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Child's Nervous System

, Volume 34, Issue 7, pp 1423–1425 | Cite as

Late-onset hydrocephalus in a child with Joubert syndrome: a case report

  • M. K. Fehrenbach
  • U. Nestler
  • J. Meixensberger
  • M. K. Bernhard
  • A. Merkenschlager
  • S. Weise
  • M. Krause
Case Report

Abstract

Introduction

The ciliopathy “Joubert syndrome” was first described in 1969 by Dr. Marie Joubert and most subtypes follow an autosomal recessive inheritance. The complex disorder shows typical clinical features, such as hyperventilation, abnormal eye movements, and retardation. A pathognomonic midbrain-hindbrain malformation, the molar tooth sign, can be found on magnetic resonance imaging of the brainstem. There are a little more than 200 reports of Joubert syndrome in the literature.

Case presentation

We report a case of a 9-year-old boy who developed a progressive hydrocephalus starting from the age of 4. He underwent VP shunt placement at 8 years, which relieved hydrocephalus-related clinical symptoms and put development of the macrocephalus to a halt.

Conclusion

Neonatal hydrocephalus due to the altered anatomy of the posterior fossa has been reported earlier, but to our knowledge, this is the first case of a delayed onset of hydrocephalus in a patient with Joubert syndrome.

Keywords

Joubert syndrome Hydrocephalus Ciliopathy VP shunt 

Notes

Compliance with ethical standards

Conflict of interest

On behalf of all authors, the corresponding author states that there is no conflict of interest.

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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  • M. K. Fehrenbach
    • 1
  • U. Nestler
    • 1
  • J. Meixensberger
    • 1
  • M. K. Bernhard
    • 2
  • A. Merkenschlager
    • 2
  • S. Weise
    • 2
  • M. Krause
    • 1
  1. 1.Department of NeurosurgeryUniversity Clinic of LeipzigLeipzigGermany
  2. 2.Department of Pediatrics Hospital for Children and AdolescentsUniversity Clinic of LeipzigLeipzigGermany

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