Challenges in multidisciplinary medical rehabilitation - Swyer-James-MacLeod Syndrome: case presentation and short literature review

Challenges in multidisciplinary medical rehabilitation - Swyer-James-MacLeod Syndrome: case presentation and short literature review ANTON Adelina¹, GHERGHISAN Ioana Sinziana2, OMER (Gheorghe) Angela1, IONESCU Elena Valentina3,4, ILIESCU Madalina Gabriela3,4, BAZ Radu5 Corresponding author: Ioana Sinziana Gherghisan, E-mail: Balneo Research Journal DOI: http://dx.doi.org/10.12680/balneo.2019.281 Vol.10, No.4, December 2019 p: 457–461 1 Department of Pulmonology and Internal Medicine, County Clinical Hospital of Constanta, Romania 2 Department of Pulmonology, Clinical Pulmonology Hospital of Constanta, Romania 3 Department of Medical Rehabilitation, Faculty of Medicine, Ovidius University of Constanta, Romania 4 Romania Balneal and Rehabilitation Sanatorium of Techirghiol, Romania 5 Department of Radiology, Faculty of Medicine, Ovidius University of Constanta, Romania Abstract Introduction. Swyer-James-MacLeod syndrome (SJMS) or unilateral hyperlucent lung syndrome is a rare disorder caused by infectious bronchiolitis obliterans and pneumonitis occurring in childhood. It is characterized by hypoplasia and/or agenesis of the pulmonary arteries resulting in pulmonary parenchyma hypoperfusion. Materials and methods. We report the case of a 27 years-old female patient who presented with progressive dyspnea, productive cough, fever and chills. Results and discussion. Chest radiography showed unilateral loss of left lung volume with hyperlucency. Unilateral reduction in vascularity with reduced caliber of the left pulmonary artery was revealed on CT scan of the chest, final diagnosis of SJMS being confirmed by angiography. Conclusions. This case strongly supports the recommendation of considering SJMS within the differential diagnosis workup of bronchiectasis, the syndrome being usually underdiagnosed. Key words: pulmonary, rehabilitation, multidisciplinary, Introduction Swyer-James-MacLeod syndrome is a rare entity characterized by hypoplasia and/or agenesis of the pulmonary arteries resulting in pulmonary parenchyma hypoperfusion. It is considered an acquired disease secondary to viral bronchiolitis and pneumonitis during childhood and is etiologically associated with viruses, atypical germs or Mycobacterium tuberculosis (1-4). Its incidence was 0.01% in an X-ray study conducted on 17450 patients (5,6). SJMS was firstly described in 1953 by Swyer and James, by documenting the case of a child with unilateral hypertransparent lung without atelectasis (7). One year later, MacLeod published nine similar cases (8).The aim of the paper is to describe the clinical and paraclinical features of one patient with Swyer-James-MacLeod syndrome and to do a short literature review on the topic. Material and methods A twenty-seven year old female patient, Caucasian, nonsmoker, presented to the Emergency Department of our hospital for a ten-day history of progressive dyspnea, productive cough, fever (390C) and chills. Empiric antibiotic therapy was prescribed with progressive worsening of her symptoms. For a comprehensive examination, the patient was hospitalized in the Internal Medicine Department, stating no significant family medical history. She disclosed recurrent episodes of pulmonary infections during childhood and adolescence, which were treated with antibiotics and bronchodilators. Results The physical examination was unremarkable, except lung auscultation, which revealed crackles on the left side. The complete blood count showed leukocytosis (14720 cells/µl). The patient tested negative for alpha1-antitrypsin deficiency and sweat chloride test, whereas serum immunoglobulins levels were within normal limits. Sputum cultures were positive for Citrobacter spp. Pulmonary function tests suggested relevant irreversible moderate obstructive disease: post-bronchodilator values of forced expiratory volume in one second (FEV1) forced vital capacity (FVC) and FEV1/FVC ratio were: 44%, 63% and 60% respectively. The chest radiography showed small left lung and apical lucency area in the left lung. Thoracic computed 457 tomography (CT) scans revealed a small, hyperlucent left lung with cystic bronchiectasis, compensatory hyperinflation of the right lung and reduced caliber of the left pulmonary artery (figure 1). The CT angiography confirmed diffuse hypoplasia of the left pulmonary artery (figure 2). Patient management included bronchodilators, targeted antibiotics and expectorants. Seven days later, due to symptomatic improvement under current treatment, the patient was discharged with recommendations of regular follow-ups and influenza and pneumococcal vaccinations. Discussions Swyer-James-MacLeod syndrome is a rare lung disease, also known as “unilateral translucent lung” or “unilateral emphysema”. The hallmark of the syndrome is pulmonary arteries’ hypoplasia and/or agenesis, resulting in pulmonary parenchyma hypoperfusion, with characteristic radiological pattern translucent or hyperlucent unilateral lung (6). SJMS is an acquired illness secondary to childhood infectious bronchiolitis and pneumonitis, which are important clues, when found during anamnesis. Possible etiology may include viruses (Paramyxovirus, Morbillivirus, Influenza A, Adenovirus types 3, 7 and 21), atypical germs (Bordetella pertussis, Mycoplasma pneumoniae) and Mycobacterium tuberculosis (MTB) (5, 9). Infection with MTB is still very common in our country, overlapping with other rare conditions (10) and resulting in tuberculosis active disease in immunosuppressive conditions (11-14). Repeated infection causes an inflammatory reaction with consecutive obliteration of the peripheral airways and of the vessels, affecting the development of the organ. The affected lung becomes smaller than the healthy one, destruction of the alveolar walls leading to bronchiectasis and emphysema (5, 9). Unlike the majority of respiratory diseases, in which tobacco use or environmental exposures represent the most important risk factors (15-19), SJMS is not usually associated with smoking. Only the clinical assessment of smokers is not enough, but adding a biological evaluation will give the great picture of the problem (20). Patients with SJMS are either asymptomatic, or, more frequently, they present non-specific respiratory symptoms (hemoptysis, dyspnea, chest pain, chronic cough, wheezing) which are commonly present in many other respiratory conditions (18). SJMS may also associate recurrent respiratory infections. Physical examination is nonspecific: decreased chest expansion, wheezing, bronchial rales, crackles, hyper resonance (9, 21). Respiratory function tests (RFTs) usually reveal a mild to moderate obstructive pattern: decreased FEV1/FVC ratio, decreased FEV1, bronchial hyper responsiveness, decreased DLCO, severe airtrapping, increased RV/TLC ratio (residual volume/total lung capacity), and normal/slightly decreased lung volume. Frequently, these patients are misdiagnosed with chronic obstructive diseases such as as (...truncated)