Mitochondrial Myopathy of Cerebro-Hepato-Renal (Zellweger) Syndrome
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SUMMARY: The muscles of four infants with cerebro-hepato-renal (Zellweger) syndrome were studied during life and/or at necropsy. A mitochondrial myopathy was demonstrated, similar to mitochondrial alterations demonstrated in liver and brain in this disease. Muscle fibers with red-staining subsarcolemmal aggregates were identified with Gomori trichome stain in two cases. Subsarcolemmal and intermyofibrillar zones of increased concentrations of NADH-TR, SDH, and cytochrome-c-oxidase activity were demonstrated histochemically in all four cases. Degenerative and cytoarchitectural changes in muscle fibers were not found. Ultrastructural studies showed large aggregates of mitochondria and increased lipid in the subsarcolemmal and intermyofibrillar spaces. Degenerative changes in mitochondria and lipid also were demonstrated, but paracrystalline inclusions were not seen. The distribution of these changes was not uniform between patients or between different muscles in the same patient. The diaphragm was affected more severely than proximal or distal muscles of the extremities. Direct involvement of muscle mitochondria in this disease may interfere with energy metabolism and contribute to the clinical findings of hypotonia, weakness, and respiratory insufficiency. The muscle biopsy with histochemistry and electron microscopy may be used as a diagnostic adjunct in suspected cases, but the variation encountered dictates caution in the interpretation of negative findings.
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- Authors
- Sarnat, H. B., Machin, G., Darwish, H. Z., & Rubin, S. Z.
- Affiliations
- University of Calgary (CA)
- Corresponding author
- Sarnat, Harvey B.
- ORCID
- Sarnat, Harvey B.
- Venue
- Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques
- Publisher
- Cambridge University Press (CUP)
- Published
- 1983-08
- Volume
- 10
- Issue
- 3
- Pages
- 170-177
- ISSN
- 0317-1671 (ISSN-L)
- 2057-0155
- OpenAlex
- W96601850
- Cited by
- 37
- References
- 26
- Citations by year
- 2025: 1 · 2024: 1 · 2023: 1 · 2022: 3 · 2021: 1 · 2020: 1 · 2019: 1 · 2017: 2 · 2014: 2 · 2012: 1
- FWCI
- 0.67
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Keywords
- Zellweger syndrome, cerebro-hepato-renal syndrome, mitochondrial myopathy, muscle mitochondria, succinate dehydrogenase, cytochrome c oxidase, mitochondrial ultrastructure, muscle lipid accumulation, diaphragm, hypotonia, respiratory failure
- MeSH terms
- Brain Diseases, Child, Preschool, Female, Humans, Infant, Newborn, Kidney Diseases, Liver Diseases, Male, Microscopy, Electron, Mitochondria, Muscle, Muscles, Muscular Diseases, Syndrome
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