Scanning and transmission electron microscopic aspects of the nasal acilia syndrome

Abstract

A 3-month-old boy was admitted with failure to thrive and persistent fevers. During a 4 month hospitalization for treatment of suspected sepsis, persistent purulent nasal discharge developed. Biopsies of his nasal mucosa on 3 separate occasions disclosed thinned respiratory epithelium and a complete absence of cilia when examined by electron microscopy (EM). Despite an initial granulocytopenia and a wide range in T-cell numbers, he did not show any evidence of lower respiratory tract infection. A tracheal biopsy process for EM demonstrated normal ciliated epithelium. This patient appears to have an unrecognized syndrome of normal tracheal cilia but absent nasal cilia.

Nasal Mucosal Changes in Children With Frequent Infections

“…He had no cilia in his nose but they were present in the bronchi. 13 In two female siblings with recurrent respiratory tract infections, absence of basal bodies was noted in all exam¬ ined nasal cells.14 It was proposed14 that this defect was due to a genetic mutation. In four children, the num¬ ber of microvilli-equipped cells de¬ creased, which is considered to cause a decrease in the secretion of periciliary fluid, an inhibition of the movements of the cilia, and impairment of the mucus transport.5…”

Mucociliary transport and its assessment: a review

“…Nasal acilia (Rothmund–Thomson) syndrome is an isolated absence of cilia in the nasal mucosa. 61 , 62 The condition presents with chronic rhinitis.…”

Endoscopic Dacryocystorhinostomy Appears to Impair Nasal Mucociliary Clearance

“…27 MCTs are also increased in patients with nasal acilia syndrome or an immunodefi ciency condition. 28,29 MCTs have been improved aft er surgical interventions such as septoplasty and endoscopic sinus surgery when the underlying disease processes that had impaired mucociliary transport were eliminated. 12,22,30 DCR restores the free fl ow of tears to the nasal cavity.…”