Display Settings:

Format

Send to:

Choose Destination
See comment in PubMed Commons below
Intern Med. 2011;50(2):145-9. Epub 2011 Jan 15.

A case of Marinesco-Sjögren syndrome: MRI observations of skeletal muscles, bone metabolism, and treatment with testosterone and risedronate.

Author information

  • 1Department of Neurology, Kyoto City Hospital, Kyoto, Japan. jfujitake@hosp.city.kyoto.jp

Abstract

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.

PMID:
21245640
[PubMed - indexed for MEDLINE]
Free full text
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Icon for J-STAGE, Japan Science and Technology Information Aggregator, Electronic
    Loading ...
    Write to the Help Desk