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Magnetic resonance imaging in lactic acidosis
M S van der Knaap1, C Jakobs, J Valk
1Department of Pediatrics, Free University Hospital, Amsterdam, The Netherlands.
Journal of Inherited Metabolic Disease
|January 1, 1996
Summary
Mitochondrial defects, gluconeogenesis issues, and biotin deficiency cause lactic acidosis. Brain MRI findings can help diagnose these metabolic disorders, showing patterns like hypoxia-ischaemia or neurodegeneration.
Area of Science:
- Neurology
- Metabolic Disorders
- Medical Imaging
Background:
- Primary lactic acidosis can stem from mitochondrial defects, gluconeogenesis impairment, or biotin-responsive multiple carboxylase deficiency.
- These metabolic disorders present significant diagnostic challenges.
Purpose of the Study:
- To review characteristic brain MRI findings in primary lactic acidosis disorders.
- To correlate MRI abnormalities with histopathological findings.
- To discuss the diagnostic utility of MRI in these conditions.
Main Methods:
- Review of literature on brain MRI findings in inborn errors of metabolism causing lactic acidosis.
- Correlation of imaging features with histopathological data.
- Analysis of diagnostic patterns observed in MRI.
Main Results:
- Specific MRI patterns are associated with mitochondrial defects, gluconeogenesis disorders, and biotin deficiency.
- MRI findings often mimic hypoxia-ischaemia or show neurodegeneration.
- Predominantly white-matter changes are less common in these specific disorders.
Conclusions:
- Brain MRI is a valuable tool for diagnosing inborn errors of metabolism with primary lactic acidosis.
- Characteristic MRI lesions suggestive of hypoxia-ischaemia or neurodegeneration warrant consideration of these metabolic disorders.