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Brain dysfunction in primary ciliary dyskinesia?

Y Roth¹, G L Baum, R Tadmor

¹Department of Polymer Research, Weizmann Institute of Science, Rehovot, Israel.

Acta Neurologica Scandinavica

|November 1, 1988

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Defective ependymal ciliary motion, often seen in Kartagener's syndrome (KS) and primary ciliary dyskinesia (PCD), did not correlate with brain abnormalities. In vitro ciliary beat frequency (CBF) analysis showed slowed or absent cilia in most patients, but CT scans were normal.

Area of Science:

Neurology
Respiratory Medicine
Genetics

Background:

Ependymal cilia facilitate cerebrospinal fluid (CSF) flow.
Defective ciliary function is implicated in neurological disorders.
Kartagener's syndrome (KS) and primary ciliary dyskinesia (PCD) are conditions with impaired ciliary motility.

Purpose of the Study:

To investigate the relationship between defective ependymal ciliary motion and cerebrospinal fluid (CSF) flow.
To assess for brain abnormalities in individuals with conditions affecting ciliary function.

Main Methods:

Studied 8 subjects: 6 with KS, 1 with PCD, 1 with situs inversus.
Performed computerized tomography (CT) of the brain and paranasal sinuses.
Analyzed nasal cilia using in vitro ciliary beat frequency (CBF) measurements.

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Main Results:

Abnormal CBF (slowed or absent) was found in 5/6 KS patients and the PCD patient.
Normal CBF was observed in 1 KS patient and the situs inversus subject.
All subjects exhibited normal brain CT scans; however, 7/8 showed sinus mucosal thickening.

Conclusions:

Slowed or absent ciliary activity in vitro is not associated with detectable brain abnormalities via CT.
Sinus mucosal thickening is common in patients with KS and PCD, irrespective of brain findings.