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Mitochondrial dysfunction in a patient with Joubert syndrome.

E Morava1, A Dinopoulos, H Y Kroes

  • 1Nijmegen Center for Mitochondrial Disorders, Radboud University, Nijmegen Medical Center, Nijmegen, The Netherlands. E.Morava@cukz.umcn.nl

Neuropediatrics
|June 10, 2005
PubMed
Summary

Joubert syndrome can present with mitochondrial dysfunction, including lactic acidemia. This case suggests the mitochondrial issues may be secondary to the genetic cause of Joubert syndrome.

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Area of Science:

  • Genetics
  • Neurology
  • Biochemistry

Background:

  • Joubert syndrome is a rare genetic disorder characterized by specific neurological and developmental features.
  • Some clinical signs of Joubert syndrome overlap with symptoms seen in neonatal mitochondrial disorders.
  • Pyruvate dehydrogenase deficiency, a mitochondrial disorder, is associated with congenital brain malformations.

Observation:

  • A child with Joubert syndrome exhibited primary lactic acidemia, reduced pyruvate oxidation, and decreased ATP production.
  • Initial muscle biopsy showed mildly decreased pyruvate dehydrogenase complex activity, but genetic testing for common mutations was negative.
  • Clinical improvement and resolution of lactic acidemia occurred with nutritional support.

Findings:

  • A second muscle biopsy revealed persistent mitochondrial dysfunction (decreased pyruvate oxidation and ATP production) despite normal pyruvate dehydrogenase complex activity.

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  • The absence of mutations in PDHc E1 alpha and PDHX genes, coupled with the clinical presentation, points away from primary pyruvate dehydrogenase deficiency.
  • The findings suggest that the observed mitochondrial dysfunction is a secondary consequence of the underlying genetic defect causing Joubert syndrome.

    • Implications:

    • This case highlights a potential link between Joubert syndrome and secondary mitochondrial dysfunction.
    • It broadens the understanding of the phenotypic spectrum of Joubert syndrome.
    • Further research is needed to elucidate the specific genetic mechanisms linking Joubert syndrome to mitochondrial abnormalities.