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Related Experiment Videos

Joubert syndrome: are kidneys involved?

E Boltshauser1, I Forster, T Deonna

  • 1Department of Pediatrics, University of Zuerich, Switzerland.

Neuropediatrics
|December 1, 1995
PubMed
Summary

Joubert syndrome (JS) typically does not involve kidney abnormalities when congenital retinal dystrophy is absent. This study found no renal cysts in children with JS and no retinal dystrophy, suggesting a distinct subgroup may exist if both are present.

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Area of Science:

  • Pediatric Neurology
  • Nephrology
  • Ophthalmology

Background:

  • Joubert syndrome (JS) is a rare genetic disorder affecting brain development.
  • Renal and retinal involvement are known complications in some JS patients.
  • The relationship between renal and retinal manifestations in JS requires further clarification.

Purpose of the Study:

  • To investigate renal involvement in children diagnosed with Joubert syndrome (JS).
  • To determine if renal cystic changes are present in JS patients lacking congenital retinal dystrophy.

Main Methods:

  • Evaluation of 12 children meeting cardinal diagnostic criteria for Joubert syndrome.
  • Clinical assessment for congenital retinal dystrophy.
  • Autopsy in one case and renal ultrasonography in 11 cases to detect cystic kidney changes.

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Main Results:

  • None of the 12 children presented with clinical evidence of congenital retinal dystrophy.
  • One child had normal kidneys upon autopsy.
  • Renal ultrasonography revealed no cystic kidney changes in the remaining 11 children.

Conclusions:

  • Renal involvement, specifically cystic changes, appears absent in Joubert syndrome cases without retinal dystrophy.
  • A potential subgroup or distinct syndrome may involve both renal cysts and retinal dystrophy in JS patients.