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 Table of Contents  
Year : 2022  |  Volume : 5  |  Issue : 2  |  Page : 80-82

Kartagener's syndrome presenting with secondary spontaneous pneumothorax: A rare case report

Department of Respiratory Medicine, Velammal Medical College Hospital and Research Institute, Madurai, Tamil Nadu, India

Date of Submission06-Sep-2022
Date of Decision03-Oct-2022
Date of Acceptance09-Oct-2022
Date of Web Publication23-Dec-2022

Correspondence Address:
Dr. R Anand
Department of Respiratory Medicine, Velammal Medical College Hospital and Research Institute, Madurai - Tuticorin Ring Road, Anuppanadi, Madurai - 625 009, Tamil Nadu
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/japt.japt_31_22

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Kartagener's syndrome (KS) is a part of a larger family of diseases classified as primary ciliary dyskinesia (PCD). The triad of KS consists of bronchiectasis, chronic sinusitis, and situs inversus, which is likely underdiagnosed, as a limited amount of centers have resources to provide an accurate diagnosis. Symptoms are more prevalent in children that too in the first decade of life. Pneumothorax might be one of the rare complications of the PCD. A review of literature revealed that few patients are diagnosed with PCD complicated with secondary spontaneous pneumothorax. In this case report, we describe a PCD patient with spontaneous pneumothorax and how we treated him in our institution.

Keywords: Kartagener, pneumothorax, situs inversus

How to cite this article:
Prabhakar N, Anand R, Ramesh P. Kartagener's syndrome presenting with secondary spontaneous pneumothorax: A rare case report. J Assoc Pulmonologist Tamilnadu 2022;5:80-2

How to cite this URL:
Prabhakar N, Anand R, Ramesh P. Kartagener's syndrome presenting with secondary spontaneous pneumothorax: A rare case report. J Assoc Pulmonologist Tamilnadu [serial online] 2022 [cited 2023 Jan 27];5:80-2. Available from: http://www.japt.com/text.asp?2022/5/2/80/365084

  Introduction Top

Primary ciliary dyskinesia (PCD) or immotile cilia syndrome is a rare autosomal recessive genetic disorder of cilia primarily characterized by recurrent respiratory infections (sinusitis and bronchitis) that eventually leads to the development of bronchiectasis caused by defective mucociliary clearance due to dyskinesia of respiratory tract cilia and infertility caused by asthenozoospermia (nonmotile or poorly motile sperm) due to impaired sperm tail movement.[1] In half of the cases, PCD is associated with situs inversus and is known as Kartagener's syndrome (KS).[2] Cilia abnormalities are the underlying cause of this syndrome. Recent studies in which diagnosis was based on ultrastructural study of the cilia have shown that the prevalence of PCD is ~ 1/10 000 live births.[3] Although airway symptoms usually begin in early childhood, the diagnosis is sometimes delayed for several years.[4],[5] Understanding the physiology is essential to diagnose the disease at an earlier stage and thereby initiating the treatment early to prevent further structural lung damage in patients with PCD.

  Case Report Top

A 40-year-old nonsmoking South Indian male presented to our emergency with acute-onset breathlessness and left-sided chest pain. He had been experiencing a productive cough and dyspnea (British Medical Research Council Dyspnoea Scale Grade 3) for 10 days before this admission. Clinical examination revealed respiratory distress with respiratory rate of 25 per min, heart rate of 120 per min, and hyperresonant percussion note with decreased breath sounds. There was no evidence of digital clubbing, lymphadenopathy, oral ulcers, or skin lesions. Other system examinations were normal. High-resolution computed tomography (HRCT) of the chest which was performed outside before the admission showed left-sided pneumothorax with passive collapse along with bilateral lower lobe bronchiectasis, bronchial wall thickening, and bilateral panacinar emphysema [Figure 1]. Chest X-ray performed in the emergency department showed a left-sided pneumothorax with lung collapse [Figure 2]a; hence, immediate intercostal drainage with underwater seal was performed. After 72 h of intercostal drain insertion, his lung showed complete expansion with no air leak which was evident on repeat chest X-ray [Figure 2]b and his clinical condition improved with the treatment given. He later revealed that he had experienced recurrent respiratory tract infections with multiple exacerbations since childhood. However, he had no history of allergic symptoms, negative for skin-prick tests with normal amounts of serum total IgE levels. Lung auscultation after Intercostal drainage (ICD) removal revealed bilateral expiratory polyphonic wheeze. Laboratory test and arterial blood gas analysis on admission demonstrated neutrophilia and mild hypoxemia. Spirometry showed forced vital capacity (FVC) of 2.61 L (54% of predicted), forced expiratory volume in 1 s (FEV1) of 1.52 L (37% of predicted), and FEV1/FVC of 0.58. He got married 8 years back and had infertility issues following which in vitro fertilization was done for his partner. All the spermatozoa were found to be nonmotile. Based on these findings, the patient was diagnosed with PCD. Treatment of the persistent exacerbations of bronchiectasis consisted of 14 days broad-spectrum antibiotics and mucolytics (oral N-acetylcysteine tablets at a dose of 600 mg, two times daily). Daily physiotherapy and postural drainage were carried out during the inpatient stay. Theophylline and short-acting inhaled β2 agonists were administered to relieve dyspnea. All these treatment modalities reduced the patient's symptoms and improved his quality of life. Upon discharge, our patient remained on inhaled long-acting (LA) bronchodilators in combination with corticosteroids (budesonide/formoterol at a dose of 160 mcg/4.5 mcg twice daily) and N-acetylcysteine plus acebrophylline. Postural drainage and airway clearance techniques were taught and were advised to be continued at his home even after discharge. Clinical symptoms improved during 1-month follow-up.
Figure 1: HRCT thorax done outside showed left-sided pneumothorax with bilateral lower lobe bronchiectasis with bilateral emphysematous changes. HRCT: High-resolution computed tomography

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Figure 2: (a) Anterior posterior view of the chest taken in the emergency department, demonstrating left-sided pneumothorax with lung collapse, (b) Anterior posterior view of the chest showing complete lung expansion post ICD insertion

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  Discussion Top

PCD is one of those rare autosomal recessive diseases with variable clinical findings. It is caused due to defects of respiratory cilia, sperm tails, and cilia of embryonic nodes. The most common symptoms include chronic sinusitis, bronchiectasis, and male/female infertility because of ciliary dysfunction in both impaired sperm motility in males and ectopic pregnancy in females. KS, which is characterized by the triad of situs inversus, bronchiectasis, and chronic sinusitis, was the first reported type of PCD in 1933.[6] In PCD, the clinical phenotype is intensive and it overlaps with other chronic diseases of the respiratory tract.[7] Diagnosis of PCD is usually delayed or neglected completely because of its variable presentation. One study reported that more than 70% of patients visited physician for consultation >50 times before the actual diagnosis was made.[8] This emphasizes the importance of including PCD as a differential diagnosis in patients with recurring symptoms in the upper and lower respiratory tract.[9] Diagnosing the disease early helps the individuals to have a good quality of life. Further treatment strategies should include physiotherapy, postural drainage, physical exercise, and treatment of secondary infections. Our patient had recurrent respiratory tract infections with multiple hospital visits since his childhood. His clinical manifestations included chronic sinusitis, primary infertility, and bronchiectasis with situs inversus in HRCT images. The Diagnosis of PCD is usually obtained by assessing the ciliary motility using video recording with Electron microscopic confirmation of the ultrastructural defects of the dynein arms in Nasal or Bronchial Brushing/Biopsy samples. In our case , all these tests were not performed as the diagnosis of PCD was a Clinco-radiological one. Although most of the PCD presents with obstructive airflow limitation, this is very rare that these patients have both spontaneous pneumothorax with coexistence of obstructive emphysema. Air flow limitation and emphysema formation could be the consequence of recurrent respiratory tract infection, leading to chronic airway inflammation. . In the treatment of PCD, most of the patient care are empirically based on other chronic suppurative or inflammatory lung disease. Our patient received a course of intravenous antibiotics, mucolytics, bronchodilators, and daily chest physiotherapy and postural drainage therapy during the hospital stay. Of note, he had received inhalation of budesonide/formoterol in combination with oral N-acetylcysteine for 1 month with intent to alleviate the pulmonary inflammation and respiratory symptoms. The frequency of acute exacerbations of lower respiratory tract infections decreased significantly and lung function kept stable follow-up, suggesting that our patient benefited from the inhaled corticosteroids (ICS) with LA β2 agonist combined with N-acetylcysteine and acebrophylline.

In conclusion, this report describes a rare case of PCD with secondary spontaneous pneumothorax, and the patient has good response to local ICS with LA β2 agonist combined with N-acetylcysteine. Although there is a lack of significant research results to support our treatment strategies, our case report suggests that this combined treatment might be one of the potential therapies to delay progression of PCD and reduce the frequency of future exacerbations. Future studies on such patients regarding the response to combined therapy are expected to confirm our speculations.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

Moore A, Escudier E, Roger G, Tamalet A, Pelosse B, Marlin S, et al. RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa. J Med Genet 2006;43:326-33.  Back to cited text no. 1
Guichard C, Harricane MC, Lafitte JJ, Godard P, Zaegel M, Tack V, et al. Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome). Am J Hum Genet 2001;68:1030-5.  Back to cited text no. 2
Afzelius BA, Stenram U. Prevalence and genetics of immotile-cilia syndrome and left-handedness. Int J Dev Biol 2006;50:571-3.  Back to cited text no. 3
Bush A, Chodhari R, Collins N, Copeland F, Hall P, Harcourt J, et al. Primary ciliary dyskinesia: Current state of the art. Arch Dis Child 2007;92:1136-40.  Back to cited text no. 4
Barbato A, Frischer T, Kuehni CE, Snijders D, Azevedo I, Baktai G, et al. Primary ciliary dyskinesia: A consensus statement on diagnostic and treatment approaches in children. Eur Respir J 2009;34:1264-76.  Back to cited text no. 5
Bush A, Cole P, Hariri M, Mackay I, Phillips G, O'Callaghan C, et al. Primary ciliary dyskinesia: Diagnosis and standards of care. Eur Respir J 1998;12:982-8.  Back to cited text no. 6
Noone PG, Leigh MW, Sannuti A, Minnix SL, Carson JL, Hazucha M, et al. Primary ciliary dyskinesia: Diagnostic and phenotypic features. Am J Respir Crit Care Med 2004;169:459-67.  Back to cited text no. 7
Sommer JU, Schäfer K, Omran H, Olbrich H, Wallmeier J, Blum A, et al. ENT manifestations in patients with primary ciliary dyskinesia: Prevalence and significance of otorhinolaryngologic co-morbidities. Eur Arch Otorhinolaryngol 2011;268:383-8.  Back to cited text no. 8
Ellerman A, Bisgaard H. Longitudinal study of lung function in a cohort of primary ciliary dyskinesia. Eur Respir J 1997;10:2376-9.  Back to cited text no. 9


  [Figure 1], [Figure 2]


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