A Case of Marinesco-Sjoegren Syndrome: MRI Observations of Skeletal Muscles, Bone Metabolism, and Treatment with Testosterone and Risedronate

• Fujitake Junko

  Department of Neurology, Kyoto City Hospital, Japan

• Komatsu Yasato

  Department of Endocrinology, Kyoto City Hospital, Japan

• Hataya Yuji

  Department of Endocrinology, Kyoto City Hospital, Japan

• Nishikawa Atsuko

  Department of Neurology, Kyoto City Hospital, Japan

• Eriguchi Makoto

  Department of Internal Medicine, Faculty of Medicine, Saga University, Japan

• Mizuta Haruo

  Department of Internal Medicine, Faculty of Medicine, Saga University, Japan

• Hayashi Michiyuki

  Department of Neurology, Kyoto City Hospital, Japan

抄録

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>

収録刊行物

• Internal Medicine

  Internal Medicine 50 (2), 145-149, 2011

  一般社団法人 日本内科学会

キーワード

• Marinesco-Sjögren syndrome
• muscle MRI
• testosterone
• low bone mass
• risedronate
• bisphosphonate

詳細情報

• CRID: 1390282679849953024
• NII論文ID: 130000413214
• DOI: 10.2169/internalmedicine.50.4206
• ISSN: 13497235
• ISSN: 09182918
• Web Site: http://www.jstage.jst.go.jp/article/internalmedicine/50/2/50_2_145/_pdf
• Web Site: https://search.jamas.or.jp/link/ui/2011270924
• 本文言語コード: en
• データソース種別:
  • JaLC
  • Crossref
  • CiNii Articles
• 抄録ライセンスフラグ: 使用不可