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A Case of Marinesco-Sjoegren Syndrome: MRI Observations of Skeletal Muscles, Bone Metabolism, and Treatment with Testosterone and Risedronate
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- Fujitake Junko
- Department of Neurology, Kyoto City Hospital, Japan
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- Komatsu Yasato
- Department of Endocrinology, Kyoto City Hospital, Japan
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- Hataya Yuji
- Department of Endocrinology, Kyoto City Hospital, Japan
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- Nishikawa Atsuko
- Department of Neurology, Kyoto City Hospital, Japan
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- Eriguchi Makoto
- Department of Internal Medicine, Faculty of Medicine, Saga University, Japan
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- Mizuta Haruo
- Department of Internal Medicine, Faculty of Medicine, Saga University, Japan
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- Hayashi Michiyuki
- Department of Neurology, Kyoto City Hospital, Japan
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Description
Marinesco-Sjögren syndrome (MSS) is a rare autosomal recessive disorder characterized by cerebellar ataxia, congenital cataracts, mental retardation, primary hypogonadism, skeletal abnormalities and myopathy, and patients with MSS are considered to be at risk of falls and bone fractures. We report a patient with MSS who received testosterone replacement therapy and risedronate administration. Muscle strength and the MRI features of the skeletal muscles were not changed, but low bone mass was improved by these treatments, and improvement has continued after risedronate treatment alone. This case suggests that treatment of MSS-related low bone mass using bisphosphonates is likely beneficial.<br>
Journal
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- Internal Medicine
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Internal Medicine 50 (2), 145-149, 2011
The Japanese Society of Internal Medicine