|Year : 2021 | Volume
| Issue : 2 | Page : 101-104
A case report on chronic productive cough with intermittent respiratory distress: A presentation of Kartagener’s syndrome in the department of paediatrics in BSMMU
Jesmeen Morshed1, M Ridwanul Islam1, Chowdhury Shamsul Haque Kibria1, Farzana Siddiqua2, Mahbub Mutanabbi1
1 Department of Paediatrics, Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh
2 Department of Pharmacology, Kuwait Bangladesh Friendship Government Hospital, Dhaka, Bangladesh
|Date of Submission||30-Oct-2021|
|Date of Acceptance||30-Oct-2021|
|Date of Web Publication||28-Feb-2022|
Dr. Jesmeen Morshed
Department of Paediatrics, Bangabandhu Sheikh Mujib Medical University, Dhaka,
Source of Support: None, Conflict of Interest: None
Kartagener’s syndrome or primary ciliary dyskinesia (PCD) is a very rare congenital malformation comprising of a classic triad of sinusitis, situs inversus, and bronchiectasis. PCD is a genetic disorder with manifestations present from early life, and this distinguishes it from acquired mucociliary disorders. Approximately one half of patients with PCD have situs inversus. We present a case of 12-year-old girl with sinusitis, situs inversus, and bronchiectasis. The correct diagnosis of this rare congenital autosomal recessive disorder in early life is important for the overall prognosis of the syndrome, as many of the complications can be prevented if timely management is instituted.
Keywords: Bronchiectasis, Kartagener’s syndrome, primary ciliary dyskinesia, sinusitis, situs inversus
|How to cite this article:|
Morshed J, Islam M R, Kibria CS, Siddiqua F, Mutanabbi M. A case report on chronic productive cough with intermittent respiratory distress: A presentation of Kartagener’s syndrome in the department of paediatrics in BSMMU. Paediatr Nephrol J Bangladesh 2021;6:101-4
|How to cite this URL:|
Morshed J, Islam M R, Kibria CS, Siddiqua F, Mutanabbi M. A case report on chronic productive cough with intermittent respiratory distress: A presentation of Kartagener’s syndrome in the department of paediatrics in BSMMU. Paediatr Nephrol J Bangladesh [serial online] 2021 [cited 2022 Dec 1];6:101-4. Available from: http://www.pnjb-online.org/text.asp?2021/6/2/101/338568
| Introduction|| |
Kartagener triad is situs inversus totalis, chronic sinusitis, and bronchiectasis. It occurs in 1 out of 30,000 live births. It is not dependent on race, gender, or geographic region. Kartagener syndrome (KS) can be diagnosed at any age. About 50% of KS cases do not have dextrocardia. It is named after German physician, Manes Kartagener. Kartagener reported his first case in 1933.
Primary ciliary dyskinesia (PCD) has autosomal recessive patterns of inheritance, although rare cases of autosomal dominant and X-linked inheritance have been reported. PCD is caused by multiple mutations of the DYNEIN gene.
KS should always be considered in patients with recurrent respiratory infections, sinusitis, and chronic cough. Symptoms result from impaired mucociliary clearance. Clinical manifestation includes recurrent respiratory infections, bronchiectasis, sinusitis, chronic otitis, dextrocardia, and infertility. Transmission electron microscopy is a gold standard for diagnosis. There is no curative treatment. Early diagnosis and intervention can improve the survival.
| Case Report|| |
A 12-year-old immunized girl, fourth issue of non-consanguineous parents, presented with irregular fever for 3 months, productive cough, and intermittent respiratory distress for same duration. Cough was more intense at morning, with foul smelling mucopurulent sputum, not blood-stained. She had history of recurrent attacks of similar illness since early life and not growing well in comparison to her peers [Figure 1]. There was no history of delayed passage of meconium, jaundice in neonatal period, loose motion, and greasy stool. There was no history of whooping cough, measles, or choking attack during feeding. Also, there was no history of contact with TB patient. On examination, she was ill looking, dyspneic, febrile (temperature 101°F), mildly pale, moderately underweight (WAZ-2.4). Her body mass index for age was 12.98 kg/m2, BCG mark was present, pulse 96/min and clubbing was present [Figure 2], respiratory rate 36/min, normotensive. Respiratory system examination revealed reduced chest movement and bilateral expansibility reduced. Vocal fremitus and vocal resonance were normal and equal on both sides. Percussion notes were resonant, vesicular breath sound with prolonged expiration, coarse crepitations, and rhonchi in both lung fields.
CVS examination revealed apex beat in right 5th intercostal space, and heart sounds were audible in right side without any murmur. Other system examination revealed no abnormality.
| Investigation|| |
Our patient’s chest X-ray revealed the cardiac shadow and apex on the right side [Figure 3]. High-resolution computed tomography (HRCT) scan of chest [Figure 4][Figure 5][Figure 6] revealed bronchiectatic changes and confirmed situs inversus (such as heart on the right side and HRCT showed dilated bronchi in both lower lobes). Apex of the heart is directed toward right; liver is noted in the left side and fundic gas is noted on the right side. X-ray paranasal sinuses revealed sinusitis [Figure 7]. She also had normal echocardiogram [Figure 8]. Complete blood count showed neutrophilic leukocytosis.
|Figure 3: Chest X-ray posterior anterior view showing dextrocardia and left sided bronchiectasis|
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|Figure 4: Coronal view of computed tomography scan of the chest showing dilated bronchi and fibrotic bands on both lower lobes|
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|Figure 5: Axial view of computed tomography scan of chest dilated bronchi on both lower lobes|
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|Figure 6: Magnified axial view of computed tomography scan of the chest showing dilated bronchi and some cavitary lesion present in both lungs|
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Liver and renal function was normal. To exclude TB, Mantoux test (MT) was done, which was negative (02 mm). AFB was not found in sputum and MTB not detected on multiplex PCR.
Saccharin test was done. It is a non-invasive screening test for the assessment of ciliary function of the respiratory tract in children. The time interval between the deposition of saccharin and sweet taste in our patient is more than 1 h and it is more than the normal level.
| Management|| |
We gave supportive treatment with antibiotic and postural drainage. As it was a diffuse disease, hence medical management was advised. In the meantime, we gave prophylactic antibiotic, inhaled bronchodilator, and mucolytic agents. Patient was stable with this treatment. She had no respiratory distress, cough, and headache. She was advised to continuous clinical follow-up in our outpatient department.
| Discussion|| |
Ciliary motility disorders may be congenital or acquired. PCD is a congenital disorder. PCD with situs inversus is known as Kartagener’s syndrome. PCD is a group of phenotypically and genetically heterogeneous conditions. The main defect of PCD is in the ultrastructure or function of cilia. These defects are identified in approximately 90% of the PCD patient. This involves outer dynein arms, inner dynein arms, or both. Mutations of the dynein genes DNAI and DNAH 5 occur in 38% of the PCD patients. Pathophysiologically, the defective ciliary motility causes accumulation of secretions and consequent recurrent sinusitis, bronchiectasis, infertility, and situs inversus. The severity of symptoms is quite variable, though the symptoms are present from birth. Occasionally, reversible airflow obstruction may be present in Kartagener’s syndrome. Diagnostic criteria of Kartagener’s syndrome include recurrent chest infections, bronchitis, and rhinitis since childhood, along with one or more of the following features: (i) situs inversus, (ii) alive but immotile spermatozoa, (iii) reduced or absent transbronchial mucociliary clearance, and (iv) cilia showing characteristic ultrastructural defect on electron microscopy. Our case fulfilled these criteria. Screening tests of PCD are exhaled nasal nitric oxide measurement, which is usually low in PCD and saccharin test to assess mucociliary function of nasal epithelium. The diagnostic tests of PCD are ciliary beat pattern and frequency analysis using video recording and electron microscopic confirmation of the ultrastructural ciliary defect. In our case, however, we could not perform all these tests. We could only perform saccharin test. So, the diagnosis was essentially clinico-radiological.
Treatment includes antibiotic for upper and lower airway infections. Most common organisms include Staphylococcus aureus and Hemophillus influenzae. Long-term low-dose prophylactic antibiotic may be needed. Inhaled bronchodilators, mucolytic agent, and chest physiotherapy are required to treat obstructive lung disease. Influenza and pneumococcal vaccination should be given. Taina et al. reported a successful pulmonary operation in a 25-year-old man, which was confined to left lobe only. Left lower lobectomy, lingulectomy, and anterior segmentectomy of the left upper lobe were done. In some severe cases, lung transplantation and heart–lung transplantation have been tried with some success., In our case, injectable antibiotic was given, and chest physiotherapy was given. Following that, prophylactic low-dose antibiotic, inhaled bronchodilator, and mucolytic agents were given. With these, the patient was doing better.
| Conclusion|| |
Early diagnosis and treatment of complication improve the quality of life and prognosis of the patients with Kartagener’s syndrome. Late diagnosis with established bronchiectasis worsens the overall prognosis. So, in case of recurrent sinusitis, bronchiectasis with dextrocardia, diagnosis of Kartagener’s syndrome should be kept in mind.
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.
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