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

Junko Fujitake, Yasato Komatsu, Yuji Hataya, Atsuko Nishikawa, Makoto Eriguchi, Haruo Mizuta, Michiyuki Hayashi
2011 Internal medicine (Tokyo. 1992)  
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
more » ... ow bone mass was improved by these treatments, and improvement has continued after risedronate treatment alone. This case suggests that treatment of MSSrelated low bone mass using bisphosphonates is likely beneficial.
doi:10.2169/internalmedicine.50.4206 pmid:21245640 fatcat:6v22tezpqjc7pkznoixy2hg3qi