Primary ciliary dyskinesia and situs ambiguus: A rare association

摘要

Primary ciliary dyskinesia (PCD) is a rare disorder with impaired ciliary function resulting in a spectrum of clinical manifestations of varying severity. PCD affects approximately one in every 20,000 individuals with a reported prevalence between 1:4000 and 1:50,000. Due to its nonspecific clinical features, the condition is usually diagnosed late in its course, unless situs inversus (SI) or organ laterality defects are discovered at imaging. A small subset of patients with PCD display associated organ laterality defects, different from the classical SI totalis. We present here, the clinical and imaging findings in a young female with PCD along with left-sided isomerism, a variant of heterotaxy syndromes.