J Rhinol.  2017 Nov;24(2):118-122. 10.18787/jr.2017.24.2.118.

A Case of Primary Ciliary Dyskinesia

• Kang SH
• Kim JH
• Kim H
• Kim TH

• KMID: 2398830
• DOI: http://doi.org/10.18787/jr.2017.24.2.118

Abstract

Primary ciliary dyskinesia is a disease characterized by unexplained neonatal respiratory distress, otitis media, chronic sinusitis, and chronic bronchiectasis. In approximately half of cases, situs inversus totalis or other laterality defects are found. The incidence ranges from 1 in 4,000 to 1 in 40,000 live births. Early diagnosis is important and the disease is finally confirmed by electron microscopic biopsy. The treatment of primary ciliary dyskinesia is based on appropriate procedures. We present a rare case of a 20-year-old male with bronchiectasis, chronic otitis media and chronic sinusitis.

Keyword

Primary ciliary dyskinesia; Electron microscope; Ultrastructure

MeSH Terms

Biopsy
Bronchiectasis
Early Diagnosis
Humans
Incidence
Kartagener Syndrome*
Live Birth
Male
Otitis Media
Sinusitis
Situs Inversus
Young Adult

Figure

• 

  Fig. 1 Endoscopic view of the right nasal cavity. A nasal polyp arising from the left middle turbinate (Arrows).

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  Fig. 2 OMU CT scan (coronal view) reveals soft tissue opacification in both frontal (A), ethmoid, maxillary (B), and sphenoid sinuses (C).

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  Fig. 3 Chest CT scan (coronal view) shows bronchial wall thickening (arrow) and tram-track sign (arrowhead), suggesting bronchiectasis.

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  Fig. 4 Temporal bone CT scan (axial view) shows sclerotic changes of the mastoid cavities (arrowheads), normal ossicular chains, and soft tissue filling middle ear cavities (arrows), suggesting bilateral chronic otitis media.

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  Fig. 5 Microscopic finding of the nasal polyp shows the lining of c ciliated columnar cells and infiltrating inflammatory cells (arrows) (H-E stain, ×200).

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  Fig. 6 A cross-sectioned nasal cilia shows the absence of inner dynein arms under transmission electron microscopy (arrows).

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