Joubert syndrome associated with multicystic kidney disease and hepatic fibrosis

Pediatr Nephrol. 1997 Dec;11(6):746-9. doi: 10.1007/s004670050381.


There are several diseases characterized by renal cysts and neurological abnormalities. Joubert syndrome is distinguished by hypoplasia of the cerebellar vermis, hypotonia, retinal dystrophy characterized by abnormal eye movements, and impaired psychomotor development, together with abnormal respiratory pattern. We describe a boy with Joubert syndrome associated with multicystic renal dysplasia and hepatic fibrosis. We speculate that the association of malformations of the renal and nervous systems in this syndrome and others are not random. Concomitant malformations of these systems are likely based upon their common developmental and genetic features.

Publication types

  • Case Reports

MeSH terms

  • Brain / pathology
  • Cerebellum / abnormalities*
  • Fatal Outcome
  • Humans
  • Infant
  • Kidney / pathology
  • Liver Cirrhosis / complications*
  • Liver Cirrhosis / pathology
  • Male
  • Polycystic Kidney Diseases / complications*
  • Polycystic Kidney Diseases / pathology
  • Syndrome
  • Urinary Bladder / pathology