Primary ciliary dyskinesia. Case report

Abstract

Primary ciliary dyskinesia (also known as Syndrome of Ciliary Motility Disorders), is characterized by chronic cough, rhinitis and chronic sinusitis. When situs inversus, chronic sinusitis, and bronchiectasis are present at the same time, that triad is known as Kartagener syndrome. It has a prevalence of 1:40 000 to 1:60 000. The primary cilliar dyskinesia is inherited in an autosomic recessive form and it’s a highly heterogeneous syndrome. The situs inversus feature apparently has a random determination. There are variations in the clinical presentation, although the respiratory tract infections are the most common as well as sinusitis; it could also be found alteration in reproductive and central nervous system, among others. At present there are no specific therapeutic ways to correct the cilliar dysfunction. That’s why the treatment is symptomatic and prophylactic. Progression is variable and some people with the syndrome could have an almost normal life. Here is presented the case of a patient with situs inversus, who presents respiratory symptoms and little response to previous treatments. After some imaging and some hematological studies, the kartagener syndrome diagnosis is made.