A rare clinical presentation of pulmonary hypoplasia

doi:10.4236/ojped.2011.14018

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Open Journal of Pediatrics, 2011, 1, 75-78

doi:10.4236/ojped.2011.14018 Published Online December 2011 (http://www.SciRP.org/journal/ojped/ OJPed

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Published Online December 2011 in SciRes. http://www.scirp.org/journal/OJPed

A rare clinical presentation of pulmonary hypoplasia

Figen Gülen1, Sakine Kar1, Levent Midyat1*, Esen Demir1, Süphan Özyurt2, Arif Ruhi Özyürek3,

Remziye Tanaç1, Naim Ceylan4

1Department of Pediatric Pulmonology-Allerg y, Faculty of Medicine, Ege University, Izmir, Turkey;

2Department of Pediatric Pulmonology-Allergy, Social Security Tepecik Children’s Hospital, Izmir, Turkey;

3Department of Pediatric Cardiology, Faculty of Medicine, Ege Universi ty, Izmir, Turkey;

4Department of Radiology, Faculty of Medicine, Ege University, Izmir, Turkey.

Email: *[email protected]

Received 7 October 2011; revised 18 November 2011; accepted 24 November 2011.

ABSTRACT

Pulmonary hypoplasia is a rare congenital anomaly,

which is frequently associated with other congenital

anomalies. Clinical symptoms vary depending on the

other system anomalies and severity of pulmonary

hypoplasia. Although it is usually diagnosed in in-

fancy and childhood, some cases do not show any

symptoms until the adolescent ages. In adolescents

and adults with unilateral hypolucent lung, although

it is seen rarely, pulmonary hypoplasia should always

be kept in mind. In this article, we present a case

with pulmonary hypoplasia who remained asympto-

matic until puberty.

Keywords: Lung; Unilateral; Hypoplasia; Adolescent

1. INTRODUCTION

Unilateral pulmonary hypoplasia is a rare congenital

anomaly. Although its exact prevalence is not well

known, it is estimated to be seen in about 1 - 2 out of

every 12.000 births. There is a decrease in number or

size of the airways, vessels and alveoli; however, gross

morphology of the lung is essentially unremarkable [1].

Hypoplastic region of the lung becomes small, fibrotic

and unfunctional as a consequence of developmental

delay in the alveolar tissue. Anomalies may be seen in

several systems, especially in the cardiovascular, gastro-

intestinal, urinary and musculoskeletal systems [2-6].

Depending on the severity of hypoplasia, the patients

may either be asymptomatic or may present with severe

respiratory distress, and the disease usually shows its

symptoms in the neonatal, infancy or childhood period

[1]. In this article, a case report of a patient with this

anomaly is presented who remained asymptomatic until

puberty, which is a rare clinical presentation of pulmo-

nary hypoplasia.

2. CASE REPORT

14-years-old male patient was admitted to our clinic with

complaints of acute respiratory distress, cough, and chest

pain for one day and with presumptive diagnoses of for-

eign body aspiratio n or endobronchial mass, which were

considered upon finding of total volume loss in the left

lung on posteroanterior chest radiograph. It was noted

that medical and family history of the patient was unre-

markable and he was completely asymptomatic for res-

piratory system and other systems until his admission to

the hospital. On physical examination, reduced respira-

tory sounds on the left hemi-thorax, matity on percus-

sion, systolic murmur of 2/6 intensity on the pulmonary

focus was found in the patient as well as scoliosis and

right medial strabismus that was noted to be congenital.

Volume loss in the left lung, compensatory increase in

aeration of the right lung, mediastin al sh ift to the left and

elevation on the left diaphragm was found on pos-

teroanterior chest radiograph of the patient whose rou-

tine hemogram, biochemical results and PPD (purified

protein derivative) test were normal (Figure 1).

On bronchoscopic examination of the patient, no en-

dobronchial lesion was found, and concentric narrowing

of the left main bronchus and the left lower bronchus

was observed. His respiratory function test showed re-

strictive and reversible obstructive p attern. The left main

pulmonary artery and the left lung was hypoplastic on

thoracic high-resolution computed tomography (CT)

examination. Hypoplasia was found on the left main

pulmonary artery also on thoracic CT and magnetic

resonance (MR) angiographic examinations of the pa-

tient whose GI (gastrointestinal) barium X-ray which

was taken to investigate congen ital diaphragmatic hernia

was normal (Figure 2). Cardiac catheterization of the

patient revealed that the left main pulmonary artery was

hypoplastic and he had no additional cardiac anomaly. It

was decided to give the patient symptomatic treatment

F. Gülen et al. / Open Journal of Pediatrics 1 (2011) 75-78

Figure 1. Hypoplasia of the left lung, compensatory increase

in aeration of the right, mediastinal shift to the left, and eleva-

tion on the left diaphragm on posteroanterior chest radiograph.

and reevaluate him for operation in the case of worsen-

ing symptoms. The patient was discharged with long-

acting beta-2 agon ist treatmen t.

3. DISCUSSION

Pulmonary hypoplasia is characterized by reduced

and/or less developed lung tissue to varying degrees [7-

10]. When pathologic specimens of the patients with

pulmonary hypoplasia were examined, it was found that

ratio of lung weight/body weight of the patients was less

than 0.012 [11]. Development of bronchial tree occurs in

26th to 31st days of intrauterine life. Monaldi catego-

rizes developmental disorders of the lung to four catego-

ries [12]. Group I: No bifurcation of trachea; Group II:

Only rudimentary main bronchus; Group III: Uncom-

pleted development after bifurcation of the main bron-

chus; Group IV: Incomplete development of small seg-

ment and subsegmental bronchi of the corresponding

lobe. According to Boyden, developmental disorders are

seen in three different extents [13]: 1) agenesis (com-

plete absence of the lung tissue), 2) aplasia (no lung tis-

sue, but there is a rudimentary bronchus), 3) hypoplasia

(all lung tissues exist but under-developed). The patient

presented in this article is in g roup IV according to Mon-

igure 2. Hypoplasia of the left pulmonary artery and left lung on thorac ic comp uted tomographic angiography.

F. Gülen et al. / Open Journal of Pediatrics 1 (2011) 75-78 77

aldi classification and is of third degree according to

Boyden.

There are primary (idiopathic) and secondary causes

in the etiology of the pulmonary hypoplasia. It usually

occurs secondary to the intrauterine diseases impairing

normal lung development. Deformities of the chest wall,

pleural effusion associated with hydrops fetalis, cystic

adenomatoid malformation, and diaphragmatic hernia

physically limits the development of the lung. Further-

more, conditions leading to oligohydramnios such as

early rupture of the membranes or fetal renal insuffi-

ciency also impair development of the lungs [1]. Hy-

poplasia may be bilateral in thoracic dystrophies and

oligohydramnios. In such cases, development of the air-

ways and arterial truncation is inhibited and th u s, surface

area required for alveolo-capillary gas exchange be-

comes limited [1,7].

Isolated pulmonary hypoplasia is rare; it is generally

accompanied by anomalies in other systems, especially

in the cardiovascular, gastrointestinal, musculoskeletal

and urogenital systems. Severity of the clinical symp-

toms and timing of their occurrence is related to the de-

gree of hypoplasia [14]. It usually presents with respira-

tory distress or pulmonary hypertension in the newborn

period. Respiratory distress in the first five minutes fol-

lowing birth is typical for these patients, and they usu-

ally require mechanical ventilation. Apgar scores are

usually found to be lower, although babies with com-

pletely normal Apgar scores may also be seen [11,

15-19]. However, as in our patient, patients who remain

asymptomatic until pub erty have also be en reported [7,9 ,

10]. Total atelectasia, pleural effusion, pneumonia, dia-

phragmatic elevation, diaphragmatic hernia, pulmonary

aplasia, and pneumonectomy should be considered in

differential diagnosis of these patients. Postero-anterior

chest radiograph, thoracic CT, CT angiography, MR an-

giography and bronchoscopy may be used for diagnosis

[14]. Some pathologists suggested that radial alveolar

counting (RAC) might be used for confirming the diag-

nosis of hypoplasia [20]. In this method, number of the

alveoli taken from a region between the respiratory

bronchiole and the closest connective tissue is compared

to a normal control sample in the same laboratory. This

rate was found to be reduced in two published studies

[11,15,21-24], although another study did not support

this assumption [18].

Life-span of the patients depends on severity of

anomalies of other systems and degree of the pulmonary

hypoplasia [1]. Mortality has been reported to be high

(71% - 95%) especially in those cases manifesting in the

newborn period [11,25]. Membrane rupture earlier than

25th week of the gestation, presence of severe oligohy-

dramnios (amniotic fluid index < 4) for more than 2

weeks, and preterm labor have been reported to be con-

ditions increasing mortality [25]. Some prenatal inter-

ventions may be attempted to increase fetal lung capac-

ity or to provide lung development, depending on the

underlying etiologic reason. Tocolitics for early mem-

brane rupture, antibiotics, steroids, use of fibrin glue to

correct the lesion transcervically, and consecutive use of

amnio-infusions are methods used currently in several

centers and of which benefits have been reported in

some references [25]. Additionally, other methods in the

postnatal period include mechanical ventilation, provid-

ing ECMO (extracorporeal membrane oxygenation) and

surfactant support, and early initiation of dialysis to

support renal function. No method with proven efficacy

has been found although some surgical techniques are

being tried [25].

Unilateral hypoplasia is a congenital ano maly causing

a wide spectrum of clinical manifestations from mild,

non-specific findings to severe respiratory symptoms.

Our case was presented with nonspecific findings, who

remained asymptomatic until puberty, which is a rare

clinical presentation of pulmonary hypoplasia. In pa-

tients with unilateral hypolucen t lung, although it is seen

rarely, pulmonary hypoplasia should always be kept in

mind.

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