title: [Neonatal diagnosis of primary ciliary dyskinesia: report of one case].
abstract: Primary ciliary dyskinesia is a rare, genetic disorder resulting of an abnormal ultrastructural morphology of cilia. Such disease is rarely recognized in neonatal period. We report on a newborn who exhibited unexplained respiratory distress. The diagnosis of primary ciliary dyskinesia was suggested by the association of bilateral and multiple atelectasis and situs inversus. Diagnosis was confirmed by three months of age by ultrastructural study of cilia. Primary ciliary dyskinesia is a rare disease. Diagnosis should be considered in unexplained cases of neonatal respiratory distress, especially when situs inversus totalis and multiple atelectasis are present. Diagnosis requires ciliary studies that can be performed in newborn infants.
authors.affiliation: Service de pédiatrie A, American-Memorial-Hospital, CHU de Reims, 47, rue Cognacq-Jay, 51092 Reims, France. kbessacikabouya@chu-reims.fr
authors.forename: K
authors.initials: K
authors.lastname: Bessaci-Kabouya
authors.forename: L
authors.initials: L
authors.lastname: Egreteau
authors.forename: J
authors.initials: J
authors.lastname: Motte
authors.forename: P
authors.initials: P
authors.lastname: Morville
mesh_terms: D002925:Ciliary Motility Disorders / Q000175:diagnosis*; D005260:Female; D006801:Humans; D007231:Infant, Newborn