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Mitochondrial Myopathy of Cerebro-Hepato-Renal (Zellweger) Syndrome

Published online by Cambridge University Press:  18 September 2015

Harvey B. Sarnat ,
Geoffrey Machin ,
Husam Z. Darwish  and
Steven Z. Rubin
Harvey B. Sarnat*
Affiliation:
Departments of Pathology, Paediatrics, Clinical Neurosciences, and Surgery, University of Calgary Faculty of Medicine, Calgary, Alberta
Geoffrey Machin
Affiliation:
Departments of Pathology, Paediatrics, Clinical Neurosciences, and Surgery, University of Calgary Faculty of Medicine, Calgary, Alberta
Husam Z. Darwish
Affiliation:
Departments of Pathology, Paediatrics, Clinical Neurosciences, and Surgery, University of Calgary Faculty of Medicine, Calgary, Alberta
Steven Z. Rubin
Affiliation:
Departments of Pathology, Paediatrics, Clinical Neurosciences, and Surgery, University of Calgary Faculty of Medicine, Calgary, Alberta
*
Alberta Children’s Hospital, 1820 Richmond Road S.W., Calgary, Alberta, Canada T2T 5C7.
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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.

Type
Original Articles
Information
Canadian Journal of Neurological Sciences , Volume 10 , Issue 3 , August 1983 , pp. 170 - 177
Copyright
Copyright © Canadian Neurological Sciences Federation 1983

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