Primary ciliary dyskinesia and hydrocephalus with aqueductal stenosis

J Child Neurol. 2012 Jul;27(7):938-41. doi: 10.1177/0883073811429856. Epub 2012 Jan 30.


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.

Publication types

  • Case Reports

MeSH terms

  • Cerebral Ventricles / pathology*
  • Female
  • Humans
  • Hydrocephalus / complications*
  • Hydrocephalus / diagnostic imaging
  • Hydrocephalus / pathology
  • Infant, Newborn
  • Kartagener Syndrome / complications*
  • Kartagener Syndrome / diagnostic imaging
  • Kartagener Syndrome / pathology
  • Radiography
  • Respiratory Mucosa / pathology
  • Respiratory Mucosa / ultrastructure
  • Tomography Scanners, X-Ray Computed