Elsevier

Clinical Radiology

Volume 62, Issue 10, October 2007, Pages 986-993
Clinical Radiology

Primary ciliary dyskinesia in the paediatric population: range and severity of radiological findings in a cohort of patients receiving tertiary care

https://doi.org/10.1016/j.crad.2007.04.015Get rights and content

Aim

To investigate the clinical range and severity of radiological findings in a cohort of patients with primary ciliary dyskinesia (PCD) receiving tertiary care.

Materials and methods

The case notes and clinical test results of 89 children attending the paediatric respiratory disease clinic at our institution were retrospectively analysed. Demographic details including age at diagnosis and common presenting signs and symptoms were studied. Results of chest radiographs, microscopy, and high-resolution computed tomography (HRCT) for quantification of lung damage were analysed.

Results

In a cohort of 89 children with PCD, a presentation chest radiograph was available in 62% of patients (n = 55), with all but one demonstrating changes of bronchial wall thickening. HRCT of the lungs, available in 26 patients, were scored using the system described by Brody et al. analysing five specific features of lung disease, including bronchiectasis, mucus plugging, peribronchial thickening, parenchymal changes of consolidation, and ground-glass density, and focal air-trapping in each lobe. Peribronchial thickening was observed using HRCT in 25 patients, while 20 patients had bronchiectasis. Severity scores were highest for the middle and the lingular lobes.

Conclusion

The radiographic findings of the largest reported cohort of patients with PCD are presented, with associated clinical findings. Dextrocardia remains the commonest finding on chest radiography. HRCT demonstrates peribronchial thickening and bronchiectasis, which is most marked in the lower zones. Radiological scoring techniques developed for assessment of cystic fibrosis can also be applied for the assessment of disease severity in this patient population.

Introduction

Primary ciliary dyskinesia (PCD) is a relatively rare autosomal recessive disease characterized by congenital impairment of mucociliary transport. This genetically, functionally, and ultrastructurally heterogeneous disease affects 1 in 20,000 to 1 in 30,000 individuals at birth.1, 2 Clinical manifestations include chronic respiratory tract infections beginning in early childhood and leading to chronic bronchitis and /or bronchiectasis, chronic rhinosinusitis and otitis media. Situs inversus and male infertility are also present in a high percentage of cases. There is a large variation in the severity of clinical phenotype and diagnosis may be difficult due to an overlap with other chronic airways diseases. Therefore a high index of suspicion is necessary for the diagnosis of PCD, which relies on a combination of clinical evaluation and electron microscopic analysis of ciliary ultrastructure. The aim of this study was to review the range and severity of radiological findings in a cohort of patients with PCD referred for tertiary care.

Section snippets

Materials and methods

The case notes and clinical test results of 89 children with known PCD attending the paediatric respiratory diseases clinic at our institution, a tertiary referral centre, were retrospectively analysed. Information gathered included age at PCD diagnosis, details of oto-sino-pulmonary signs and symptoms, affected siblings, spirometry, and sputum microbiology. Ethics committee approval was not required for a retrospective review of this type at our institution.

Diagnostic tests could be

General

Review of the patient database revealed 89 children attending the PCD clinic at the Paediatric Respiratory Diseases Department at our institution. Of the 89 children, 35 were females and 54 males. Median age at presentation was 4 years (range: birth to 14.4 years). Eight patients were diagnosed in the neonatal period and 21 within the first year of life. Overall 24.7% (n = 22) of the children had a positive family history of PCD either involving a sibling or a first-degree relative. Forty-nine

Discussion

To the authors' knowledge this is the largest radiological review of PCD to date. The commonest feature on chest radiography was dextrocardia, seen in just over half of patients. Hyperinflation was observed in nearly half the patients, while ring shadows or bronchial wall thickening were almost invariably present to some degree. These findings are in agreement with previous studies,5 which also found atelectasis and consolidation to be common features.

It is well recognized that HRCT is more

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