A Rare Case of Kartagener Syndrome Presenting with Sinusitis, Situs Inversus, and Bronchiectasis: Emphasizing Early Diagnosis and Management Strategies

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Abstract

Primary ciliary dyskinesia (PCDs), a subset of ciliary motility disorders, includes the rare hereditary illness Kartagener syndrome (KS). Sinusitis, situs inversus, and bronchiectasis, brought on by aberrant ciliary activity, are its defining features. We describe a case of an 18-year-old female with a history of recurrent respiratory complaints and chronic sinusitis. Additional testing confirmed the diagnosis of KS by identifying situs inversus, chronic bronchiectasis, and nasal polyps. This instance emphasizes the value of prompt KS diagnosis and treatment to avoid consequences. Supportive pulmonary care, antibiotics, and chest physical therapy are frequently employed, despite the lack of therapeutic standards. To further understand and manage this illness, more research is required. Patients with recurrent respiratory infections and structural lung disease can identify KS early.

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Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome.

Ian Davis, L. Carson, Jessica Leigh … (2009)

Primary ciliary dyskinesia is a genetically heterogeneous disorder of motile cilia. Most of the disease-causing mutations identified to date involve the heavy (dynein axonemal heavy chain 5) or intermediate(dynein axonemal intermediate chain 1) chain dynein genes in ciliary outer dynein arms, although a few mutations have been noted in other genes. Clinical molecular genetic testing for primary ciliary dyskinesia is available for the most common mutations. The respiratory manifestations of primary ciliary dyskinesia (chronic bronchitis leading to bronchiectasis, chronic rhino-sinusitis, and chronic otitis media)reflect impaired mucociliary clearance owing to defective axonemal structure. Ciliary ultrastructural analysis in most patients (>80%) reveals defective dynein arms, although defects in other axonemal components have also been observed. Approximately 50% of patients with primary ciliary dyskinesia have laterality defects (including situs inversus totalis and, less commonly, heterotaxy, and congenital heart disease),reflecting dysfunction of embryological nodal cilia. Male infertility is common and reflects defects in sperm tail axonemes. Most patients with primary ciliary dyskinesia have a history of neonatal respiratory distress, suggesting that motile cilia play a role in fluid clearance during the transition from a fetal to neonatal lung. Ciliopathies involving sensory cilia, including autosomal dominant or recessive polycystic kidney disease, Bardet-Biedl syndrome, and Alstrom syndrome, may have chronic respiratory symptoms and even bronchiectasis suggesting clinical overlap with primary ciliary dyskinesia.

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Ciliary beat pattern is associated with specific ultrastructural defects in primary ciliary dyskinesia ☆

Mark A Chilvers, Andrew Rutman, Christopher O'Callaghan (2003)

Background The main symptoms of primary ciliary dyskinesia (PCD) are nasal rhinorrhea or blockage and moist-sounding cough. Diagnosis can be difficult and is based on an abnormal ciliary beat frequency, accompanied by specific abnormalities of the ciliary axoneme. It is unknown whether determining ciliary beat pattern related to specific ultrastructural ciliary defects might help in the diagnosis of PCD. Objective We sought to determine ciliary beat pattern and beat frequency (CBF) associated with the 5 common ultrastructural defects responsible for PCD. Methods Nasal brushings were performed on 56 children with PCD. Ciliary movement was recorded using digital high-speed video imaging to assess beat frequency and pattern. Electron microscopy was performed. Results In patients with an isolated outer dynein arm or with an outer and inner dynein arm defect, 55% and 80% of cilia were immotile, respectively. Cilia that moved were only flickering. Mean CBF (± 95% CI) was 2.3 Hz (± 1.2) and 0.8 Hz(± 0.8), respectively. Cilia with an isolated inner dynein arm or a radial spoke defect had similar beat patterns. Cilia appeared stiff, had a reduced amplitude, and failed to bend along their length. Immotile cilia were present in 10% of cilia with an inner dynein arm defect and in 30% of radial spoke defects. Mean CBF was 9.3 Hz (± 2.6) and 6.0 Hz (± 3.1), respectively. The ciliary transposition defect produced a large circular beat pattern (mean CBF, 10.7 Hz [± 1.1]). No cilia were immotile. Conclusions Different ultrastructural defects responsible for PCD result in predictable beat patterns. Recognition of these might help in the diagnostic evaluation of patients suspected of having PCD.

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Kartagener’s syndrome: a case report

Abilo Tadesse, Hailemariam Alemu, Mezgebu Silamsaw … (2018)

Background Kartagener’s syndrome is a subset of primary ciliary dyskinesia, an autosomal recessive inherited disorder characterized by the clinical triad of chronic sinusitis, bronchiectasis, and situs inversus. Abnormal ciliary structure or function leading to impaired ciliary motility is the main pathophysiologic problem in Kartagener’s syndrome. Case presentation A 24-year-old man from Gondar town, North-West Ethiopia, presented to University of Gondar Hospital with recurrent episodes of nasal congestion with itching and paranasal discomfort, and productive cough for more than a decade. Clinical and imaging findings revealed chronic sinusitis, bronchiectasis, dextrocardia, and situs inversus. He was treated with orally administered antibiotics, mucolytic, and chest physiotherapy. He was symptomatically better with the above therapy, and started on a long-term low-dose prophylactic antibiotic. Conclusions Patients with Kartagener’s syndrome exist in Ethiopia as cases of chronic recurrent sinopulmonary infections. As there is no easy, reliable non-invasive diagnostic test for Kartagener’s syndrome and the correct diagnosis is often delayed by years, it may cause chronic respiratory problems with reduced quality of life. Genetic counseling and fertility issues should be addressed once Kartagener’s syndrome is diagnosed.

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Journal

Journal ID (nlm-ta): Cureus

Journal ID (iso-abbrev): Cureus

Journal ID (issn): 2168-8184

Title: Cureus

Publisher: Cureus (Palo Alto (CA) )

ISSN (Electronic): 2168-8184

Publication date (Electronic, pub): 14 July 2023

Publication date (Electronic, collection): July 2023

Volume: 15

Issue: 7

Electronic Location Identifier: e41890

Affiliations

[1 ] General Practice, California Institute of Behavioral Neurosciences & Psychology, Fairfield, USA

[2 ] Internal Medicine, Fauji Foundation Hospital Islamabad, Islamabad, PAK

[3 ] Medicine, Liaquat University of Medical and Health Sciences, Jamshoro, PAK

[4 ] Faculty of Medicine, Damascus University, Damascus, SYR

[5 ] Neuro-Oncology, New York Institute of Technology, College of Osteopathic Medicine, Old Westbury, USA

[6 ] Medicine and Surgery, Karachi Medical and Dental College, Karachi, PAK

[7 ] Department of Medicine, Ghulam Muhammad Mahar Medical College, Sukkur, PAK

[8 ] Internal Medicine, Allama Iqbal Medical College, Lahore, PAK

[9 ] Surgery, Mayo Hospital, Lahore, PAK

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Abdullah Shehryar abdullah.shehryar@ 123456gmail.com

Article

DOI: 10.7759/cureus.41890

PMC ID: 10348689

SO-VID: 6a644b9f-76a6-4f9a-9548-1f81908d1759

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This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

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Date accepted : 14 July 2023

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A Rare Case of Kartagener Syndrome Presenting with Sinusitis, Situs Inversus, and Bronchiectasis: Emphasizing Early Diagnosis and Management Strategies

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Most cited references 9

Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome.

Ciliary beat pattern is associated with specific ultrastructural defects in primary ciliary dyskinesia ☆

Kartagener’s syndrome: a case report

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