Medical Image of the Week: Kartagener Syndrome

Figure 1. Panel A: AP chest x-ray showing dextrocardia with left sided pneumothorax. Panel B: CT Chest lung windows showing diffuse bronchiectasis. Panel C: CT Abdomen consistent with situs inversus.

A 65-year-old woman presented with 7 days of productive cough and the new onset sharp central chest pain. She has a known history of chronic sinusitis and COPD after being a 50 pack-year smoker. On examination, her blood pressure was 116/70 with a heart rate of 86 (sinus rhythm) and oxygen saturations were 93% on 4L/min by nasal cannula. She had bilateral expiratory wheezes with reduced air entry on the left side.

An AP chest x-ray revealed dextrocardia with a left sided tension pneumothorax (Figure 1A). Our patient was stabilized with an urgent chest tube insertion and taken for a CT chest and abdomen. CT chest indicated diffuse bronchiectasis (Figure 1B, arrow) with a CT of the abdomen showing reversal of major abdominal organs (Figure 1C).

First described in 1933, the triad of chronic sinusitis, bronchiectasis, and situs inversus is classic for Kartagener syndrome (1). Otherwise known as primary ciliary dyskinesia, it is an autosomal recessive disorder affecting the dynein motor protein on microtubules. Ciliary dysfunction from an embryonic stage is the underlying cause for 50% of patients with situs inversus (2). Ongoing difficulties clearing mucous and secretions from abnormal ciliary movements accelerates the development of rhinosinusitis and bronchiectasis (3). Fertility is also a common concern with most males being infertile and females having a lower likelihood of successful pregnancy (4).

Confirmatory testing requires electron microscopy to determine ultrastructure and high-speed video microscopy to determine abnormal movement of cilia (4). Long-term management involves control of respiratory complications with regular spirometry and pulmonary follow up.

Debraj Das, MD

Department of Medicine

Faculty of Medicine and Dentistry

University of Alberta

Edmonton, AB, Canada

References 

1. Kartagener M. Zur pathogenese der bronchiectasien. I Mitteilung: bronchiectasien bei situs viscerum inversus. Betr Klin Tuberk. 1933; 83:498-501.
2. Noone PG, Leigh MW, Sannuti A, et al. Primary ciliary dyskinesia: diagnostic and phenotypic features. Am J Respir Crit Care Med. 2004; 169:459-467. [CrossRef] [PubMed]
3. Bush A, Cole P, Hariri M, et al. Primary ciliary dyskinesia: diagnosis and standards of care. Eur Respir J. 1998; 12:982-988. [CrossRef] [PubMed]
4. Knowles MR, Daniels LA, Davis SD, et al. Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease. Am J Respir Crit Care Med. 2013; 188:913-22. [CrossRef] [PubMed] 

Reference as: Das D. Medical image of the week: Kartagener syndrome. Southwest J Pulm Crit Care. 2015;10(6):343-4. doi: http://dx.doi.org/10.13175/swjpcc057-15 PDF

Medical Image of the Week: Carcinoid at the Carina

Figure 1. Flow-volume loop showing flattening of expiratory loop suggesting variable intra-thoracic obstruction.

Figure 2. CT of the chest showing pedunculated tracheal lesion at the level of main carina.

Figure 3. Bronchoscopic view of endobronchial tumor before (Panel A) and after removal (Panel B).

A 74-year-old woman with history of 30 pack-year smoking, allergic rhinitis and asthma presented to pulmonary clinic with cough and dyspnea on exertion. She was placed on inhaled corticosteroids and long-acting beta-agonist. Pulmonary function test showed moderate obstructive ventilator defect and flow volume loop suggested variable intra-thoracic obstruction (Figure 1). In the meantime, she was hospitalized with complaint of dyspnea and possible COPD exacerbation. Het CT chest revealed an endobronchial 12 mm pedunculated lesion at anterior aspect of main carina (Figure 2). She underwent flexible bronchoscopy and lesion was removed using electro-surgical snare and cryoprobe (Figure 3). Her symptoms improved post-procedure. Pathologic examination of lesion revealed a carcinoid tumor.

Endobronchial tumors are masses confined within the bronchus, and may be associated with atelectasis or pneumonia of the distal parenchyma. These tracheobronchial tumors are classified as malignant or benign. Malignant tumors arising from surface epithelium include squamous cell carcinoma and neuro-endocrine tumors; and those arising from mesenchyme include sarcoma and malignant lymphoma. On the other hand, benign tumors arising from surface epithelium include squamous cell papilloma and mucus gland adenoma; and those arising from mesenchyme include hamartoma, lipoma, fibroma, leiomyoma, and neurogenic tumor. Hamartomas may present as a fatty mass, nodules with calcification, or as soft-tissue-density nodules on CT scans. The lipomas manifested as fat density on CT scans. The other benign tumors were low-attenuating, soft-tissue-density masses without characteristic findings on CT scans.

Tauseef Afaq Siddiqi, MD; Muhammad Alzoubaidi, MD; James Knepler, MD and Kenneth Knox, MD

Division of Pulmonary, Allergy, Critical Care and Sleep Medicine, The University of Arizona, Tucson, AZ

Reference

1. Ko JM, Jung JI, Park SH, Lee KY, Chung MH, Ahn MI, Kim KJ, Choi YW, Hahn ST. Benign tumors of the tracheobronchial tree: CT-pathologic correlation. AJR Am J Roentgenol. 2006;186(5):1304-13. [CrossRef] [PubMed] 

Reference as: Siddiqi TA, lzoubaidi M, Knepler J, Knox KS. Medical image of the week: carcinoid at the carina. Southwest J Pulm Crit Care. 2015;10(6):341-2. doi: http://dx.doi.org/10.13175/swjpcc052-15 PDF