Department of Neurology, Hospital Dona Estefânia, Centro Hospitalar Lisboa Central, E.P.E.
- J ChildNeurol Jan 2012; 27: 7 938-941.
We report a female patient with situsinversus, 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.
Key-words: primary ciliary dyskinesia, hydrocephalus, aqueductal stenosis.