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Ciliary dyskinesia associated with hydrocephalus and mental retardation in a Jordanian family

M al-Shroof1, A M Karnik, A A Karnik

  • 1Houston Medical Center, Warner Robins, GA 11554, USA.

Mayo Clinic Proceedings
|January 5, 2002
PubMed

Insights

Primary ciliary dyskinesia (PCD) can present with hydrocephalus and mental retardation. This genetic disorder, observed in a Jordanian family, suggests an autosomal recessive inheritance pattern, possibly due to a new mutation.

Area of Science:

  • Genetics
  • Pediatrics
  • Neurology

Background:

  • Primary ciliary dyskinesia (PCD) is a rare genetic disorder affecting cilia function.
  • Its association with hydrocephalus and mental retardation is unusual.

Purpose of the Study:

  • To investigate the clinical presentation and genetic transmission of ciliary dyskinesia syndrome.
  • To describe a family with co-occurring hydrocephalus and mental retardation.

Main Methods:

  • A large Jordanian family spanning 3 generations was studied.
  • Clinical data, including recurrent pulmonary infections and developmental assessments, were collected.
  • Electron microscopy of nasal cilia and brain imaging (CT scans) were performed.
  • Karyotype analysis was conducted.

Main Results:

  • Three affected siblings exhibited features of primary ciliary dyskinesia via nasal cilia electron microscopy.
  • All four affected siblings presented with hydrocephalus on computed tomographic scans.
  • Chromosome analysis revealed a normal karyotype for the family.

Conclusions:

  • The observed symptoms in the Jordanian family are likely linked to ciliary dyskinesia.
  • The condition appears to follow an autosomal recessive inheritance pattern.
  • The combination of ciliary dyskinesia, hydrocephalus, and mental retardation may indicate a novel genetic mutation.
Abstract

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