title: Primary ciliary dyskinesia and hydrocephalus with aqueductal stenosis.
abstract: We report a female patient with situs inversus, dextrocardia, a complex heart malformation, hydrocephalus due to aqueductal stenosis, and abnormal ultrastructure of the respiratory epithelium cilia. Several animal models of this disorder implicate abnormal ciliary function in the genesis of hydrocephalus, and 11 patients were previously reported with hydrocephalus and the syndrome of primary ciliary dyskinesia. Primary ciliary dyskinesia-associated aqueductal stenosis should be considered as a possible cause for fetal or neonatal hydrocephalus if heterotaxy, heart malformations, and/or a probable genetic etiology are present.
authors.affiliation: Department of Neurology, Hospital de Dona Estefânia, Centro Hospitalar de Lisboa Central, Lisbon, Portugal. jose.vieira@chlc.min-saude.pt
authors.forename: José Pedro
authors.initials: JP
authors.lastname: Vieira
authors.forename: Patricia
authors.initials: P
authors.lastname: Lopes
authors.forename: Rita
authors.initials: R
authors.lastname: Silva
mesh_terms: D002552:Cerebral Ventricles / Q000473:pathology*; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000150:complications* / Q000000981:diagnostic imaging / Q000473:pathology; D007231:Infant, Newborn; D007619:Kartagener Syndrome / Q000150:complications* / Q000000981:diagnostic imaging / Q000473:pathology; D011859:Radiography; D020545:Respiratory Mucosa / Q000473:pathology / Q000648:ultrastructure; D015898:Tomography Scanners, X-Ray Computed