Related Experiment Video
Updated: Apr 22, 2026

High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia
Published on: January 19, 2022
Ciliary inclusion disease: report of a new primary ciliary dyskinesia variant
Eric P Wartchow1, Ronald Jaffe, Gary W Mierau
11 Children's Hospital Colorado, Department of Pathology, Aurora, CO, USA.
Abstract:
Biopsies from 6 children with clinical presentations suggestive of primary ciliary dyskinesia (PCD) displayed respiratory epithelial cells with disorganized accumulations of basal bodies within the cytoplasm and large intracytoplasmic vesicles into which projected numerous microvilli and cilia. Microvilli, but few cilia, were present at the cell surface. Ultrastructural study revealed a variety of nonspecific abnormalities but demonstrated the cilia generally to be morphologically normal, suggesting that the cause of cilia malfunction was not any recognized primary cause or secondary effect. Repeat studies from 2 patients produced similar findings. It is proposed that this entity, termed ciliary inclusion disease, represents a variant form of PCD manifesting as a consequence of improper ciliogenesis caused by inhibited cytoskeleton-regulated migration of basal bodies to the luminal surface of the airway respiratory epithelial cells.
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