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Joubert Syndrome Presenting With Normal Pyramidal Decussation: A Case Report.

Nam-Sik Kim1, Sung-Hee Park1

  • 1Department of Physical Medicine and Rehabilitation, Chonbuk National University Medical School, Jeonju, Korea.

Annals of Rehabilitation Medicine
|October 4, 2017
PubMed
Summary

Joubert syndrome (JS) typically involves abnormal corticospinal tract development. This case presents a rare instance of normal pyramidal decussation in JS, suggesting diverse motor tract patterns in this genetic disorder.

Keywords:
Developmental disabilitiesEvoked potentialsJoubert syndrome

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Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • Joubert syndrome (JS) is a rare genetic disorder.
  • JS is characterized by hindbrain malformation and abnormal axonal decussation.
  • Abnormalities typically affect the corticospinal tract and superior cerebellar peduncles.

Purpose of the Study:

  • To report a case of Joubert syndrome with normal pyramidal decussation.
  • To investigate corticospinal tract organization in JS.
  • To explore potential variations in motor tract patterns in JS.

Main Methods:

  • Case study of an 18-year-old male with Joubert syndrome.
  • Diffusion tensor imaging (DTI) analysis.
  • Motor evoked potential (MEP) study.

Main Results:

  • The patient exhibited midline-crossing corticospinal projections, considered normal trajectories.
  • DTI and MEP studies confirmed the exclusive presence of decussating corticospinal projections.
  • This finding contrasts with previously reported cases of JS.

Conclusions:

  • Joubert syndrome may present with diverse patterns of corticospinal motor tract organization.
  • The presence of normal pyramidal decussation in JS challenges existing assumptions.
  • Further research is needed to understand the spectrum of neuroanatomical variations in JS.