Primary ciliary dyskinesia in two siblings

Primary ciliary dyskinesia (PCD) is a hereditary disorder with structural and functional impairment of the cilia of the entire body. We report on two siblings (brother and sister) with PCD in whom electron microscopy identified ultrastructural abnormalities and genetic mutations were detected. The 11-year-old sister had repeated pneumonia, acute otitis media and sinusitis since infancy, with a persistent wet cough and purulent sputum developing over the past few years. Chest CT showed atelectasis and bronchodilatation in the middle lobes. However, the patient had no situs inversus. The 8-year-old brother had repeated respiratory infection since infancy and had been treated by an ENT doctor without success. Chest CT showed atelectasis and bronchodilatation in the middle lobes and he had no situs inversus. Electron microscopy studies were performed on biopsy specimens of the nasal mucosa from both cases and revealed a loss of dynein arms of the cilia. DNA analysis in both cases showed a homozygous mutation in the DNAI1 (dynein arm intermediate chain 1) exon 13. Making a diagnosis of PCD without situs inversus can sometimes be very difficult. Thus, when evaluating cases with repeated respiratory infection since infancy, both consideration of PCD along with a careful examination of family histories should be a part of the diagnostic process.