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Myopathy with unique ultrastructural feature in Marinesco-Sjögren syndrome
C A Sewry1, T Voit, V Dubowitz
1Jerry Lewis Muscle Research Centre, Royal Postgraduate Medical School, London, UK.
Abstract:
We have investigated 3 children aged 6, 3, and 2 years, from 2 families, with the clinical features of Marinesco-Sjögren syndrome. Muscle biopsy specimens from all 3 were abnormal and showed small vacuoles and slight variation in fiber size. Electron microscopy revealed vacuolation and membranous whorls and, in particular, a unique dense membranous structure associated with nuclei. These cases emphasize the involvement of muscle in Marinesco-Sjögren syndrome and the importance of electron microscopy in differential diagnosis.
Insights
Marinesco-Sjögren syndrome affects muscle tissue, as seen in three children. Electron microscopy revealed unique cellular structures, aiding in diagnosis.
Area of Science:
- Neurology
- Genetics
- Pathology
Background:
- Marinesco-Sjögren syndrome (MSS) is a rare autosomal recessive disorder.
- Clinical features typically include cerebellar ataxia, congenital cataracts, and myopathy.
Purpose of the Study:
- To investigate the muscle pathology in children with clinical features suggestive of Marinesco-Sjögren syndrome.
- To highlight the diagnostic utility of electron microscopy in MSS.
Main Methods:
- Clinical evaluation of three pediatric patients from two families presenting with MSS symptoms.
- Analysis of muscle biopsy specimens using light and electron microscopy.
Main Results:
- Muscle biopsies revealed abnormalities including small vacuoles and variations in fiber size.
- Electron microscopy identified unique dense membranous structures associated with nuclei, alongside vacuolation and membranous whorls.
Conclusions:
- These findings confirm significant muscle involvement in Marinesco-Sjögren syndrome.
- Electron microscopy is crucial for the differential diagnosis of MSS, revealing characteristic ultrastructural changes.