Open AccessPrimary ciliary dyskinesia and situs ambiguus: A rare association
Author(s) -
Narendra Kumar Narahari,
Anu Kapoor,
Sarat Kumar Sanamandra,
Surya Ramachandra Varma Gunturi
Publication year - 2018
Publication title -
international journal of applied and basic medical research/international journal of applied and basic medical research
Language(s) - English
Resource type - Journals
eISSN - 2248-9606
pISSN - 2229-516X
DOI - 10.4103/ijabmr.ijabmr_341_16
Subject(s) - primary ciliary dyskinesia , situs inversus , medicine , laterality , kartagener syndrome , cilium , heterotaxy , bronchiectasis , dyskinesia , dextrocardia , anatomy , pathology , surgery , audiology , lung , biology , disease , heart disease , parkinson's disease , microbiology and biotechnology
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.