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Related Experiment Videos

Central nervous system malformations in ethylmalonic encephalopathy

M J Nowaczyk1, S I Blaser, J T Clarke

  • 1Department of Pediatrics, Hospital for Sick Children, University of Toronto, Ontario, Canada. nowaczyk@fhs.mcmaster.ca

American Journal of Medical Genetics
|February 25, 1998
PubMed
Summary

Ethylmalonic encephalopathy, a rare organic aciduria, is now linked to central nervous system malformations. This study details two siblings with this condition and associated brain and spinal cord abnormalities.

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Area of Science:

  • Biochemistry
  • Neurology
  • Genetics

Background:

  • Inherited enzyme defects are known to cause central nervous system malformations.
  • Ethylmalonic encephalopathy is an organic aciduria with an unknown cause.
  • Previous reports have not associated ethylmalonic encephalopathy with CNS malformations.

Observation:

  • This study reports on two siblings diagnosed with ethylmalonic encephalopathy.
  • Both siblings presented with malformations of the central nervous system.
  • One sibling had a tethered cord, and the other had cerebellar tonsillar ectopia (Chiari I malformation).

Findings:

  • Confirmed diagnosis of ethylmalonic encephalopathy in both siblings.
  • Documented association between ethylmalonic encephalopathy and specific CNS malformations.

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  • Identification of tethered cord and Chiari I malformation in affected siblings.

    • Implications:

    • Suggests a potential link between ethylmalonic encephalopathy and neurodevelopmental abnormalities.
    • Highlights the importance of neuroimaging in diagnosing ethylmalonic encephalopathy.
    • Opens new avenues for understanding the pathogenesis of ethylmalonic encephalopathy and its neurological consequences.