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Related Experiment Videos

Elevated CSF lactate in the Rett syndrome: cause or consequence?

R Lappalainen1, R S Riikonen

  • 1Department of Child Neurology, Children's Castle Hospital, Helsinki, Finland.

Brain & Development
|September 1, 1994
PubMed
Summary

Elevated cerebrospinal fluid (CSF) lactate in Rett syndrome appears linked to severe hyperventilation and alkalosis, not mitochondrial dysfunction. This finding suggests lactate levels are a secondary effect of respiratory issues in Rett syndrome.

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Area of Science:

  • Neurology
  • Biochemistry
  • Pediatrics

Background:

  • Rett syndrome is a complex neurodevelopmental disorder.
  • Cerebrospinal fluid (CSF) lactate levels and acid-base balance are often investigated in neurological conditions.
  • The relationship between respiratory dysfunction and metabolic markers in Rett syndrome requires further clarification.

Purpose of the Study:

  • To investigate CSF and blood lactate levels and acid-base balance in girls with Rett syndrome.
  • To correlate these biochemical findings with observed respiratory dysfunction, specifically hyperventilation (HV).
  • To determine if elevated CSF lactate in Rett syndrome is indicative of a mitochondrial disorder or a secondary phenomenon.

Main Methods:

  • Measurement of CSF and blood lactate levels.

Related Experiment Videos

  • Analysis of acid-base balance parameters in patients with Rett syndrome.
  • Correlation of biochemical data with clinical observations of respiratory patterns (HV).

    • Main Results:

    • Three patients with intensive hyperventilation exhibited elevated CSF lactate and respiratory alkalosis with low base excess.
    • Two younger patients without HV had normal CSF lactate.
    • One patient with a history of elevated CSF lactate and intensive HV showed normalized lactate levels and mild hypocapnia, indicating a dynamic relationship.

    Conclusions:

    • CSF lactate elevation in Rett syndrome appears to be a secondary phenomenon.
    • The elevated lactate is associated with intensive hyperventilation and respiratory alkalosis.
    • These findings suggest that CSF lactate elevation is not a primary indicator of mitochondrial disorder in Rett syndrome.