Primary ciliary dyskinesia: Report of three cases in Lagos South West Nigeria.

Abstract

Primary Ciliary dyskinesia (PCD) is rare with a prevalence of about 1:30,000 with Kartagener Syndrome occurring in about half of them. Kartagener syndrome is a subcategory of PCD which is a genetically determined syndrome said to be inherited by autosomal reccesive with incomplete penetrans. In Nigeria there exists few isolated case reports about this condition. Three patients consisting of two females and one male were seen in the respiratory clinic of an urban tertiary health having presented with recurrent haemoptysis and recurrent lower respiratory tract infections, which dated to childhood. There was no family history. Bronchiectasis was diagnosed in all the three cases with HRCT. Dextrocardia was present in two patients with situs inversus. Two of the patients had primary infertility. Pulmonary function test was done in two patients and was abnormal. Chronic sinusitis was also present in all patients. We diagnosed primary ciliary dyskinesia in these three patients. PCD is rare but high index of suspicion is needed in this part of the world for early diagnosis and prevention of long-term sequelae. All the three patients responded well to bronchodilators, broad-spectrum antibiotics and chest physiotherapy.