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Morphological correlates of mitochondrial dysfunction in children.

C W Chow1, D R Thorburn

  • 1Department of Anatomical Pathology, Royal Children's Hospital, Melbourne, Victoria, Australia. chowcw@cryptic.rch.unimelb.edu.au

Human Reproduction (Oxford, England)
|October 21, 2000
PubMed
Summary

Morphological studies reveal key brain and organ changes in children with mitochondrial diseases. Ultrastructural analysis of liver biopsies is crucial for diagnosing mitochondrial dysfunction in pediatric patients.

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Area of Science:

  • Pediatric Neurology
  • Mitochondrial Diseases
  • Cell Biology

Background:

  • Morphological studies are vital for diagnosing mitochondrial diseases in adults.
  • Their utility in pediatric cases requires specific consideration due to differing manifestations.

Purpose of the Study:

  • To review the role of morphological investigations in diagnosing pediatric mitochondrial diseases.
  • To highlight key morphological findings in various pediatric mitochondrial disorders.
  • To emphasize the importance of ultrastructural analysis, particularly in liver biopsies.

Main Methods:

  • Review of morphological findings in pediatric patients with suspected mitochondrial dysfunction.
  • Analysis of macroscopic, histological, and ultrastructural changes in brain, liver, heart, and intestine.

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  • Correlation of morphological findings with specific mitochondrial diseases like pyruvate dehydrogenase deficiency, Leigh syndrome, Alpers disease, lethal infantile mitochondrial disease, and Barth syndrome.

    • Main Results:

    • Pediatric patients rarely show ragged-red fibers in muscle biopsies, unlike adults.
    • Distinct macroscopic and histological brain abnormalities are observed in conditions like pyruvate dehydrogenase deficiency and Leigh syndrome.
    • Ultrastructural changes in mitochondria are prominent in organs like the liver, heart, and intestine, with specific patterns in Alpers and lethal infantile mitochondrial diseases.
    • Hepatocyte lipid accumulation and mitochondrial alterations are linked to decreased respiratory chain enzyme activity in the liver.

    Conclusions:

    • Detailed morphological studies, including brain autopsy and liver biopsies with ultrastructural assessment, are valuable preliminary investigations for suspected pediatric mitochondrial dysfunction.
    • Findings should be correlated with clinical features to guide further biochemical and molecular studies.
    • Morphological assessment provides essential insights for diagnosing complex pediatric mitochondrial disorders.