Immotile cilia disease with neonatal disclosure. Ultrastructural study
Canet, E.; Bernaudin, J.F.; Pinchon, M.C.; Canet, J.
Presse Medicale 13(26): 1607-1611
1984
ISSN/ISBN: 0755-4982 PMID: 6234556 Document Number: 231169
Recurrent bronchopulmonary and E.N.T. infections in a 2-month old child with complete situs inversus suggested an immotile cilia syndrome. Electron microscopy of the respiratory epithelium cilia demonstrated an ultra structural abnormality (defective radial spokes) typical of this recently discovered syndrome. This case is similar to 3 other cases in infants reported in the literature. It shows that the clinical manifestations of ciliary dysfunction may occur soon after birth and that early detection is desirable for optimal treatment. The type of abnormality detected and the percentage of cilia affected demonstrate that the syndrome is congenital and not acquired and provide information of the degree of ciliary dyskinesia. The genetic aspects are discussed. A diagnosis of "immotile cilia" syndrome should systematically be envisaged in infants with recurrent pneumonia or otitis of unknown aetiology, or when the clinical context (situs inversus, family history) is suggestive of the conditions.