shift of the me-
diastinum to the right side. Upon investigation, she was diagnosed with agenesis of the right lung with scoli-
osis, without any other congenital anomaly.
Conclusions: Especially in adults, it requires a high level of good clinical judgement to identify and diagnose this congenital
aberration, as they are often wrongly diagnosed as more common diseases associated with unilateral opaque
hemithorax on x-ray. Hence, when confronted with an opaque hemithorax with shift of the mediastinum to
the affected side in a young person, “agenesis of the lung” should be an important differential diagnosis while
investigating the case.

MeSH Keywords: Agenesis • Congenital Abnormalities • Lung Diseases • Scoliosis

Full-text PDF: http://www.amjcaserep.com/abstract/index/idArt/892385

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 Singh U. et al.:
Unilateral agenesis of the lung: A rare entity
© Am J Case Rep, 2015; 16: 69-72

Background

Agenesis of the lung, a rare congenital aberration, was first ob-

served and described by De Pozze during the autopsy of an adult
woman. It is a failure of development of the primitive lung bud,
and has a prevalence of 34 per million live births [1]. Muhamed,
while doing a medico-legal autopsy, is credited with describing
the first case of agenesis from India [2]. Pulmonary agenesis may
be diagnosed in isolation, but is frequently associated with other
congenital abnormalities, particularly tracheal-esophageal fistu-
la and VACTEL (vertebral, anal, cardiac, trachea-esophageal, and
limb) syndrome [3–5]. Patients with left-sided agenesis, which
is more common, have a longer life expectancy than those with
right-sided agenesis [6]. For unknown reasons, pulmonary agen-
esis of the right side is associated with a higher frequency of
other congenital anomalies than the left side [7]. It is usually di-
agnosed in childhood, but patients with no associated anoma-
lies and minimal or no symptoms may survive into adulthood.

Case Report Figure 1. X-ray chest PA view. A homogeneous opacity in

the right middle and lower zone with shift of the
A 15-year-old female presented with sore throat and cough that mediastinum to the right side along with scoliosis.
began 15 days previously. The cough was dry and hacking, main-
ly due to irritation in the throat. There was no history of fever, to the right and scoliosis with convexity to the left (Figure 1).
wheeze, chest pain, anorexia, or weight loss. On general physical Contrast-enhanced computed tomography (CECT) of the chest
examination, she was of average build and moderately nourished, showed complete absence of the right lung with marked shift
with no pallor, icterus, clubbing, engorged neck veins, or lymph- of the mediastinum to the right side, and the left lung was also
adenopathy. The examination of the abdominal, musculoskeletal, seen herniating to the right side (Figures 2 and 3). The CECT
and neurological systems was unrevealing. Examination of the also showed complete absence of the right pulmonary artery
throat showed enlarged and inflamed tonsils with an inflamed (Figure 4). Fibre-optic bronchoscopy, which was done to visu-
pharynx. On examination her chest was asymmetrical with the ally assess the right bronchus, showed an abrupt ending of the
right side smaller and moving less than the left side. The trachea right main bronchus at the carina (Figure 5). Upon review of the
was deviated to the right side and heart sounds were placed in results, she was diagnosed as agenesis of lung with scoliosis.
the right axillary and inframammary area. On the left side, per- She was treated for the upper respiratory tract infection (URI),
cussion note/sound was resonant and no cardiac dullness could which brought her to us, and eventually led to the diagnosis of
be elicited. On the right side it was resonant in the clavicular area, agenesis of the lung. The patient and her parents have been in-
but impaired from the 4th intercostal space downward anteri- formed about her congenital anomaly and advised to report to
orly and in a scapular line posteriorly. On auscultation, vesicular this institute immediately if she develops any symptoms relat-
breath sounds without any accompaniments were heard on the ed to the respiratory system. She is on regular follow-up visits.
left side and in the clavicular area on the right side. In the rest
of the right lung breath sounds were absent. No heart sounds
could be appreciated in the left hemithorax, while normal rhyth- Discussion
mic heart sounds were best heard in the right inframammary and
axillary area on the right side without any murmurs or any oth- Pulmonary agenesis is a rare malformation usually seen alone
er cardiovascular abnormality. Routine hematological tests, ECG, or in association with other anomalies. Initially classified by
and ultrasonography of the abdomen were essentially normal. Schneider and Schawatbe [8] and later modified by Boyden
Echo color doppler study of the heart was essentially normal, [9] depending upon the stage of development of the primitive
but showed the cardiac activity in the right infra-axillary area. bud, agenesis of the lung is divided into 3 variants.

A radiograph of the chest showed homogeneous opacity in the Type 1 (Agenesis) is complete absence of pulmonary paren-
right middle and lower zone, obliterating both cardio-phrenic chyma and bronchus and absence of the pulmonary artery on
and costophrenic angle with marked shifting of the mediastinum the affected side.

70 This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported License
Singh U. et al.:
Unilateral agenesis of the lung: A rare entity
© Am J Case Rep, 2015; 16: 69-72

Figure 4. CECT of the chest showing complete absence of the

Figure 2. CECT of the chest showing gross shift of the right pulmonary artery.
mediastinum towards the right side.

Figure 3. CECT of the chest showing herniation of the left lung in

the right hemithorax. Figure 5. Bronchoscopic view at the carina showing the right
main bronchus ending in a blind pouch.
Type 2 (Aplasia) is complete absence of pulmonary parenchy-
ma but with a rudimentary bronchus. Of the 2 lungs, the left lung is affected more often, with a
male predominance [13]. Nonetheless, many reports have es-
Type 3 (Hypoplasia) is variable amounts of pulmonary paren- tablished that right-sided agenesis is usually associated with
chyma, bronchi, and supporting vessels are present. other congenital anomalies, mainly cardiac malformations,
and because of these manifold anomalies most patients die
Pulmonary agenesis can occur between the 4th and 5th week within the first year of life [14]. Our patient had agenesis of
of gestation in the embryonic phase, before the pseudoglan- the right side, but aside from scoliosis we could not find any
dular period, when the primitive lungs are forming as a di- other congenital anomaly.
verticulum protruding from the foregut [10]. The exact eti-
ology of this condition is unknown, but genetic factors, viral Patients with agenesis may present with remarkably unpre-
agents, and dietary deficiency of vitamin A during pregnancy dictable symptoms. In infancy this anomaly is usually diag-
are alleged to be responsible [11]. It is hypothesized that ei- nosed because of recurrent chest infections and/or symptoms
ther a simple arrest of development occurs (bilateral agene- traceable to associated congenital anomalies. However, pa-
sis) or there is failure to maintain the developmental balance tients with 1 lung have been known to lead healthy lives into
of the 2 lung buds [12]. adulthood and the oldest patient was 72 years of age when

This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported License 71
 Singh U. et al.:
Unilateral agenesis of the lung: A rare entity
© Am J Case Rep, 2015; 16: 69-72

diagnosed with agenesis, as reported by Oyamada et al. [6]. can be life-threatening and should be treated promptly and
Many patients are recognized incidentally in adulthood on aggressively with antibiotics, bronchodilators, and physiother-
the basis of abnormal chest X-rays ordered for other reasons apy. Asymptomatic cases and patients with minimal symptoms
[15]. Our patient presented with the complaint of sore throat have good prognosis.
and cough, which led to the diagnosis of agenesis of the lung.

The diagnosis of agenesis of the lung is usually suspected from Conclusions

the chest radiograph, which commonly reveals a homogeneous
opacity occupying most of the affected hemithorax and dis- Pulmonary agenesis of the right side, without any other con-
placement of the mediastinal contents into the empty hemitho- genital anomaly, as seen in the present case, is extremely rare.
rax. In our patient the opacity occupied mainly the middle and Diagnosing a developmental anomaly of the lungs in adults is
lower zone on the right side, along with a shift of the medias- challenging for clinicians. By reporting this case, we empha-
tinal contents towards the affected side. Differential diagnosis size that in “young patients presenting with an opaque hemi-
on X-ray include collapse, destroyed lung, post-pneumonectomy, thorax”, an infrequent condition like agenesis of the lung
thickened pleura, and agenesis [16]. Currently, chest CECT, which should be considered in the differential diagnosis while in-
renders comprehensive descriptions of parenchyma, bronchial vestigating the case.
tree, and vasculature, suffices to diagnose agenesis, and invasive
procedures such as pulmonary angiography and bronchography Acknowledgement
are seldom attempted. CECT findings show an opaque hemitho-
rax with a shift of the mediastinum to affected side and herni- We would like to thank Dr Vishal Chopra, Associate Professor
ation of the healthy lung to the affected side, as in our patient. in our institute, for doing the bronchoscopy.
Although not necessary, bronchoscopy, if available, may be per-
formed for visualization of the rudimentary or absent bronchus. Conflict of interest

Regarding management, asymptomatic cases need no inter- The authors declare that there is no conflict of interest, fi-
vention, but prevention of infection in the solitary lung is of nancial or otherwise, related to the publication of this study
paramount importance. Chest infections of the solitary lung or its findings.

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