A Case of Primary Ciliary Dyskinesia

Sung Hoon Kang; Jae Hyung Kim; Hyunjung Kim; Tae Hoon Kim

doi:10.18787/jr.2017.24.2.118

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Kang, Kim, Kim, and Kim: A Case of Primary Ciliary Dyskinesia

Case Report

Journal of Rhinology 2017; 24(2): 118-122.

Published online: 30 November 2017

DOI: https://doi.org/10.18787/jr.2017.24.2.118

A Case of Primary Ciliary Dyskinesia

Sung Hoon Kang, MD, Jae Hyung Kim, MD, Hyunjung Kim, MD, Tae Hoon Kim, PhD, MD

Department of Otorhinolaryngology-Head and Neck Surgery, Korea University College of Medicine, Seoul, Korea.

Corresponding author: Tel: +82-2-920-5486, Fax: +82-2-925-5233, doctorth@korea.ac.kr

Received 6 April 2017 Revised 30 June 2017 Accepted 26 July 2017

Journal of Rhinology

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.

Keywords: Primary ciliary dyskinesia, Electron microscope, Ultrastructure

Figures and Tables

Fig. 1

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

Fig. 2

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

Fig. 3

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

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.

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).

Fig. 6

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

Acknowledgments

This research was supported by the Basic Science Research Program through the National Research Foundation of Korea funded by the Science and Technology and the Ministry of Science, ICT & Future Planning (NRF-2016R1E1A2020731, 2017R1A2B2003575) and a grant of the Korea Health Technology R&D Project through the Korea Health Industry Development Institute (KHIDI), funded by the Ministry of Health & Welfare, Republic of Korea (grant number: HI17C0387). This research was also supported by a grant of Korea University Medical Center and Anam Hospital, Seoul, Republic of Korea (O1700021).

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