Primary Ciliary Dyskinesia in a Romanian Patient – A Case Report and Literature Review

Abstract

We report here the case of a 7-years-old female first presented in the Department of Pediatric Respiratory Medicine in July 2012 for chronic cough, shortness of breath and wheezing, and important nasal obstruction, with abundant muco-purulent rhinorrhea. The patient had been diagnosed 4 years before with bronchial asthma and followed chronic anti-inflammatory treatment and prolongued courses of antibiotics and mucolytics. ENT examination indicated chronic sinusitis and bilateral serous otitis. Paraclinical examinations revealed a non-specific inflammatory syndrome, of bacterial type, and discreet hypoxemia. Klebsiella and E. coli were isolated from sputum. Moderate obstructive ventilatory dysfunction was identified by spirometry, which was reversible to beta(2)-agonists. Chest radiograph showed right middle lobe consolidation. The subsequent evolution in the next 2 years was relatively stationary, the patient presenting intermittent infectious episodes with increased bronchorrhea and purulent character, nasal obstruction and exertional dyspnea. Dynamic spirometry revealed improved values, but with persistance of obstruction in the small airways, irreversible to beta(2)-agonists. Based on the chronic evolution of symptomatology, nasal mucosa biopsy was recommended due to the suspicion of primary ciliary dyskinesia (PCD). Transmission electron microscopy examination of the biopsy was performed, and absence of both dynein arms in all examined cilia confirmed the suspicion of PCD in this case. This ultrastructural aspect was associated in a few cilia with alterations in the number and/or disposition of the peripheral doublets of microtubules, and of the central pair of microtubules as well. The diagnosis established at this age by the mean of electron microscopy is useful in regard of a continuous, adequate care and treatment that will significantly improve the patient’s quality of life.