Case of Rare Autosomal Recessive Genetic Ciliary Disorder

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Kartagener’s Syndrome
Source: The New England Journal of Medicine

Kartagener’s syndrome

This article describes the case of a 46-year-old female patient who presented to the clinic with symptoms of fever, productive cough and shortness of breath. The symptoms appeared 2 weeks ago. Her medical history revealed Kartagener’s syndrome.

Examination showed that the patient was afebrile with an oxygen saturation level of 95% while she was breathing ambient air. Auscultation of the lungs was significant for rales and expiratory wheezing in both lungs. Doctors advised a CT scan of the chest which showed bronchiectasis in both lower lobes of the lungs with presence of tree-in-bud nodularity. The bronchiectasis was more evident in the lower left lobe with dextocardia. For further evaluation, the patient’s sputum was sent for culture which grew Pseudomonas aeruginosa.

Doctors advised treatment with levofloxacin after which the cough, shortness of breath and fever resolved.

However, two months later, the patient also developed facial pain. The findings of repeat CT of the head led to the diagnosis of acute sinusitis with maxillary sinus air-fluid levels with chronic mucosal thickening. Doctors again put the patient on antibiotic treatment after which the patient’s symptoms resolved. A previous abdominopelvic CT scan of the patient showed situs inversus totalis. Based on the findings, the patient’s symptoms were linked with Kartagener’s syndrome.

Kartagener’s syndrome is a type of ciliary dyskinesia which manifests with symptoms of situs inversus, chronic sinusitis, and bronchiectasis. The syndrome is often also associated with infertility. Doctors continued the patient on follow-up with a multidisciplinary approach.

References

Kartagener’s Syndrome https://www.nejm.org/doi/full/10.1056/NEJMicm2028152

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Dr. Aiman Shahab is a dentist with a bachelor’s degree from Dow University of Health Sciences. She is an experienced freelance writer with a demonstrated history of working in the health industry. Skilled in general dentistry, she is currently working as an associate dentist at a private dental clinic in Karachi, freelance content writer and as a part time science instructor with Little Medical School. She has also been an ambassador for PDC in the past from the year 2016 – 2018, and her responsibilities included acting as a representative and volunteer for PDC with an intention to make the dental community of Pakistan more connected and to work for benefiting the underprivileged. When she’s not working, you’ll either find her reading or aimlessly walking around for the sake of exploring. Her future plans include getting a master’s degree in maxillofacial and oral surgery, settled in a metropolitan city of North America.

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