Introduction

Pulmonary aplasia is a rare congenital pathology in which there is unilateral or bilateral absence of lung tissue. Although similar, it differs from pulmonary agenesis, since in aplasia a closed, short-blind bronchus is present. Aplasia is usually unilateral, as bilateral pulmonary aplasia makes life impossible. It is often associated with other congenital anomalies. Pulmonary hypoplasia is incomplete development of the lungs in an abnormally low number or size of bronchopulmonary segments or alveoli [1-3]. The symptoms appear from no complaints to various respiratory complaints, however, non-specific clinical features act as a barrier to diagnosis [4]. It is detectable before birth, childhood [5], but the literature describes cases discovered in adulthood, even without symptoms [6,7,8], as well as undiagnosed cases discovered during pregnancy [9,10]. Unlike pulmonary hypoplasia which in most cases results from incomplete lung development during prenatal development, pulmonary agenesis and aplasia result from complete developmental arrest of the primitive lung during embryonic life.

Case Report

A 27-year-old woman, is presented in the emergency service of the University Hospital of Lung Diseases “Shefqet Ndroqi” with dry cough, difficulty in breathing, fever 370C for about three months. She is carrying her first pregnancy (12-th week). During this period she had not received medication. In her life, she does not refer to any concomitant diseases, except the frequency of “seasonal flu”. According to the patient and confirmation by an obstetriciangynecologist, the menstrual cycle has been irregular once /3 months. She has been treated with hormone therapy (Clomide) and vitamin therapy and is in the 12th week of pregnancy. She was a lifelong non-smoker, used no illicit drugs, and she is a worker in a hook factory. In the family history does not refer to having had patients with tuberculosis, bronchial asthma or cancer. The patient presents with slightly altered health conditions, conscious, oriented. 

On physical examination: It is seen a ascertained retraction of the left hemithorax, dullness in percussion and diminished vocal fremitus and breath sounds on the left hemi thorax base. Heart with rhythmic tones, without pathological sounds and murmurs, frequency 80 bmp, BP 110/79 mmHg. Abdomen is soft, treatable, not dolent. Liver under the costal arch, spleen is not palpable. Blumberg negative. Pathological lymph nodes are not palpated. Examination of the sensory - motory nervous system without pathological data. Free limbs with normal mobility, without oedema. 

Pulmonary clinical examination suggested the presence of consolidation, atelectasis or pleural effusion: A chest radiography (Figure 1-3) was performed. Chest radiography showed a homogenous density in the lower part of the left hemi thorax with deviation of the trachea and mediastinum to the left. Blood gas analysis at the entrance: pO2 52.0 mmHg, pCO2 31.1 mmHg, pH 7.415, HCO3- 19.5, BE -4.0, SaO2 87.6%. Normal blood tests results. The patient, in this conditions , is hospitalized with the following diagnosis: left pulmonary atelectasis with secondary infection, respiratory insufficiency type I and treated with amoxiclav 1.2 g 2x1fl iv, O2 therapy 1-2 L/min, multivitamin 3x1 tb.

From thoraco-abdominal echo examination is found: the left hemidiaphragm without mobility during respiration; the free phrenico-costal sinuses; left renal agenesis.

ECG: sinusal rythm, P pulmonale, right bundle branch block.

Transthoracic cardiac echo: Very difficult window. Dislocated heart due to pulmonary pathology. The left ventricle is in normal dimensions; no damage to segmental kinetics is observed; systolic function is normal. Thin mitral flaps, with normal movement. Minimal mitral regurgitation. Three sigmoid aortic valve, with normal opening. No transvalvular gradient. Right cameras are difficult to visualize. No tricuspid regurgitation is recorded. No PsAP is recorded. No pericardial effusion.

Thoracic CT was performed to determine the cause of the alleged atelectasis: complete atelectasis of the left lung with short-blind left main bronchus and compensatory hyperinflation of the right lung. Unique right lung with total displacement of the mediastin to the left, as well as hypertrophy and herniation of the right lung tissue left, no pleural fluid, no bone and thoracic wall lesions. Left renal agenesis. Normal aspect of liver, spleen, pancreas and adrenal glands.

Figure 1: Mediastinum displaced to the left. Left-pulmonary field reduction.

Figure 2: CT scan showing complete atelectasis of the left lung with short-blind left main bronchus and compensatory hyperinflation of the right lung.

It is diagnosed with Left pulmonary aplasia, unique right kidney. On discharge from hospital: pH 7.437, pO2 102.1, pCO2 32.6, HCO3- 21.5, BE -1.9, SaO2 97.9%. The patient is recommended to be followed by the family doctor, pulmonologist for the possibility of secondary infections of the lower respiratory tract and the obstetrician. The patient then had several hospitalizations in the maternity ward between 12-30 and 36 weeks. The performance of vital parameters and biochemical examinations has been normal. At 36 weeks dyspnea is amplified and the patient undergoes cesarean delivery with spinal anesthesia. Baby weighing 2,400 at birth, with no organic abnormalities. After one year of birth, she is re-hospitalized with a history of frequent respiratory infections. She complained from time to time of dry cough, shortness of breath, body weakness. In thoracic CT- scan with IV contrast: Total absence of the sinister pulmonary artery; millimeter rudiment of the primary sinister bronchus (about 5x3 mm). Spirometry is performed:FVC 69.4%, FEV1 73.3%, FEV1/FVC 90.95% (moderate restrictive dysventilatory syndrome). 

Figure 3: Thoracic T scan with IV contrast showing total absence of the sinister pulmonary artery; millimeter rudiment of the primary sinister bronchus (about 5x3 mm).

Discussion

In 1673, De Pozze described the first ever case of pulmonary agenesis in a female cadaver, and Muhamed reported the first case of unilateral lung agenesis from India in 1923 in an autopsy. Pulmonary agenesis is a rare congenital anomaly with an incidence between 0.0034% and 0.0097% [11]. Most of these patients with associated anomalies present in childhood and are diagnosed earlier. However, those with only lung aplasia, can remain asymptomatic for several years or can have recurrent lower respiratory tract infections and diagnosis can be delayed due to confusion with other common entities [11].Although the diagnosis is often made during childhood, asymptomatic patients can be diagnosed later due to the absence of comorbid anomalies [8]. It can be isolated or associated with congenital malformations, most often with heart abnormalities. It is a rare congenital anomaly. The main etiology of the disease is unknown while genetic, iatrogenic and viral factors as well as vitamin A deficiency during early pregnancy can result in failure to develop primitive lung germ.