Primary Ciliary Dyskinesia(Immotile Cilia Syndrome): Clinical and electron microscopic analysis of 17 cases

ABSTRACT

Immotile cilia syndrome is a genetically determined disorder characterized by immotility or poor motility of the cilia in the airways and elsewhere. Since its first description in 1976 determination of a ciliary abnormality has now clarified its variable expression and pleiotropism. Certain specific defects in the ciliary axoneme can be found and are pathognmoic of the syndrome. These defects include missing dynein arms, abnormally short dynein, arms, spokes with no central sheath, missing central microtubules, and displacement of one of the nine peripheral doublets. We have studied 80 cases of bronchial or nasal mucosal biopsies that were performed with the suspicion of immotile cilia syndrome. Of 80 cases only 17 cases were sampled optimally to be able to observe under transmission and scanning electron microscopes. All 17 cases had certain abnormality of the cilia. They consisted of Ia(3 cases), Ib(3 cases), Id only(3 cases) and Id+other types(6 cases) a according to Sturgess classification. Seven cases consisted of 1 solitary and 6 combined form; II+Id(1 case) and II+Id+III(5 case). All 5 cases of type III were combined with Id and II. Clinically most pronounced manifestations were cough(82%), sputum(59%), rhinorrhea(41%) and nasal stuffiness(35%), All the patients were below the age of 15 years, and there were 6 boys and 11 girls.